Variant report

Variant	esv3389445
Chromosome Location	chr12:124245999-124247847
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	ATF2	chr12:124246313-124246745	GM12878	blood:	n/a	n/a
2	BACH1	chr12:124246270-124247527	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr12:124246296-124247346	GM12878	blood:	n/a	chr12:124246703-124246716
4	BCLAF1	chr12:124246261-124247146	GM12878	blood:	n/a	chr12:124246703-124246716
5	BHLHE40	chr12:124246441-124247015	GM12878	blood:	n/a	chr12:124246694-124246710 chr12:124246783-124246799 chr12:124246573-124246589 chr12:124246545-124246561 chr12:124246556-124246572
6	BRCA1	chr12:124246989-124247019	HepG2	liver:	n/a	n/a
7	CCNT2	chr12:124246551-124246673	K562	blood:	n/a	n/a
8	CEBPB	chr12:124247494-124247555	HepG2	liver:	n/a	n/a
9	CHD1	chr12:124246357-124246483	GM12878	blood:	n/a	n/a
10	CHD2	chr12:124247216-124247304	HepG2	liver:	n/a	n/a
11	CHD2	chr12:124246368-124247223	H1-hESC	embryonic stem cell:	n/a	chr12:124246786-124246796
12	CREB1	chr12:124246347-124247226	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTBP2	chr12:124246409-124247336	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr12:124246400-124246550	BJ	skin:	n/a	n/a
15	CTCF	chr12:124246549-124246632	Pancreas_OC	pancreas:	n/a	chr12:124246572-124246585
16	CTCF	chr12:124246480-124246630	NHLF	lung:	n/a	chr12:124246572-124246585
17	CTCF	chr12:124246292-124246752	HepG2	liver:	n/a	chr12:124246572-124246585
18	CTCF	chr12:124246260-124246410	HAc	cerebellar:	n/a	n/a
19	CTCF	chr12:124246568-124246626	Kidney_OC	kidney:	n/a	chr12:124246572-124246585
20	CTCF	chr12:124246440-124246590	GM12878	blood:	n/a	chr12:124246572-124246585
21	CTCF	chr12:124246450-124246710	GM10266	blood:	n/a	chr12:124246572-124246585
22	CTCF	chr12:124246476-124246673	GM13976	blood:	n/a	chr12:124246572-124246585
23	CTCF	chr12:124246480-124246630	SAEC	small airway:	n/a	chr12:124246572-124246585
24	CTCF	chr12:124246520-124246670	GM12865	blood:	n/a	chr12:124246572-124246585
25	CTCF	chr12:124246440-124246590	GM12864	blood:	n/a	chr12:124246572-124246585
26	CTCF	chr12:124246572-124246577	MCF-7	breast:	n/a	n/a
27	CTCF	chr12:124246411-124246681	HepG2	liver:	n/a	chr12:124246572-124246585
28	CTCF	chr12:124246420-124246570	GM12873	blood:	n/a	n/a
29	CTCF	chr12:124246460-124246610	HAc	cerebellar:	n/a	chr12:124246572-124246585
30	CTCF	chr12:124246357-124246803	H1-hESC	embryonic stem cell:	n/a	chr12:124246572-124246585
31	CTCF	chr12:124246480-124246630	NHDF-neo	bronchial:	n/a	chr12:124246572-124246585
32	CTCF	chr12:124246500-124246650	GM12869	blood:	n/a	chr12:124246572-124246585
33	CTCF	chr12:124246440-124246590	AG09309	skin:	n/a	chr12:124246572-124246585
34	CTCF	chr12:124246480-124246630	HEK293	kidney:	n/a	chr12:124246572-124246585
35	CTCF	chr12:124246431-124246713	GM19240	blood:	n/a	chr12:124246572-124246585
36	CTCF	chr12:124246480-124246630	HPAF	blood vessel:	n/a	chr12:124246572-124246585
37	CTCF	chr12:124246480-124246630	GM12864	blood:	n/a	chr12:124246572-124246585
38	CTCF	chr12:124246504-124246648	MCF-7	breast:	n/a	chr12:124246572-124246585
39	CTCF	chr12:124246500-124246650	GM12875	blood:	n/a	chr12:124246572-124246585
40	CTCF	chr12:124246520-124246670	GM12871	blood:	n/a	chr12:124246572-124246585
41	CTCF	chr12:124246462-124246725	Spleen_OC	spleen:	n/a	chr12:124246572-124246585
42	CTCF	chr12:124246500-124246650	HA-sp	spinal cord:	n/a	chr12:124246572-124246585
43	CTCF	chr12:124246425-124246717	IMR90	lung:	n/a	chr12:124246572-124246585
44	CTCF	chr12:124246500-124246650	GM12878	blood:	n/a	chr12:124246572-124246585
45	CTCF	chr12:124246440-124246590	HUVEC	blood vessel:	n/a	chr12:124246572-124246585
46	CTCF	chr12:124246300-124246450	NHDF-neo	bronchial:	n/a	n/a
47	CTCF	chr12:124246460-124246610	GM12864	blood:	n/a	chr12:124246572-124246585
48	CTCF	chr12:124246460-124246610	HCPEpiC	choroid plexus:	n/a	chr12:124246572-124246585
49	CTCF	chr12:124246460-124246610	HEK293	kidney:	n/a	chr12:124246572-124246585
50	CTCF	chr12:124246460-124246610	SAEC	small airway:	n/a	chr12:124246572-124246585

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:124246446-124246496	AG04449	skin:	fetal
2	chr12:124247047-124247097	H1-hESC	embryonic stem cell:	embryo
3	chr12:124246919-124246969	A549	lung:	n/a
4	chr12:124247223-124247273	HCT-116	colon:	n/a
5	chr12:124247223-124247273	AG04449	skin:	fetal
6	chr12:124247223-124247273	HIPEpiC	eye:	n/a
7	chr12:124247047-124247097	HRE	kidney:	n/a
8	chr12:124246927-124246977	PrEC	prostate:	n/a
9	chr12:124247047-124247097	NHBE	bronchial:	n/a
10	chr12:124246919-124246969	IMR90	lung:	fetal
11	chr12:124247223-124247273	BE2_C	brain:	n/a
12	chr12:124246434-124246484	SK-N-SH_RA	brain:	n/a
13	chr12:124246919-124246969	ovcar-3	ovarian:	n/a
14	chr12:124246919-124246969	NT2-D1	testis:	n/a
15	chr12:124246919-124246969	GM12892	blood:	n/a
16	chr12:124246446-124246496	ovcar-3	ovarian:	n/a
17	chr12:124246919-124246969	HAEpiC	amniotic membrane:	n/a
18	chr12:124246391-124246441	Hepatocyte	liver:	n/a
19	chr12:124246927-124246977	ECC-1	luminal epithelium:	n/a
20	chr12:124247047-124247097	ProgFib	skin:	n/a
21	chr12:124246391-124246441	AG04449	skin:	fetal
22	chr12:124246446-124246496	GM19239	blood:	n/a
23	chr12:124247047-124247097	SK-N-SH	brain:	n/a
24	chr12:124247223-124247273	GM12878	blood:	n/a
25	chr12:124246927-124246977	HCPEpiC	choroid plexus:	n/a
26	chr12:124246525-124246575	GM19239	blood:	n/a
27	chr12:124246927-124246977	K562	blood:	n/a
28	chr12:124246525-124246575	ProgFib	skin:	n/a
29	chr12:124246446-124246496	HRCEpiC	kidney:	n/a
30	chr12:124246391-124246441	HL-60	blood:	n/a
31	chr12:124246525-124246575	RPTEC	kidney:	n/a
32	chr12:124247223-124247273	CMK	blood:	n/a
33	chr12:124246525-124246575	Caco-2	colon:	n/a
34	chr12:124246525-124246575	NB4	blood:	n/a
35	chr12:124247047-124247097	HepG2	liver:	n/a
36	chr12:124246446-124246496	BJ	skin:	n/a
37	chr12:124246434-124246484	GM12892	blood:	n/a
38	chr12:124246919-124246969	HCT-116	colon:	n/a
39	chr12:124246391-124246441	HRE	kidney:	n/a
40	chr12:124246525-124246575	CMK	blood:	n/a
41	chr12:124246391-124246441	A549	lung:	n/a
42	chr12:124246391-124246441	HNPCEpiC	eye:	n/a
43	chr12:124246525-124246575	T-47D	breast:	n/a
44	chr12:124246446-124246496	SK-N-SH_RA	brain:	n/a
45	chr12:124246434-124246484	AoSMC	blood vessel:	n/a
46	chr12:124246919-124246969	HNPCEpiC	eye:	n/a
47	chr12:124246446-124246496	HPAEpiC	pulmonary alveolar:	n/a
48	chr12:124247223-124247273	IMR90	lung:	fetal
49	chr12:124246927-124246977	T-47D	breast:	n/a
50	chr12:124246446-124246496	Caco-2	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:124239074..124241226-chr12:124246281..124247802,2	K562	blood:
2	chr12:124243395..124246138-chr12:124246232..124249916,3	K562	blood:
3	chr12:124238409..124242727-chr12:124245328..124248805,4	MCF-7	breast:

Variant related genes	Relation type
DNAH10	TF binding region
DNAH10	CpG island
ENSG00000185344	chromatin interactions
ENSG00000197653	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 69 )

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	rs2333834	chr12:124246004-124246005	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs73420351	chr12:124246132-124246133	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs556596882	chr12:124246142-124246143	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs73420352	chr12:124246182-124246183	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs77670478	chr12:124246233-124246234	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs535362776	chr12:124246242-124246243	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs2651	chr12:124246244-124246245	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs572752989	chr12:124246445-124246446	Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs540144056	chr12:124246471-124246472	Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs564898104	chr12:124246488-124246489	Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs550149488	chr12:124246552-124246553	Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs576990224	chr12:124246565-124246566	Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs112486008	chr12:124246567-124246568	Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs111806547	chr12:124246603-124246604	Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs377453955	chr12:124246609-124246610	Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs562588433	chr12:124246619-124246620	Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs529795323	chr12:124246643-124246644	Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs564041646	chr12:124246659-124246660	Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs548207411	chr12:124246660-124246661	Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs560195044	chr12:124246695-124246696	Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs36046459	chr12:124246711-124246712	Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs543532219	chr12:124246727-124246728	Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs552924045	chr12:124246735-124246736	Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs563536759	chr12:124246765-124246766	Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs34862219	chr12:124246776-124246777	Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs571083565	chr12:124246790-124246791	Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs369848914	chr12:124246871-124246872	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs538416949	chr12:124246877-124246878	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs192732961	chr12:124246902-124246903	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs116918834	chr12:124246910-124246911	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs535557000	chr12:124246971-124246972	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs553708367	chr12:124246994-124246995	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs371020253	chr12:124247051-124247052	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs572124409	chr12:124247074-124247075	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs373084498	chr12:124247088-124247089	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs377606125	chr12:124247115-124247116	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs558793917	chr12:124247171-124247172	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs577098062	chr12:124247200-124247201	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs79730733	chr12:124247209-124247210	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs73420355	chr12:124247212-124247213	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs142426734	chr12:124247239-124247240	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs138129021	chr12:124247266-124247267	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs73420356	chr12:124247332-124247333	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs185178812	chr12:124247353-124247354	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs7968274	chr12:124247355-124247356	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs551917783	chr12:124247392-124247393	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs374292318	chr12:124247443-124247444	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs531959448	chr12:124247483-124247484	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs190005359	chr12:124247484-124247485	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs560089446	chr12:124247487-124247488	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124201800-124247800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:124203600-124246000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:124203800-124248000	Strong transcription	Dnd41	blood
4	chr12:124221800-124246200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:124224200-124246400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:124229800-124246400	Weak transcription	Psoas Muscle	Psoas
7	chr12:124230200-124246000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:124232000-124246400	Weak transcription	NHDF-Ad	bronchial
9	chr12:124234200-124247400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:124234400-124246000	Weak transcription	Hela-S3	cervix
11	chr12:124234800-124246400	Weak transcription	Stomach Mucosa	stomach
12	chr12:124235000-124246200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:124235400-124246000	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:124235400-124246400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:124239600-124246000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:124239600-124246000	Weak transcription	Placenta	Placenta
17	chr12:124239600-124246000	Weak transcription	NHEK	skin
18	chr12:124239600-124246200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr12:124239600-124246200	Weak transcription	NH-A	brain
20	chr12:124239800-124246000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:124239800-124246000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:124239800-124246000	Weak transcription	Fetal Kidney	kidney
23	chr12:124239800-124246000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:124239800-124246000	Weak transcription	HUVEC	blood vessel
25	chr12:124239800-124246200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:124239800-124246200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr12:124239800-124246200	Weak transcription	Brain Anterior Caudate	brain
28	chr12:124239800-124246200	Weak transcription	Colonic Mucosa	Colon
29	chr12:124239800-124246400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:124239800-124246400	Weak transcription	Aorta	Aorta
31	chr12:124239800-124246400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:124239800-124246400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:124239800-124246400	Weak transcription	HMEC	breast
34	chr12:124239800-124246800	Weak transcription	Brain Angular Gyrus	brain
35	chr12:124239800-124247200	Weak transcription	HSMM	muscle
36	chr12:124239800-124249400	Weak transcription	Brain Substantia Nigra	brain
37	chr12:124239800-124252000	Weak transcription	K562	blood
38	chr12:124240000-124246200	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:124240000-124246400	Weak transcription	Ovary	ovary
40	chr12:124241200-124246000	Weak transcription	Primary B cells from cord blood	blood
41	chr12:124241200-124246400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr12:124241200-124246400	Weak transcription	Small Intestine	intestine
43	chr12:124241400-124246000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:124241400-124246000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:124241400-124246400	Weak transcription	Pancreas	Pancrea
46	chr12:124241600-124246000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr12:124241600-124246000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr12:124241600-124246200	Weak transcription	Thymus	Thymus
49	chr12:124241600-124246400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr12:124241600-124246400	Weak transcription	Esophagus	oesophagus

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