Variant report

Variant	nsv826368
Chromosome Location	chr12:49726310-49731802
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	ARID3A	chr12:49730969-49731133	HepG2	liver:	n/a	n/a
2	BACH1	chr12:49730843-49731150	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr12:49729893-49729929	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr12:49730942-49731178	GM12878	blood:	n/a	n/a
5	BHLHE40	chr12:49730879-49731088	K562	blood:	n/a	n/a
6	CBX3	chr12:49730723-49731177	K562	blood:	n/a	n/a
7	CCNT2	chr12:49730752-49731410	K562	blood:	n/a	chr12:49731046-49731055
8	CHD2	chr12:49730975-49731049	Hela-S3	cervix:	n/a	n/a
9	CREB1	chr12:49730793-49731161	H1-hESC	embryonic stem cell:	n/a	n/a
10	CREB1	chr12:49730610-49731203	A549	lung:	n/a	n/a
11	CTBP2	chr12:49730172-49731050	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr12:49730960-49731110	GM12866	blood:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
13	CTCF	chr12:49730920-49731070	HEK293	kidney:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
14	CTCF	chr12:49730960-49731110	GM12872	blood:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
15	CTCF	chr12:49728902-49728962	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr12:49730884-49731153	ProgFib	skin:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
17	CTCF	chr12:49731200-49731350	GM12873	blood:	n/a	n/a
18	CTCF	chr12:49730801-49731189	T-47D	breast:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
19	CTCF	chr12:49730912-49731143	MCF-7	breast:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
20	CTCF	chr12:49730920-49731070	HepG2	liver:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
21	CTCF	chr12:49730940-49731090	HBMEC	blood vessel:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
22	CTCF	chr12:49730838-49731120	ECC-1	luminal epithelium:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
23	CTCF	chr12:49730854-49731195	GM19238	blood:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
24	CTCF	chr12:49730940-49731090	AG04450	lung:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
25	CTCF	chr12:49730940-49731090	GM12872	blood:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
26	CTCF	chr12:49730749-49730772	Lung_OC	lung:	n/a	n/a
27	CTCF	chr12:49730180-49730330	HUVEC	blood vessel:	n/a	chr12:49730282-49730300 chr12:49730284-49730297
28	CTCF	chr12:49730960-49731110	GM06990	blood:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
29	CTCF	chr12:49730771-49731065	A549	lung:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
30	CTCF	chr12:49730840-49730990	A549	lung:	n/a	n/a
31	CTCF	chr12:49730960-49731110	AG10803	skin:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
32	CTCF	chr12:49730887-49731162	MCF-7	breast:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
33	CTCF	chr12:49730940-49731090	HCT-116	colon:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
34	CTCF	chr12:49730960-49731110	GM12864	blood:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
35	CTCF	chr12:49730940-49731090	HepG2	liver:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
36	CTCF	chr12:49730940-49731090	GM12878	blood:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
37	CTCF	chr12:49730689-49730738	GM12892	blood:	n/a	n/a
38	CTCF	chr12:49730940-49731090	HCM	heart:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
39	CTCF	chr12:49730885-49731142	A549	lung:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
40	CTCF	chr12:49730920-49731070	NHLF	lung:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
41	CTCF	chr12:49730834-49731164	Spleen_OC	spleen:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
42	CTCF	chr12:49730611-49731324	HCT-116	colon:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
43	CTCF	chr12:49730867-49731180	GM19239	blood:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
44	CTCF	chr12:49730940-49731090	GM12875	blood:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
45	CTCF	chr12:49730940-49731090	HRPEpiC	eye:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
46	CTCF	chr12:49730871-49731184	GM19240	blood:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
47	CTCF	chr12:49730920-49731070	HUVEC	blood vessel:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
48	CTCF	chr12:49730899-49731125	GM10248	blood:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
49	CTCF	chr12:49730960-49731110	AG04450	lung:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029
50	CTCF	chr12:49730920-49731070	AG10803	skin:	n/a	chr12:49731014-49731032 chr12:49731015-49731031 chr12:49731017-49731027 chr12:49731020-49731029

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:49731125-49731175	RPTEC	kidney:	n/a
2	chr12:49731125-49731175	RPTEC	kidney:	n/a
3	chr12:49730055-49730105	NT2-D1	testis:	n/a
4	chr12:49731393-49731443	HRPEpiC	eye:	n/a
5	chr12:49731152-49731202	ovcar-3	ovarian:	n/a
6	chr12:49728243-49728293	HNPCEpiC	eye:	n/a
7	chr12:49730800-49730850	NHDF-neo	bronchial:	n/a
8	chr12:49730687-49730737	HRE	kidney:	n/a
9	chr12:49727110-49727160	IMR90	lung:	fetal
10	chr12:49728243-49728293	HCT-116	colon:	n/a
11	chr12:49727110-49727160	ovcar-3	ovarian:	n/a
12	chr12:49730211-49730261	GM19239	blood:	n/a
13	chr12:49728150-49728200	GM19239	blood:	n/a
14	chr12:49731189-49731239	AG10803	skin:	n/a
15	chr12:49726893-49726943	PrEC	prostate:	n/a
16	chr12:49726500-49726550	Hela-S3	cervix:	n/a
17	chr12:49726500-49726550	T-47D	breast:	n/a
18	chr12:49726893-49726943	HIPEpiC	eye:	n/a
19	chr12:49726661-49726711	HUVEC	blood vessel:	n/a
20	chr12:49730800-49730850	MCF-7	breast:	n/a
21	chr12:49726500-49726550	SAEC	small airway:	n/a
22	chr12:49731125-49731175	PFSK-1	brain:	n/a
23	chr12:49731152-49731202	NB4	blood:	n/a
24	chr12:49726893-49726943	AG04450	lung:	fetal
25	chr12:49731640-49731690	BE2_C	brain:	n/a
26	chr12:49730211-49730261	GM12878	blood:	n/a
27	chr12:49731393-49731443	Hela-S3	cervix:	n/a
28	chr12:49730687-49730737	H1-hESC	embryonic stem cell:	embryo
29	chr12:49730800-49730850	SK-N-MC	brain:	n/a
30	chr12:49726893-49726943	T-47D	breast:	n/a
31	chr12:49727110-49727160	NH-A	brain:	n/a
32	chr12:49727110-49727160	K562	blood:	n/a
33	chr12:49731189-49731239	LNCaP	prostate:	n/a
34	chr12:49730800-49730850	HL-60	blood:	n/a
35	chr12:49731640-49731690	LNCaP	prostate:	n/a
36	chr12:49726893-49726943	IMR90	lung:	fetal
37	chr12:49731640-49731690	HPAEpiC	pulmonary alveolar:	n/a
38	chr12:49730687-49730737	HPAEpiC	pulmonary alveolar:	n/a
39	chr12:49731640-49731690	HNPCEpiC	eye:	n/a
40	chr12:49731125-49731175	NH-A	brain:	n/a
41	chr12:49730800-49730850	PANC-1	pancreas:	n/a
42	chr12:49728243-49728293	HIPEpiC	eye:	n/a
43	chr12:49731152-49731202	Hepatocyte	liver:	n/a
44	chr12:49726661-49726711	HIPEpiC	eye:	n/a
45	chr12:49730211-49730261	CMK	blood:	n/a
46	chr12:49730800-49730850	GM12878	blood:	n/a
47	chr12:49730211-49730261	PANC-1	pancreas:	n/a
48	chr12:49730211-49730261	HCPEpiC	choroid plexus:	n/a
49	chr12:49730211-49730261	HEEpiC	esophagus:	n/a
50	chr12:49731640-49731690	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:49523734..49526055-chr12:49729624..49732129,2	K562	blood:
2	chr12:49724052..49726858-chr12:49947435..49949990,2	K562	blood:
3	chr12:49728027..49730101-chr12:49766863..49769705,2	MCF-7	breast:
4	chr12:49657748..49660512-chr12:49730264..49732689,3	MCF-7	breast:
5	chr12:49724272..49727239-chr12:49903612..49905113,2	MCF-7	breast:
6	chr12:49730111..49734791-chr12:49758969..49762593,4	MCF-7	breast:
7	chr12:49680691..49694205-chr12:49725987..49738512,25	K562	blood:
8	chr12:49718387..49720260-chr12:49728335..49730254,2	MCF-7	breast:
9	chr12:49724830..49727128-chr12:49748718..49750720,2	MCF-7	breast:
10	chr12:49729980..49732705-chr12:49760412..49762088,2	K562	blood:
11	chr12:49726361..49727184-chr12:49741012..49741811,2	K562	blood:
12	chr12:49667825..49672911-chr12:49731373..49736764,7	K562	blood:
13	chr12:49655321..49661148-chr12:49729487..49743115,26	K562	blood:
14	chr12:49689191..49691482-chr12:49728607..49731292,2	MCF-7	breast:
15	chr12:49685493..49694205-chr12:49728829..49734805,16	K562	blood:
16	chr12:49725445..49728074-chr12:49906723..49908928,2	MCF-7	breast:
17	chr12:49690361..49691961-chr12:49725710..49727427,2	MCF-7	breast:
18	chr12:49681839..49682839-chr12:49731008..49731599,2	MCF-7	breast:
19	chr12:49725372..49727025-chr12:49731927..49734033,2	MCF-7	breast:
20	chr12:49725096..49726573-chr12:49750546..49751554,11	MCF-7	breast:
21	chr12:49725094..49726383-chr12:49741023..49741965,3	MCF-7	breast:
22	chr12:49731041..49732685-chr12:49940716..49942634,2	MCF-7	breast:
23	chr12:49657860..49660302-chr12:49730399..49733232,3	K562	blood:
24	chr12:49715203..49717456-chr12:49729386..49731841,3	MCF-7	breast:
25	chr12:49726070..49728754-chr12:49729345..49731828,3	MCF-7	breast:
26	chr12:49729980..49733163-chr12:49759007..49762779,4	K562	blood:

Variant related genes	Relation type
C1QL4	TF binding region
C1QL4	CpG island
ENSG00000186897	chromatin interactions
ENSG00000258017	chromatin interactions
ENSG00000135519	chromatin interactions
ENSG00000167553	chromatin interactions
ENSG00000123416	chromatin interactions
ENSG00000123352	chromatin interactions
ENSG00000258101	chromatin interactions
ENSG00000135406	chromatin interactions
ENSG00000135451	chromatin interactions

Extended variants
information (count: 220 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:220 , 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	rs59990555	chr12:49726326-49726327	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575402278	chr12:49726356-49726357	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs537986322	chr12:49726388-49726389	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs113263464	chr12:49726438-49726439	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs185864211	chr12:49726523-49726524	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs151315540	chr12:49726649-49726650	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs540120907	chr12:49726652-49726653	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs10650135	chr12:49726654-49726655	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs138716314	chr12:49726681-49726682	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs572852974	chr12:49726710-49726711	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs56911877	chr12:49726717-49726718	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs200478618	chr12:49726725-49726726	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs564976730	chr12:49726744-49726745	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs530893234	chr12:49726762-49726763	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs149443619	chr12:49726775-49726776	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs201910777	chr12:49726787-49726788	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs530340446	chr12:49726797-49726798	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs377717300	chr12:49726815-49726816	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs191548714	chr12:49726829-49726830	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs374251837	chr12:49726833-49726834	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs368459150	chr12:49726843-49726844	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs144219849	chr12:49726851-49726852	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs146543398	chr12:49726861-49726862	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs367601077	chr12:49726862-49726863	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs149129351	chr12:49726897-49726898	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs371867772	chr12:49726909-49726910	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs143197428	chr12:49726930-49726931	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs144828464	chr12:49726969-49726970	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs375125890	chr12:49726972-49726973	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs369237909	chr12:49726975-49726976	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs373941141	chr12:49727002-49727003	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs568899580	chr12:49727021-49727022	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs199768068	chr12:49727024-49727025	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs537923219	chr12:49727045-49727046	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs377076234	chr12:49727058-49727059	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs568132547	chr12:49727065-49727066	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs368229987	chr12:49727066-49727067	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs374263688	chr12:49727087-49727088	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs113910265	chr12:49727094-49727095	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs533992419	chr12:49727145-49727146	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs80024114	chr12:49727268-49727269	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs372794441	chr12:49727269-49727270	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs566511821	chr12:49727272-49727273	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs533769758	chr12:49727312-49727313	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs369425945	chr12:49727326-49727327	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs371500176	chr12:49727343-49727344	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs545735895	chr12:49727459-49727460	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs148569192	chr12:49727464-49727465	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs555218819	chr12:49727523-49727524	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs567265273	chr12:49727540-49727541	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:565 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49717400-49726800	Weak transcription	Right Atrium	heart
2	chr12:49717800-49727000	Weak transcription	Esophagus	oesophagus
3	chr12:49718000-49726400	Weak transcription	Primary B cells from cord blood	blood
4	chr12:49718000-49730200	Weak transcription	Gastric	stomach
5	chr12:49721400-49727000	Weak transcription	NHDF-Ad	bronchial
6	chr12:49721600-49729600	Weak transcription	HSMM	muscle
7	chr12:49721800-49726400	Weak transcription	HUVEC	blood vessel
8	chr12:49724400-49727000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr12:49724600-49726400	Genic enhancers	A549	lung
10	chr12:49724600-49727000	Bivalent Enhancer	Fetal Stomach	stomach
11	chr12:49724600-49727000	Weak transcription	Osteobl	bone
12	chr12:49724600-49728800	Weak transcription	GM12878-XiMat	blood
13	chr12:49724800-49726600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:49725000-49726800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:49725000-49726800	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr12:49725000-49727000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:49725000-49727000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:49725000-49727000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr12:49725000-49728600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:49725000-49728600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:49725200-49726400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr12:49725200-49726800	Weak transcription	HMEC	breast
23	chr12:49725400-49726400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:49725400-49726400	Weak transcription	NHEK	skin
25	chr12:49725400-49726600	Enhancers	Placenta	Placenta
26	chr12:49725400-49727000	Weak transcription	NHLF	lung
27	chr12:49725400-49728600	Weak transcription	HSMMtube	muscle
28	chr12:49725400-49730400	Weak transcription	Dnd41	blood
29	chr12:49725600-49726400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:49725600-49726800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:49725600-49727000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
32	chr12:49725600-49728000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:49725800-49726400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:49725800-49726600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:49725800-49726600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:49725800-49730400	Weak transcription	Hela-S3	cervix
37	chr12:49726000-49726400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:49726000-49726600	Bivalent Enhancer	Brain Germinal Matrix	brain
39	chr12:49726000-49726800	Weak transcription	Liver	Liver
40	chr12:49726000-49727000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr12:49726000-49727400	Bivalent Enhancer	Fetal Intestine Large	intestine
42	chr12:49726200-49726400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
43	chr12:49726200-49726400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
44	chr12:49726200-49726400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:49726200-49726600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:49726200-49727400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr12:49726400-49726600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
48	chr12:49726400-49726600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
49	chr12:49726400-49726600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:49726400-49726600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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