Variant report

Variant	esv3393757
Chromosome Location	chr1:209943129-209946427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:234)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:234 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:209945569-209945736	K562	blood:	n/a	n/a
2	ATF2	chr1:209942654-209943198	GM12878	blood:	n/a	n/a
3	ATF2	chr1:209942490-209943373	GM12878	blood:	n/a	n/a
4	BATF	chr1:209942577-209943140	GM12878	blood:	n/a	n/a
5	BCL3	chr1:209942652-209943193	GM12878	blood:	n/a	chr1:209942978-209942987
6	BCLAF1	chr1:209942673-209943490	GM12878	blood:	n/a	chr1:209942978-209942987 chr1:209943261-209943270
7	BCLAF1	chr1:209942510-209943362	GM12878	blood:	n/a	chr1:209942978-209942987 chr1:209943261-209943270
8	BHLHE40	chr1:209942632-209943201	GM12878	blood:	n/a	n/a
9	BRCA1	chr1:209942989-209943144	GM12878	blood:	n/a	n/a
10	CEBPB	chr1:209942512-209943465	GM12878	blood:	n/a	n/a
11	CHD1	chr1:209941419-209943686	GM12878	blood:	n/a	n/a
12	CHD2	chr1:209941614-209943541	GM12878	blood:	n/a	n/a
13	CHD2	chr1:209943935-209943986	GM12878	blood:	n/a	n/a
14	CTCF	chr1:209943500-209943650	HUVEC	blood vessel:	n/a	n/a
15	CTCF	chr1:209943460-209943610	NHLF	lung:	n/a	n/a
16	CTCF	chr1:209943716-209943833	GM12892	blood:	n/a	n/a
17	CTCF	chr1:209943460-209943610	HVMF	connective:	n/a	n/a
18	CTCF	chr1:209945272-209945317	GM12891	blood:	n/a	n/a
19	CTCF	chr1:209944823-209944856	NHEK	skin:	n/a	n/a
20	CTCF	chr1:209944061-209944094	NHEK	skin:	n/a	n/a
21	CTCF	chr1:209943500-209943650	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr1:209945179-209945244	MCF-7	breast:	n/a	n/a
23	CTCF	chr1:209943655-209945439	GM19239	blood:	n/a	n/a
24	CTCF	chr1:209945138-209945254	GM12891	blood:	n/a	n/a
25	CTCF	chr1:209943500-209943650	GM12874	blood:	n/a	n/a
26	CTCF	chr1:209943561-209943642	GM12878	blood:	n/a	n/a
27	CTCF	chr1:209943440-209943590	GM06990	blood:	n/a	n/a
28	CTCF	chr1:209943520-209943670	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr1:209943440-209943590	HPAF	blood vessel:	n/a	n/a
30	CTCF	chr1:209943523-209943586	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr1:209945214-209945314	GM10266	blood:	n/a	n/a
32	CTCF	chr1:209943440-209943590	AoAF	blood vessel:	n/a	n/a
33	CTCF	chr1:209945318-209945338	NHEK	skin:	n/a	n/a
34	CTCF	chr1:209943480-209943630	HCFaa	heart:	n/a	n/a
35	CTCF	chr1:209943394-209943733	GM12878	blood:	n/a	n/a
36	CTCF	chr1:209943660-209943810	GM12872	blood:	n/a	n/a
37	CTCF	chr1:209945261-209945329	MCF-7	breast:	n/a	n/a
38	CTCF	chr1:209943480-209943630	HBMEC	blood vessel:	n/a	n/a
39	CTCF	chr1:209943440-209943590	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr1:209943680-209943830	GM12872	blood:	n/a	n/a
41	CTCF	chr1:209944008-209944078	GM12892	blood:	n/a	n/a
42	CTCF	chr1:209943420-209943570	HA-sp	spinal cord:	n/a	n/a
43	CTCF	chr1:209943400-209943550	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr1:209943418-209943577	K562	blood:	n/a	n/a
45	CTCF	chr1:209943482-209943651	Spleen_OC	spleen:	n/a	n/a
46	CUX1	chr1:209941742-209943193	GM12878	blood:	n/a	n/a
47	EBF1	chr1:209943393-209943474	GM12878	blood:	n/a	n/a
48	EBF1	chr1:209942742-209943136	GM12878	blood:	n/a	n/a
49	ELF1	chr1:209942759-209943218	GM12878	blood:	n/a	chr1:209943066-209943077 chr1:209943066-209943077
50	ELF1	chr1:209942521-209943318	SK-N-SH	brain:	n/a	chr1:209943066-209943077 chr1:209943066-209943077

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:209943131-209943181	BJ	skin:	n/a
2	chr1:209943131-209943181	Jurkat	blood:	n/a
3	chr1:209943131-209943181	NH-A	brain:	n/a
4	chr1:209943131-209943181	PANC-1	pancreas:	n/a
5	chr1:209943131-209943181	RPTEC	kidney:	n/a
6	chr1:209943131-209943181	SK-N-SH	brain:	n/a
7	chr1:209943131-209943181	AG09319	gingival:	n/a
8	chr1:209943131-209943181	HRE	kidney:	n/a
9	chr1:209943131-209943181	HL-60	blood:	n/a
10	chr1:209943131-209943181	ProgFib	skin:	n/a
11	chr1:209943131-209943181	MCF10A-Er-Src	breast:	n/a
12	chr1:209943131-209943181	K562	blood:	n/a
13	chr1:209943131-209943181	HRPEpiC	eye:	n/a
14	chr1:209943131-209943181	GM12892	blood:	n/a
15	chr1:209943131-209943181	HEK293	kidney:	embryo
16	chr1:209943131-209943181	HRCEpiC	kidney:	n/a
17	chr1:209943131-209943181	ovcar-3	ovarian:	n/a
18	chr1:209943131-209943181	BE2_C	brain:	n/a
19	chr1:209943131-209943181	HCT-116	colon:	n/a
20	chr1:209943131-209943181	HMEC	breast:	n/a
21	chr1:209943131-209943181	AG04450	lung:	fetal
22	chr1:209943131-209943181	HUVEC	blood vessel:	n/a
23	chr1:209943131-209943181	HEEpiC	esophagus:	n/a
24	chr1:209943131-209943181	PFSK-1	brain:	n/a
25	chr1:209943131-209943181	SK-N-MC	brain:	n/a
26	chr1:209943131-209943181	AG09309	skin:	n/a
27	chr1:209943131-209943181	AoSMC	blood vessel:	n/a
28	chr1:209943131-209943181	NB4	blood:	n/a
29	chr1:209943131-209943181	HCF	heart:	n/a
30	chr1:209943131-209943181	GM12891	blood:	n/a
31	chr1:209943131-209943181	H1-hESC	embryonic stem cell:	embryo
32	chr1:209943131-209943181	HepG2	liver:	n/a
33	chr1:209943131-209943181	GM12878	blood:	n/a
34	chr1:209943131-209943181	MCF-7	breast:	n/a
35	chr1:209943131-209943181	CMK	blood:	n/a
36	chr1:209943131-209943181	AG04449	skin:	fetal
37	chr1:209943131-209943181	AG10803	skin:	n/a
38	chr1:209943131-209943181	HPAEpiC	pulmonary alveolar:	n/a
39	chr1:209943131-209943181	HIPEpiC	eye:	n/a
40	chr1:209943131-209943181	SKMC	muscle:	n/a
41	chr1:209943131-209943181	HCPEpiC	choroid plexus:	n/a
42	chr1:209943131-209943181	HNPCEpiC	eye:	n/a
43	chr1:209943131-209943181	LNCaP	prostate:	n/a
44	chr1:209943131-209943181	T-47D	breast:	n/a
45	chr1:209943131-209943181	HCM	heart:	n/a
46	chr1:209943131-209943181	IMR90	lung:	fetal
47	chr1:209943131-209943181	NHBE	bronchial:	n/a
48	chr1:209943131-209943181	GM19239	blood:	n/a
49	chr1:209943131-209943181	HAEpiC	amniotic membrane:	n/a
50	chr1:209943131-209943181	NT2-D1	testis:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:209943015..209945017-chr1:209946674..209949825,3	K562	blood:
2	chr1:209944533..209945329-chr11:75062797..75063297,2	NB4	blood:
3	chr1:209931478..209933302-chr1:209941660..209944063,2	K562	blood:
4	chr1:209945724..209947520-chr1:209953789..209956019,2	K562	blood:
5	chr1:209940844..209943415-chr1:209955888..209958090,3	K562	blood:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSD11B1-4	chr1:209944201-209944669	NONHSAT009242
2	lnc-HSD11B1-4	chr1:209945420-209945499	NONHSAT009236
3	lnc-HSD11B1-4	chr1:209944421-209944469	NONHSAT009235
4	lnc-HSD11B1-4	chr1:209944860-209945499	NONHSAT009242
5	lnc-HSD11B1-4	chr1:209944790-209945471	NONHSAT009237
6	lnc-HSD11B1-4	chr1:209944409-209944784	NONHSAT009241
7	lnc-HSD11B1-4	chr1:209944227-209944789	NONHSAT009236
8	lnc-C1orf74-2	chr1:209944455-209945468	NONHSAT009239
9	lnc-HSD11B1-4	chr1:209943622-209943813	NONHSAT009237
10	lnc-HSD11B1-4	chr1:209944247-209945468	NONHSAT009238
11	lnc-C1orf74-2	chr1:209943688-209943821	NONHSAT009239
12	lnc-HSD11B1-4	chr1:209943810-209943875	NONHSAT009241
13	lnc-HSD11B1-4	chr1:209944247-209945468	NONHSAT009240
14	lnc-HSD11B1-4	chr1:209943562-209944045	NONHSAT009236
15	lnc-HSD11B1-4	chr1:209943729-209943753	NONHSAT009240
16	lnc-HSD11B1-4	chr1:209943688-209943793	NONHSAT009238
17	lnc-HSD11B1-4	chr1:209943366-209944059	NONHSAT009235

No data

Variant related genes	Relation type
TRAF3IP3	TF binding region
TRAF3IP3	CpG island
ENSG00000009790	chromatin interactions
ENSG00000137486	chromatin interactions
ENSG00000162757	chromatin interactions
UBE2I	miRNA target sites
FLT1	miRNA target sites

Extended variants
information (count: 208 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:208 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189961698	chr1:209943132-209943133	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs11119343	chr1:209943156-209943157	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs546179280	chr1:209943254-209943255	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs564755169	chr1:209943323-209943324	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs564780280	chr1:209943340-209943341	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs114840476	chr1:209943414-209943415	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs61217979	chr1:209943440-209943441	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs537510029	chr1:209943441-209943442	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs11119344	chr1:209943489-209943490	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs564962720	chr1:209943542-209943543	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs78887858	chr1:209943557-209943558	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs398074601	chr1:209943560-209943561	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs541370742	chr1:209943581-209943582	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs182194239	chr1:209943591-209943592	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs4990735	chr1:209943592-209943593	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs552093563	chr1:209943665-209943666	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs368221048	chr1:209943669-209943670	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs374455160	chr1:209943696-209943697	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs74447762	chr1:209943716-209943717	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs139694818	chr1:209943719-209943720	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs549346831	chr1:209943736-209943737	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs567753861	chr1:209943747-209943748	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs535170831	chr1:209943749-209943750	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs553501147	chr1:209943776-209943777	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs4997276	chr1:209943787-209943788	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs142471182	chr1:209943788-209943789	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs4997275	chr1:209943796-209943797	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs4997274	chr1:209943813-209943814	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs34097069	chr1:209943814-209943815	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs35186642	chr1:209943815-209943816	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs374247512	chr1:209943822-209943823	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs397861900	chr1:209943823-209943824	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs558085618	chr1:209943837-209943838	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs186984604	chr1:209943839-209943840	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs544161667	chr1:209943840-209943841	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs553988112	chr1:209943854-209943855	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs375979350	chr1:209943870-209943871	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs189492691	chr1:209943880-209943881	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs574129819	chr1:209943886-209943887	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs139818084	chr1:209943894-209943895	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs541440496	chr1:209943908-209943909	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs141586375	chr1:209943922-209943923	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs533279868	chr1:209943948-209943949	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs34404623	chr1:209943951-209943952	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs143180205	chr1:209943952-209943953	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs371646505	chr1:209943988-209943989	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs562221009	chr1:209944006-209944007	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs111163604	chr1:209944018-209944019	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs12076385	chr1:209944027-209944028	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs377071097	chr1:209944039-209944040	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 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	21611746	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

Chromatin state (count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209931000-209943200	Weak transcription	Lung	lung
2	chr1:209931000-209943600	Weak transcription	Gastric	stomach
3	chr1:209940600-209943600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:209940600-209944200	Flanking Active TSS	Dnd41	blood
5	chr1:209940800-209943800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:209940800-209943800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr1:209940800-209944000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:209940800-209944000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:209940800-209944000	Enhancers	HMEC	breast
10	chr1:209940800-209946200	Enhancers	Fetal Stomach	stomach
11	chr1:209941000-209944000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:209941000-209945800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:209941200-209943400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:209941400-209943200	Weak transcription	Fetal Intestine Large	intestine
15	chr1:209941400-209943600	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr1:209941400-209943800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:209941400-209943800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:209941400-209943800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:209941400-209944200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr1:209941400-209944400	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr1:209941400-209945000	Flanking Active TSS	GM12878-XiMat	blood
22	chr1:209941600-209943600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr1:209941600-209943600	Active TSS	Thymus	Thymus
24	chr1:209941600-209943800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:209941600-209943800	Enhancers	Brain Hippocampus Middle	brain
26	chr1:209941600-209943800	Enhancers	Fetal Muscle Leg	muscle
27	chr1:209941600-209944000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:209941600-209944200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:209941600-209944400	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr1:209941600-209944400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr1:209941800-209943600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:209941800-209943600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr1:209941800-209943600	Enhancers	Fetal Lung	lung
34	chr1:209941800-209943800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:209941800-209943800	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr1:209941800-209944000	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr1:209941800-209944600	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr1:209941800-209944800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:209941800-209945000	Enhancers	Left Ventricle	heart
40	chr1:209942000-209943400	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr1:209942000-209943800	Enhancers	Pancreas	Pancrea
42	chr1:209942000-209943800	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr1:209942000-209944000	Enhancers	Brain Cingulate Gyrus	brain
44	chr1:209942000-209944000	Enhancers	HUVEC	blood vessel
45	chr1:209942000-209944200	Enhancers	NHLF	lung
46	chr1:209942000-209944800	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr1:209942000-209944800	Enhancers	Brain Substantia Nigra	brain
48	chr1:209942000-209945400	Enhancers	Placenta	Placenta
49	chr1:209942200-209943200	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr1:209942200-209943600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links