Variant report

Variant	esv3356010
Chromosome Location	chr3:50191398-50194246
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	chr3:50191885-50192726	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr3:50191974-50192156	GM12878	blood:	n/a	n/a
3	BHLHE40	chr3:50191970-50192120	K562	blood:	n/a	n/a
4	BRCA1	chr3:50192522-50192602	HepG2	liver:	n/a	n/a
5	CCNT2	chr3:50192446-50193005	K562	blood:	n/a	n/a
6	CEBPB	chr3:50192559-50192736	Hela-S3	cervix:	n/a	n/a
7	CEBPD	chr3:50192386-50192681	HepG2	liver:	n/a	n/a
8	CHD1	chr3:50192283-50194228	IMR90	lung:	n/a	n/a
9	CHD2	chr3:50192367-50192705	K562	blood:	n/a	n/a
10	CHD2	chr3:50194225-50194611	Hela-S3	cervix:	n/a	n/a
11	CHD2	chr3:50192273-50192756	Hela-S3	cervix:	n/a	n/a
12	CHD2	chr3:50193270-50193424	Hela-S3	cervix:	n/a	n/a
13	CHD2	chr3:50192348-50192700	HepG2	liver:	n/a	n/a
14	CREB1	chr3:50192309-50193270	HepG2	liver:	n/a	n/a
15	CTBP2	chr3:50192748-50193232	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr3:50191960-50192110	HPAF	blood vessel:	n/a	chr3:50192006-50192027 chr3:50192013-50192026 chr3:50192011-50192029
17	CTCF	chr3:50192000-50192150	GM12874	blood:	n/a	chr3:50192006-50192027 chr3:50192013-50192026 chr3:50192011-50192029
18	CTCF	chr3:50191940-50192090	NB4	blood:	n/a	chr3:50192006-50192027 chr3:50192013-50192026 chr3:50192011-50192029
19	CTCF	chr3:50191660-50191810	HA-sp	spinal cord:	n/a	n/a
20	CTCF	chr3:50191850-50192205	GM12878	blood:	n/a	chr3:50192006-50192027 chr3:50192013-50192026 chr3:50192011-50192029
21	CTCF	chr3:50191900-50192050	HVMF	connective:	n/a	chr3:50192006-50192027 chr3:50192013-50192026 chr3:50192011-50192029
22	CTCF	chr3:50192640-50192790	SK-N-SH_RA	brain:	n/a	chr3:50192716-50192726 chr3:50192714-50192727
23	CTCF	chr3:50191940-50192090	MCF-7	breast:	n/a	chr3:50192006-50192027 chr3:50192013-50192026 chr3:50192011-50192029
24	CTCF	chr3:50191965-50192156	Pancreas_OC	pancreas:	n/a	chr3:50192006-50192027 chr3:50192013-50192026 chr3:50192011-50192029
25	CTCF	chr3:50192620-50192770	GM12868	blood:	n/a	chr3:50192716-50192726 chr3:50192714-50192727
26	CTCF	chr3:50192605-50192777	ProgFib	skin:	n/a	chr3:50192716-50192726 chr3:50192714-50192727
27	CTCF	chr3:50191900-50192050	HBMEC	blood vessel:	n/a	chr3:50192006-50192027 chr3:50192013-50192026 chr3:50192011-50192029
28	CTCF	chr3:50192600-50192750	AG04449	skin:	n/a	chr3:50192716-50192726 chr3:50192714-50192727
29	CTCF	chr3:50191852-50192153	K562	blood:	n/a	chr3:50192006-50192027 chr3:50192013-50192026 chr3:50192011-50192029
30	CTCF	chr3:50191920-50192070	HepG2	liver:	n/a	chr3:50192006-50192027 chr3:50192013-50192026 chr3:50192011-50192029
31	CTCF	chr3:50192663-50192750	GM19240	blood:	n/a	chr3:50192716-50192726 chr3:50192714-50192727
32	CTCF	chr3:50192680-50192830	Caco-2	colon:	n/a	chr3:50192716-50192726 chr3:50192714-50192727
33	CTCF	chr3:50192619-50192758	MCF-7	breast:	n/a	chr3:50192716-50192726 chr3:50192714-50192727
34	CTCF	chr3:50191940-50192140	GM13977	blood:	n/a	chr3:50192006-50192027 chr3:50192013-50192026 chr3:50192011-50192029
35	CTCF	chr3:50192040-50192190	GM12872	blood:	n/a	n/a
36	CTCF	chr3:50191920-50192070	BJ	skin:	n/a	chr3:50192006-50192027 chr3:50192013-50192026 chr3:50192011-50192029
37	CTCF	chr3:50192080-50192230	WI-38	lung:	n/a	n/a
38	CTCF	chr3:50191915-50192090	SK-N-SH_RA	brain:	n/a	chr3:50192006-50192027 chr3:50192013-50192026 chr3:50192011-50192029
39	CTCF	chr3:50192000-50192150	SK-N-SH_RA	brain:	n/a	chr3:50192006-50192027 chr3:50192013-50192026 chr3:50192011-50192029
40	CTCF	chr3:50192604-50192775	MCF-7	breast:	n/a	chr3:50192716-50192726 chr3:50192714-50192727
41	CTCF	chr3:50192620-50192770	HEK293	kidney:	n/a	chr3:50192716-50192726 chr3:50192714-50192727
42	CTCF	chr3:50192080-50192230	NHDF-neo	bronchial:	n/a	n/a
43	CTCF	chr3:50191980-50192130	GM12873	blood:	n/a	chr3:50192006-50192027 chr3:50192013-50192026 chr3:50192011-50192029
44	CTCF	chr3:50192560-50192710	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr3:50191920-50192070	SAEC	small airway:	n/a	chr3:50192006-50192027 chr3:50192013-50192026 chr3:50192011-50192029
46	CTCF	chr3:50191940-50192090	HepG2	liver:	n/a	chr3:50192006-50192027 chr3:50192013-50192026 chr3:50192011-50192029
47	CTCF	chr3:50191920-50192070	GM12865	blood:	n/a	chr3:50192006-50192027 chr3:50192013-50192026 chr3:50192011-50192029
48	CTCF	chr3:50191960-50192110	Caco-2	colon:	n/a	chr3:50192006-50192027 chr3:50192013-50192026 chr3:50192011-50192029
49	CTCF	chr3:50191880-50192030	A549	lung:	n/a	chr3:50192006-50192027 chr3:50192013-50192026 chr3:50192011-50192029
50	CTCF	chr3:50192020-50192170	GM06990	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:50192264-50192314	HL-60	blood:	n/a
2	chr3:50193232-50193282	Hela-S3	cervix:	n/a
3	chr3:50192725-50192775	ProgFib	skin:	n/a
4	chr3:50192264-50192314	HL-60	blood:	n/a
5	chr3:50193232-50193282	Hela-S3	cervix:	n/a
6	chr3:50192725-50192775	ProgFib	skin:	n/a
7	chr3:50192264-50192314	HCF	heart:	n/a
8	chr3:50192052-50192102	GM12892	blood:	n/a
9	chr3:50193049-50193099	MCF10A-Er-Src	breast:	n/a
10	chr3:50192264-50192314	NHDF-neo	bronchial:	n/a
11	chr3:50192052-50192102	SK-N-MC	brain:	n/a
12	chr3:50192260-50192310	GM12891	blood:	n/a
13	chr3:50192725-50192775	GM06990	blood:	n/a
14	chr3:50192260-50192310	AG10803	skin:	n/a
15	chr3:50193049-50193099	BJ	skin:	n/a
16	chr3:50192725-50192775	GM12878	blood:	n/a
17	chr3:50192052-50192102	HepG2	liver:	n/a
18	chr3:50193049-50193099	U87	brain:	n/a
19	chr3:50193049-50193099	Hepatocyte	liver:	n/a
20	chr3:50192260-50192310	BJ	skin:	n/a
21	chr3:50193049-50193099	NT2-D1	testis:	n/a
22	chr3:50192052-50192102	HCT-116	colon:	n/a
23	chr3:50192449-50192499	HPAEpiC	pulmonary alveolar:	n/a
24	chr3:50192052-50192102	LNCaP	prostate:	n/a
25	chr3:50192449-50192499	SK-N-MC	brain:	n/a
26	chr3:50193049-50193099	AG04450	lung:	fetal
27	chr3:50192052-50192102	HL-60	blood:	n/a
28	chr3:50192264-50192314	K562	blood:	n/a
29	chr3:50192264-50192314	AG09309	skin:	n/a
30	chr3:50192052-50192102	GM19239	blood:	n/a
31	chr3:50192264-50192314	IMR90	lung:	fetal
32	chr3:50192725-50192775	HCM	heart:	n/a
33	chr3:50192264-50192314	Hela-S3	cervix:	n/a
34	chr3:50192449-50192499	HL-60	blood:	n/a
35	chr3:50192052-50192102	SK-N-SH_RA	brain:	n/a
36	chr3:50193049-50193099	AG04449	skin:	fetal
37	chr3:50192052-50192102	ovcar-3	ovarian:	n/a
38	chr3:50191944-50191994	H1-hESC	embryonic stem cell:	embryo
39	chr3:50192264-50192314	SKMC	muscle:	n/a
40	chr3:50192264-50192314	HRPEpiC	eye:	n/a
41	chr3:50192725-50192775	HCF	heart:	n/a
42	chr3:50193049-50193099	HUVEC	blood vessel:	n/a
43	chr3:50193232-50193282	HIPEpiC	eye:	n/a
44	chr3:50193232-50193282	IMR90	lung:	fetal
45	chr3:50192260-50192310	NH-A	brain:	n/a
46	chr3:50193232-50193282	HL-60	blood:	n/a
47	chr3:50192725-50192775	H1-hESC	embryonic stem cell:	embryo
48	chr3:50192052-50192102	ProgFib	skin:	n/a
49	chr3:50192725-50192775	HAEpiC	amniotic membrane:	n/a
50	chr3:50192725-50192775	NH-A	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:50159119..50159942-chr3:50191580..50192142,2	MCF-7	breast:
2	chr3:50191641..50194297-chr3:50220054..50223610,4	MCF-7	breast:
3	chr3:50191338..50193199-chr3:50263040..50265048,2	MCF-7	breast:
4	chr3:50159011..50159688-chr3:50191786..50192464,2	MCF-7	breast:
5	chr3:50189363..50191977-chr3:50309007..50311899,2	MCF-7	breast:
6	chr3:50191627..50193691-chr3:50209687..50211278,2	MCF-7	breast:
7	chr3:50193794..50194690-chr3:50221433..50222312,2	MCF-7	breast:
8	chr3:50158688..50160030-chr3:50191274..50192403,3	MCF-7	breast:
9	chr3:50191401..50200098-chr3:50206213..50213809,14	MCF-7	breast:
10	chr3:50192501..50194771-chr3:50274192..50275707,2	MCF-7	breast:
11	chr3:50157890..50164898-chr3:50186493..50191745,15	MCF-7	breast:
12	chr3:50149445..50151714-chr3:50193369..50195764,2	MCF-7	breast:
13	chr3:50192650..50196663-chr3:50219720..50222472,4	MCF-7	breast:
14	chr3:50190470..50194491-chr3:50196225..50201802,7	K562	blood:

Variant related genes	Relation type
ENSG00000235016	TF binding region
SEMA3F	TF binding region
ENSG00000235016	CpG island
SEMA3F	CpG island
ENSG00000012171	chromatin interactions
ENSG00000207922	chromatin interactions
ENSG00000001617	chromatin interactions
ENSG00000114353	chromatin interactions
ENSG00000003756	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183893955	chr3:50191466-50191467	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs34742383	chr3:50191522-50191523	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs527537158	chr3:50191553-50191554	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs548790380	chr3:50191620-50191621	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs142615727	chr3:50191639-50191640	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs376898590	chr3:50191676-50191677	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs367594762	chr3:50191679-50191680	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs535589326	chr3:50191724-50191725	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs371895052	chr3:50191731-50191732	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs569203014	chr3:50191732-50191733	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs75442449	chr3:50191740-50191741	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs557827745	chr3:50191757-50191758	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs573600983	chr3:50191882-50191883	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs534459975	chr3:50191890-50191891	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs554618143	chr3:50191940-50191941	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs150550128	chr3:50191961-50191962	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs111700440	chr3:50192057-50192058	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs115372359	chr3:50192111-50192112	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs370220910	chr3:50192119-50192120	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs544021103	chr3:50192120-50192121	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs562592354	chr3:50192176-50192177	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs577622607	chr3:50192200-50192201	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs564619592	chr3:50192312-50192313	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs544993974	chr3:50192364-50192365	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs559693390	chr3:50192477-50192478	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs527598675	chr3:50192499-50192500	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs548851880	chr3:50192576-50192577	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs560777157	chr3:50192585-50192586	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs2526390	chr3:50192760-50192761	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
30	rs2526389	chr3:50192826-50192827	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs542309586	chr3:50192963-50192964	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs373113746	chr3:50192997-50192998	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs551768374	chr3:50193025-50193026	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs13078542	chr3:50193040-50193041	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs114128376	chr3:50193110-50193111	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs139314222	chr3:50193271-50193272	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs556090154	chr3:50193278-50193279	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs574323389	chr3:50193286-50193287	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs538439708	chr3:50193347-50193348	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs556432768	chr3:50193348-50193349	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs2021734	chr3:50193383-50193384	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs544747181	chr3:50193466-50193467	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs144717485	chr3:50193510-50193511	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs527666268	chr3:50193709-50193710	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs559752131	chr3:50193729-50193730	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs571687897	chr3:50193800-50193801	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs79025934	chr3:50193807-50193808	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs560841397	chr3:50193854-50193855	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs150001931	chr3:50193895-50193896	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs372747322	chr3:50193903-50193904	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Adrenocortical carcinoma	18281524	CNVD
Cancer	20164919	CNVD
Autism	20531469	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50177200-50191800	Weak transcription	Right Ventricle	heart
2	chr3:50183600-50192000	Enhancers	Esophagus	oesophagus
3	chr3:50186200-50191600	Weak transcription	Fetal Brain Female	brain
4	chr3:50187600-50191800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr3:50187600-50192000	Enhancers	HMEC	breast
6	chr3:50187600-50192400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:50188800-50191800	Enhancers	Spleen	Spleen
8	chr3:50189200-50191400	Weak transcription	Fetal Brain Male	brain
9	chr3:50189200-50191600	Weak transcription	Colonic Mucosa	Colon
10	chr3:50189200-50191800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:50189200-50191800	Weak transcription	Liver	Liver
12	chr3:50189400-50191800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr3:50189400-50191800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr3:50189600-50191800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:50189600-50191800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:50189600-50193000	Weak transcription	Fetal Lung	lung
17	chr3:50189800-50191600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr3:50190000-50193000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr3:50190600-50191600	Bivalent Enhancer	HepG2	liver
20	chr3:50190800-50192000	Enhancers	Fetal Kidney	kidney
21	chr3:50191000-50191400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:50191000-50191800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:50191000-50192000	Enhancers	Gastric	stomach
24	chr3:50191000-50192000	Enhancers	Lung	lung
25	chr3:50191200-50191400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr3:50191200-50191800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr3:50191200-50191800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:50191200-50192400	Weak transcription	NHEK	skin
29	chr3:50191400-50191600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
30	chr3:50191400-50191600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:50191400-50191800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
32	chr3:50191400-50191800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:50191400-50191800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:50191400-50191800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr3:50191400-50191800	Enhancers	Hela-S3	cervix
36	chr3:50191400-50191800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
37	chr3:50191400-50192000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:50191400-50192000	Enhancers	Fetal Brain Male	brain
39	chr3:50191400-50192000	Enhancers	Fetal Heart	heart
40	chr3:50191400-50192000	Bivalent Enhancer	Fetal Stomach	stomach
41	chr3:50191600-50191800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
42	chr3:50191600-50191800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
43	chr3:50191600-50191800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr3:50191600-50191800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr3:50191600-50191800	Bivalent Enhancer	Primary B cells from cord blood	blood
46	chr3:50191600-50191800	Enhancers	Primary hematopoietic stem cells	blood
47	chr3:50191600-50191800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
48	chr3:50191600-50191800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr3:50191600-50191800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr3:50191600-50191800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood

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