Variant report

Variant	esv3422029
Chromosome Location	chr1:210404854-210407702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:210405970-210407150	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr1:210407497-210407821	H1-hESC	embryonic stem cell:	n/a	n/a
3	CCNT2	chr1:210406103-210406312	K562	blood:	n/a	n/a
4	CHD2	chr1:210406917-210407692	Hela-S3	cervix:	n/a	n/a
5	CTBP2	chr1:210405979-210407958	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr1:210407440-210407590	HUVEC	blood vessel:	n/a	n/a
7	CTCF	chr1:210406097-210406110	Gliobla	brain:	n/a	n/a
8	CTCF	chr1:210406020-210406170	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr1:210405940-210406090	HRE	kidney:	n/a	n/a
10	CTCF	chr1:210405980-210406130	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr1:210406070-210406180	NHEK	skin:	n/a	n/a
12	CTCF	chr1:210405940-210406090	BJ	skin:	n/a	n/a
13	CTCF	chr1:210405960-210406110	HRE	kidney:	n/a	n/a
14	CTCF	chr1:210406600-210406750	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr1:210406020-210406170	WERI-Rb-1	eye:	n/a	n/a
16	CTCF	chr1:210406480-210406630	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr1:210406040-210406190	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr1:210406020-210406170	SAEC	small airway:	n/a	n/a
19	CTCF	chr1:210406000-210406150	HEEpiC	esophagus:	n/a	n/a
20	CTCF	chr1:210406120-210406270	NHEK	skin:	n/a	n/a
21	CTCF	chr1:210405960-210406110	AG09319	gingival:	n/a	n/a
22	CTCF	chr1:210406020-210406170	AG10803	skin:	n/a	n/a
23	CTCF	chr1:210405960-210406110	HepG2	liver:	n/a	n/a
24	CTCF	chr1:210406076-210406191	MCF-7	breast:	n/a	n/a
25	CTCF	chr1:210406113-210406120	Gliobla	brain:	n/a	n/a
26	E2F4	chr1:210405287-210405540	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F4	chr1:210407080-210407484	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F4	chr1:210406462-210406781	MCF10A-Er-Src	breast:	n/a	chr1:210406562-210406577 chr1:210406620-210406632 chr1:210406572-210406581
29	E2F6	chr1:210406511-210406641	K562	blood:	n/a	chr1:210406562-210406577 chr1:210406620-210406632 chr1:210406572-210406581
30	E2F6	chr1:210406420-210407363	A549	lung:	n/a	chr1:210406562-210406577 chr1:210406950-210406960 chr1:210406620-210406632 chr1:210406572-210406581
31	EGR1	chr1:210407454-210407749	K562	blood:	n/a	chr1:210407621-210407636 chr1:210407621-210407635 chr1:210407623-210407633 chr1:210407623-210407632 chr1:210407622-210407635 chr1:210407623-210407634 chr1:210407622-210407635 chr1:210407622-210407635 chr1:210407622-210407635 chr1:210407617-210407639
32	EGR1	chr1:210407425-210407763	H1-hESC	embryonic stem cell:	n/a	chr1:210407621-210407636 chr1:210407621-210407635 chr1:210407623-210407633 chr1:210407623-210407632 chr1:210407622-210407635 chr1:210407623-210407634 chr1:210407622-210407635 chr1:210407622-210407635 chr1:210407622-210407635 chr1:210407617-210407639
33	EGR1	chr1:210406590-210407390	HCT-116	colon:	n/a	chr1:210406906-210406919 chr1:210406948-210406962 chr1:210406906-210406919 chr1:210406900-210406913 chr1:210406906-210406919 chr1:210406906-210406919 chr1:210406907-210406918 chr1:210406901-210406923 chr1:210406907-210406917 chr1:210406905-210406920 chr1:210406631-210406641 chr1:210406907-210406917 chr1:210406903-210406917 chr1:210406905-210406919 chr1:210406895-210406905 chr1:210406907-210406916 chr1:210406906-210406916
34	EGR1	chr1:210407446-210407742	K562	blood:	n/a	chr1:210407621-210407636 chr1:210407621-210407635 chr1:210407623-210407633 chr1:210407623-210407632 chr1:210407622-210407635 chr1:210407623-210407634 chr1:210407622-210407635 chr1:210407622-210407635 chr1:210407622-210407635 chr1:210407617-210407639
35	EGR1	chr1:210406716-210407190	ECC-1	luminal epithelium:	n/a	chr1:210406906-210406919 chr1:210406948-210406962 chr1:210406906-210406919 chr1:210406900-210406913 chr1:210406906-210406919 chr1:210406906-210406919 chr1:210406907-210406918 chr1:210406901-210406923 chr1:210406907-210406917 chr1:210406905-210406920 chr1:210406907-210406917 chr1:210406903-210406917 chr1:210406905-210406919 chr1:210406895-210406905 chr1:210406907-210406916 chr1:210406906-210406916
36	EGR1	chr1:210406756-210407144	H1-hESC	embryonic stem cell:	n/a	chr1:210406906-210406919 chr1:210406948-210406962 chr1:210406906-210406919 chr1:210406900-210406913 chr1:210406906-210406919 chr1:210406906-210406919 chr1:210406907-210406918 chr1:210406901-210406923 chr1:210406907-210406917 chr1:210406905-210406920 chr1:210406907-210406917 chr1:210406903-210406917 chr1:210406905-210406919 chr1:210406895-210406905 chr1:210406907-210406916 chr1:210406906-210406916
37	EGR1	chr1:210406202-210407163	K562	blood:	n/a	chr1:210406906-210406919 chr1:210406948-210406962 chr1:210406906-210406919 chr1:210406569-210406579 chr1:210406332-210406342 chr1:210406900-210406913 chr1:210406906-210406919 chr1:210406906-210406919 chr1:210406907-210406918 chr1:210406901-210406923 chr1:210406907-210406917 chr1:210406905-210406920 chr1:210406631-210406641 chr1:210406907-210406917 chr1:210406903-210406917 chr1:210406905-210406919 chr1:210406895-210406905 chr1:210406907-210406916 chr1:210406906-210406916 chr1:210406564-210406577
38	EGR1	chr1:210406849-210406983	GM12878	blood:	n/a	chr1:210406906-210406919 chr1:210406948-210406962 chr1:210406906-210406919 chr1:210406900-210406913 chr1:210406906-210406919 chr1:210406906-210406919 chr1:210406907-210406918 chr1:210406901-210406923 chr1:210406907-210406917 chr1:210406905-210406920 chr1:210406907-210406917 chr1:210406903-210406917 chr1:210406905-210406919 chr1:210406895-210406905 chr1:210406907-210406916 chr1:210406906-210406916
39	EGR1	chr1:210406704-210407108	K562	blood:	n/a	chr1:210406906-210406919 chr1:210406948-210406962 chr1:210406906-210406919 chr1:210406900-210406913 chr1:210406906-210406919 chr1:210406906-210406919 chr1:210406907-210406918 chr1:210406901-210406923 chr1:210406907-210406917 chr1:210406905-210406920 chr1:210406907-210406917 chr1:210406903-210406917 chr1:210406905-210406919 chr1:210406895-210406905 chr1:210406907-210406916 chr1:210406906-210406916
40	EGR1	chr1:210407394-210407827	HCT-116	colon:	n/a	chr1:210407621-210407636 chr1:210407621-210407635 chr1:210407623-210407633 chr1:210407623-210407632 chr1:210407622-210407635 chr1:210407623-210407634 chr1:210407622-210407635 chr1:210407622-210407635 chr1:210407622-210407635 chr1:210407617-210407639
41	EGR1	chr1:210406289-210406613	ECC-1	luminal epithelium:	n/a	chr1:210406569-210406579 chr1:210406332-210406342 chr1:210406564-210406577
42	EGR1	chr1:210406711-210407133	MCF-7	breast:	n/a	chr1:210406906-210406919 chr1:210406948-210406962 chr1:210406906-210406919 chr1:210406900-210406913 chr1:210406906-210406919 chr1:210406906-210406919 chr1:210406907-210406918 chr1:210406901-210406923 chr1:210406907-210406917 chr1:210406905-210406920 chr1:210406907-210406917 chr1:210406903-210406917 chr1:210406905-210406919 chr1:210406895-210406905 chr1:210406907-210406916 chr1:210406906-210406916
43	EGR1	chr1:210406729-210407062	H1-hESC	embryonic stem cell:	n/a	chr1:210406906-210406919 chr1:210406948-210406962 chr1:210406906-210406919 chr1:210406900-210406913 chr1:210406906-210406919 chr1:210406906-210406919 chr1:210406907-210406918 chr1:210406901-210406923 chr1:210406907-210406917 chr1:210406905-210406920 chr1:210406907-210406917 chr1:210406903-210406917 chr1:210406905-210406919 chr1:210406895-210406905 chr1:210406907-210406916 chr1:210406906-210406916
44	EGR1	chr1:210406838-210407002	GM12878	blood:	n/a	chr1:210406906-210406919 chr1:210406948-210406962 chr1:210406906-210406919 chr1:210406900-210406913 chr1:210406906-210406919 chr1:210406906-210406919 chr1:210406907-210406918 chr1:210406901-210406923 chr1:210406907-210406917 chr1:210406905-210406920 chr1:210406907-210406917 chr1:210406903-210406917 chr1:210406905-210406919 chr1:210406895-210406905 chr1:210406907-210406916 chr1:210406906-210406916
45	EGR1	chr1:210406687-210407160	ECC-1	luminal epithelium:	n/a	chr1:210406906-210406919 chr1:210406948-210406962 chr1:210406906-210406919 chr1:210406900-210406913 chr1:210406906-210406919 chr1:210406906-210406919 chr1:210406907-210406918 chr1:210406901-210406923 chr1:210406907-210406917 chr1:210406905-210406920 chr1:210406907-210406917 chr1:210406903-210406917 chr1:210406905-210406919 chr1:210406895-210406905 chr1:210406907-210406916 chr1:210406906-210406916
46	EGR1	chr1:210406525-210407936	HCT-116	colon:	n/a	chr1:210406906-210406919 chr1:210406948-210406962 chr1:210406906-210406919 chr1:210406569-210406579 chr1:210407621-210407636 chr1:210407621-210407635 chr1:210406900-210406913 chr1:210406906-210406919 chr1:210406906-210406919 chr1:210406907-210406918 chr1:210406901-210406923 chr1:210407623-210407633 chr1:210406907-210406917 chr1:210406905-210406920 chr1:210406631-210406641 chr1:210406907-210406917 chr1:210406903-210406917 chr1:210407623-210407632 chr1:210406905-210406919 chr1:210406895-210406905 chr1:210407622-210407635 chr1:210406907-210406916 chr1:210407623-210407634 chr1:210407622-210407635 chr1:210407622-210407635 chr1:210406906-210406916 chr1:210407622-210407635 chr1:210407617-210407639 chr1:210406564-210406577
47	ELK1	chr1:210407225-210407226	Hela-S3	cervix:	n/a	n/a
48	EP300	chr1:210405899-210406319	T-47D	breast:	n/a	chr1:210405976-210405985 chr1:210405975-210405991 chr1:210405979-210405988
49	EP300	chr1:210405319-210406323	SK-N-SH	brain:	n/a	chr1:210405510-210405524 chr1:210405976-210405985 chr1:210405975-210405991 chr1:210405979-210405988 chr1:210405511-210405525 chr1:210405561-210405570
50	EP300	chr1:210405323-210405817	SK-N-SH_RA	brain:	n/a	chr1:210405510-210405524 chr1:210405511-210405525 chr1:210405561-210405570

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:210406850-210406900	Hepatocyte	liver:	n/a
2	chr1:210405816-210405866	HPAEpiC	pulmonary alveolar:	n/a
3	chr1:210406738-210406788	ECC-1	luminal epithelium:	n/a
4	chr1:210406850-210406900	Hepatocyte	liver:	n/a
5	chr1:210405816-210405866	HPAEpiC	pulmonary alveolar:	n/a
6	chr1:210406738-210406788	ECC-1	luminal epithelium:	n/a
7	chr1:210405566-210405616	GM12878	blood:	n/a
8	chr1:210407484-210407534	AG09319	gingival:	n/a
9	chr1:210407480-210407530	HEEpiC	esophagus:	n/a
10	chr1:210407677-210407727	T-47D	breast:	n/a
11	chr1:210405212-210405262	MCF10A-Er-Src	breast:	n/a
12	chr1:210407484-210407534	H1-hESC	embryonic stem cell:	embryo
13	chr1:210407588-210407638	SK-N-SH	brain:	n/a
14	chr1:210407677-210407727	GM12891	blood:	n/a
15	chr1:210407556-210407606	NH-A	brain:	n/a
16	chr1:210407588-210407638	HAEpiC	amniotic membrane:	n/a
17	chr1:210407473-210407523	AG04450	lung:	fetal
18	chr1:210407677-210407727	HepG2	liver:	n/a
19	chr1:210407480-210407530	PFSK-1	brain:	n/a
20	chr1:210405212-210405262	MCF-7	breast:	n/a
21	chr1:210405212-210405262	HRE	kidney:	n/a
22	chr1:210406850-210406900	PrEC	prostate:	n/a
23	chr1:210405808-210405858	HRCEpiC	kidney:	n/a
24	chr1:210406599-210406649	HL-60	blood:	n/a
25	chr1:210407556-210407606	HCM	heart:	n/a
26	chr1:210407480-210407530	GM19239	blood:	n/a
27	chr1:210407556-210407606	PFSK-1	brain:	n/a
28	chr1:210405816-210405866	LNCaP	prostate:	n/a
29	chr1:210407480-210407530	BJ	skin:	n/a
30	chr1:210405566-210405616	Caco-2	colon:	n/a
31	chr1:210406599-210406649	GM19239	blood:	n/a
32	chr1:210405566-210405616	HEEpiC	esophagus:	n/a
33	chr1:210405808-210405858	HCF	heart:	n/a
34	chr1:210406599-210406649	H1-hESC	embryonic stem cell:	embryo
35	chr1:210407677-210407727	U87	brain:	n/a
36	chr1:210405808-210405858	H1-hESC	embryonic stem cell:	embryo
37	chr1:210406599-210406649	NHBE	bronchial:	n/a
38	chr1:210405808-210405858	AG09319	gingival:	n/a
39	chr1:210407473-210407523	MCF-7	breast:	n/a
40	chr1:210406599-210406649	HepG2	liver:	n/a
41	chr1:210406599-210406649	BE2_C	brain:	n/a
42	chr1:210407484-210407534	HAEpiC	amniotic membrane:	n/a
43	chr1:210405816-210405866	NT2-D1	testis:	n/a
44	chr1:210407556-210407606	HCF	heart:	n/a
45	chr1:210406599-210406649	HEK293	kidney:	embryo
46	chr1:210407473-210407523	Jurkat	blood:	n/a
47	chr1:210407588-210407638	HCPEpiC	choroid plexus:	n/a
48	chr1:210405808-210405858	K562	blood:	n/a
49	chr1:210407484-210407534	Hela-S3	cervix:	n/a
50	chr1:210405212-210405262	HCF	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:210404317..210408653-chr1:210545033..210548956,7	MCF-7	breast:
2	chr1:210398376..210400495-chr1:210402941..210405832,2	K562	blood:
3	chr1:210406407..210409749-chr1:210545963..210547821,3	MCF-7	breast:
4	chr1:210405867..210408909-chr1:210535692..210538632,3	MCF-7	breast:
5	chr1:210405800..210407964-chr1:210502205..210503882,2	MCF-7	breast:
6	chr1:210404553..210406882-chr6:30538400..30541136,2	MCF-7	breast:
7	chr1:210402586..210405079-chr1:210405490..210408376,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf133-2	chr1:210406980-210407466	NONHSAT009251
2	lnc-C1orf133-2	chr1:210404801-210405116	ENSG00000203706.4
3	lnc-C1orf133-2	chr1:210406980-210407389	ENSG00000203706.4
4	lnc-C1orf133-2	chr1:210407296-210407392	ENSG00000203706.4
5	lnc-C1orf133-2	chr1:210404804-210405116	NONHSAT009251
6	lnc-C1orf133-2	chr1:210404801-210405116	ENSG00000203706.4

Variant related genes	Relation type
SERTAD4-AS1	TF binding region
SERTAD4	TF binding region
SERTAD4-AS1	CpG island
SERTAD4	CpG island
ENSG00000082497	chromatin interactions
ENSG00000203706	chromatin interactions
ENSG00000204574	chromatin interactions
ENSG00000054392	chromatin interactions
ENSG00000200972	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543646340	chr1:210404885-210404886	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
2	rs370072947	chr1:210404993-210404994	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
3	rs562136803	chr1:210405015-210405016	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
4	rs529441085	chr1:210405023-210405024	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
5	rs530228579	chr1:210405025-210405026	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
6	rs143810602	chr1:210405055-210405056	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs559961233	chr1:210405154-210405155	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs533385400	chr1:210405189-210405190	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs551779640	chr1:210405221-210405222	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs543537357	chr1:210405224-210405225	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs148091090	chr1:210405230-210405231	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs537533986	chr1:210405308-210405309	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs549996349	chr1:210405334-210405335	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs114890655	chr1:210405405-210405406	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs535598854	chr1:210405429-210405430	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs563732481	chr1:210405485-210405486	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs532352012	chr1:210405509-210405510	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs59511037	chr1:210405510-210405511	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs77183001	chr1:210405525-210405526	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs572281393	chr1:210405531-210405532	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs539078521	chr1:210405547-210405548	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs190326839	chr1:210405552-210405553	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs575775959	chr1:210405557-210405558	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs71850094	chr1:210405583-210405584	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs200792060	chr1:210405585-210405586	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs182009367	chr1:210405627-210405628	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs561781692	chr1:210405635-210405636	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs574167001	chr1:210405637-210405638	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs541584764	chr1:210405653-210405654	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs201177394	chr1:210405674-210405675	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs115784688	chr1:210405744-210405745	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs533652273	chr1:210405812-210405813	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs2473814	chr1:210405907-210405908	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs1766563	chr1:210405989-210405990	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs1738034	chr1:210405990-210405991	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs549222547	chr1:210406003-210406004	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs567716548	chr1:210406012-210406013	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs529101143	chr1:210406042-210406043	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs547552727	chr1:210406063-210406064	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs2273047	chr1:210406106-210406107	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs375648872	chr1:210406193-210406194	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs539342126	chr1:210406202-210406203	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs549750813	chr1:210406244-210406245	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs2273048	chr1:210406245-210406246	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs370553152	chr1:210406263-210406264	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs537015191	chr1:210406387-210406388	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs555190869	chr1:210406404-210406405	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs186507330	chr1:210406414-210406415	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs528937421	chr1:210406456-210406457	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs541299048	chr1:210406534-210406535	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210397200-210405000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:210400200-210405000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:210403800-210405200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:210403800-210405600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:210403800-210405600	Enhancers	NHEK	skin
6	chr1:210404200-210405000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:210404200-210405200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:210404400-210405200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
9	chr1:210404400-210405200	Enhancers	Colon Smooth Muscle	Colon
10	chr1:210404400-210405200	Enhancers	Rectal Smooth Muscle	rectum
11	chr1:210404400-210405600	Bivalent Enhancer	Fetal Heart	heart
12	chr1:210405000-210405200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr1:210405000-210405200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
14	chr1:210405000-210405200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr1:210405000-210405200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:210405000-210405200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:210405000-210405200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr1:210405000-210405400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:210405000-210405400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
20	chr1:210405000-210405400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:210405000-210405400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr1:210405000-210405400	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr1:210405000-210405400	Enhancers	Left Ventricle	heart
24	chr1:210405000-210405400	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr1:210405000-210405400	Bivalent Enhancer	NHDF-Ad	bronchial
26	chr1:210405000-210405600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:210405000-210405600	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr1:210405000-210405600	Bivalent Enhancer	Thymus	Thymus
29	chr1:210405000-210407400	Active TSS	Stomach Smooth Muscle	stomach
30	chr1:210405000-210407600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
31	chr1:210405200-210405400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:210405200-210405400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
33	chr1:210405200-210405400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
34	chr1:210405200-210405400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
35	chr1:210405200-210405400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
36	chr1:210405200-210405400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr1:210405200-210405400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr1:210405200-210405400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:210405200-210405400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:210405200-210405400	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr1:210405200-210405400	Bivalent Enhancer	Fetal Kidney	kidney
42	chr1:210405200-210405400	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr1:210405200-210405600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:210405200-210405600	Enhancers	Brain Cingulate Gyrus	brain
45	chr1:210405200-210405600	Enhancers	Duodenum Mucosa	Duodenum
46	chr1:210405200-210405600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr1:210405200-210405800	Enhancers	Placenta	Placenta
48	chr1:210405200-210405800	Flanking Active TSS	HUVEC	blood vessel
49	chr1:210405200-210406400	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr1:210405200-210406600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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