Variant report

Variant	esv3410020
Chromosome Location	chr12:51475910-51478458
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:621)
CpG islands
(count:794)
Chromatin interactive
region (count:64)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:621 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:51476698-51476776	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:51477258-51477521	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:51477323-51477689	K562	blood:	n/a	n/a
4	ATF1	chr12:51477293-51477637	K562	blood:	n/a	n/a
5	ATF2	chr12:51477169-51477652	GM12878	blood:	n/a	n/a
6	ATF2	chr12:51477181-51477600	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr12:51477263-51477615	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr12:51477301-51477630	K562	blood:	n/a	n/a
9	BACH1	chr12:51477611-51477676	K562	blood:	n/a	n/a
10	BCL3	chr12:51477142-51477775	A549	lung:	n/a	n/a
11	BCL3	chr12:51476826-51477763	A549	lung:	n/a	chr12:51477093-51477102
12	BCLAF1	chr12:51477113-51477686	GM12878	blood:	n/a	n/a
13	BCLAF1	chr12:51477205-51477702	K562	blood:	n/a	n/a
14	BCLAF1	chr12:51477200-51477627	GM12878	blood:	n/a	n/a
15	BHLHE40	chr12:51476879-51477615	K562	blood:	n/a	chr12:51477330-51477346 chr12:51476982-51476998
16	BHLHE40	chr12:51476796-51477629	GM12878	blood:	n/a	chr12:51477330-51477346 chr12:51476982-51476998
17	BRCA1	chr12:51477232-51477637	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr12:51477157-51477610	HepG2	liver:	n/a	n/a
19	BRCA1	chr12:51476669-51476677	HepG2	liver:	n/a	n/a
20	CBX3	chr12:51477149-51477778	K562	blood:	n/a	n/a
21	CBX3	chr12:51477341-51477674	K562	blood:	n/a	n/a
22	CCNT2	chr12:51476798-51477662	K562	blood:	n/a	chr12:51476969-51476978
23	CEBPB	chr12:51477329-51477717	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr12:51477258-51477759	MCF-7	breast:	n/a	n/a
25	CEBPB	chr12:51477349-51477658	HepG2	liver:	n/a	n/a
26	CEBPB	chr12:51477322-51477711	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr12:51477368-51477724	K562	blood:	n/a	n/a
28	CEBPD	chr12:51477027-51477624	HepG2	liver:	n/a	n/a
29	CEBPD	chr12:51477175-51477508	HepG2	liver:	n/a	n/a
30	CHD1	chr12:51477116-51477719	GM12878	blood:	n/a	n/a
31	CHD1	chr12:51476683-51477655	H1-hESC	embryonic stem cell:	n/a	chr12:51476967-51476977
32	CHD2	chr12:51477165-51477549	HepG2	liver:	n/a	n/a
33	CHD2	chr12:51476939-51477733	H1-hESC	embryonic stem cell:	n/a	chr12:51476967-51476977
34	CHD2	chr12:51476922-51477672	Hela-S3	cervix:	n/a	chr12:51476967-51476977
35	CHD2	chr12:51477159-51477633	GM12878	blood:	n/a	n/a
36	CHD2	chr12:51476660-51477729	K562	blood:	n/a	chr12:51476967-51476977
37	CREB1	chr12:51477248-51477630	ECC-1	luminal epithelium:	n/a	n/a
38	CREB1	chr12:51476766-51477711	A549	lung:	n/a	n/a
39	CREB1	chr12:51477181-51477757	K562	blood:	n/a	n/a
40	CREB1	chr12:51477230-51477544	A549	lung:	n/a	n/a
41	CREB1	chr12:51476888-51477726	GM12878	blood:	n/a	n/a
42	CREB1	chr12:51477220-51477653	H1-hESC	embryonic stem cell:	n/a	n/a
43	CREB1	chr12:51476754-51477742	HepG2	liver:	n/a	n/a
44	CREB1	chr12:51477094-51477750	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr12:51477340-51477363	GM10248	blood:	n/a	n/a
46	CTCF	chr12:51477280-51477430	AG04449	skin:	n/a	chr12:51477331-51477344
47	CTCF	chr12:51477280-51477430	AG09319	gingival:	n/a	chr12:51477331-51477344
48	CTCF	chr12:51477280-51477430	HRE	kidney:	n/a	chr12:51477331-51477344
49	CTCF	chr12:51477460-51477610	BJ	skin:	n/a	n/a
50	CTCF	chr12:51477194-51477513	IMR90	lung:	n/a	chr12:51477331-51477344

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:51477468-51477518	U87	brain:	n/a
2	chr12:51477468-51477518	U87	brain:	n/a
3	chr12:51477122-51477172	HMEC	breast:	n/a
4	chr12:51477739-51477789	AG10803	skin:	n/a
5	chr12:51477546-51477596	HRPEpiC	eye:	n/a
6	chr12:51477072-51477122	HCM	heart:	n/a
7	chr12:51477551-51477601	PFSK-1	brain:	n/a
8	chr12:51477358-51477408	PrEC	prostate:	n/a
9	chr12:51477122-51477172	PrEC	prostate:	n/a
10	chr12:51477358-51477408	AG10803	skin:	n/a
11	chr12:51477739-51477789	NB4	blood:	n/a
12	chr12:51477413-51477463	T-47D	breast:	n/a
13	chr12:51477739-51477789	SK-N-SH	brain:	n/a
14	chr12:51477546-51477596	GM19239	blood:	n/a
15	chr12:51477122-51477172	Hepatocyte	liver:	n/a
16	chr12:51477521-51477571	NT2-D1	testis:	n/a
17	chr12:51477122-51477172	GM06990	blood:	n/a
18	chr12:51477358-51477408	MCF10A-Er-Src	breast:	n/a
19	chr12:51476537-51476587	HIPEpiC	eye:	n/a
20	chr12:51477072-51477122	GM12892	blood:	n/a
21	chr12:51477551-51477601	H1-hESC	embryonic stem cell:	embryo
22	chr12:51477551-51477601	AG09309	skin:	n/a
23	chr12:51477739-51477789	HCT-116	colon:	n/a
24	chr12:51476537-51476587	ovcar-3	ovarian:	n/a
25	chr12:51476537-51476587	NHDF-neo	bronchial:	n/a
26	chr12:51477527-51477577	NHBE	bronchial:	n/a
27	chr12:51477122-51477172	HPAEpiC	pulmonary alveolar:	n/a
28	chr12:51477539-51477589	ovcar-3	ovarian:	n/a
29	chr12:51477122-51477172	HRCEpiC	kidney:	n/a
30	chr12:51477358-51477408	SK-N-SH_RA	brain:	n/a
31	chr12:51477527-51477577	HL-60	blood:	n/a
32	chr12:51477739-51477789	ECC-1	luminal epithelium:	n/a
33	chr12:51477551-51477601	NHBE	bronchial:	n/a
34	chr12:51477546-51477596	HRE	kidney:	n/a
35	chr12:51477122-51477172	Hela-S3	cervix:	n/a
36	chr12:51477521-51477571	H1-hESC	embryonic stem cell:	embryo
37	chr12:51477546-51477596	BE2_C	brain:	n/a
38	chr12:51477122-51477172	PFSK-1	brain:	n/a
39	chr12:51477693-51477743	AG09309	skin:	n/a
40	chr12:51477551-51477601	HPAEpiC	pulmonary alveolar:	n/a
41	chr12:51476537-51476587	NT2-D1	testis:	n/a
42	chr12:51477413-51477463	CMK	blood:	n/a
43	chr12:51477468-51477518	HCM	heart:	n/a
44	chr12:51477539-51477589	NT2-D1	testis:	n/a
45	chr12:51477739-51477789	T-47D	breast:	n/a
46	chr12:51477546-51477596	HCT-116	colon:	n/a
47	chr12:51477122-51477172	GM19239	blood:	n/a
48	chr12:51476537-51476587	K562	blood:	n/a
49	chr12:51477122-51477172	BE2_C	brain:	n/a
50	chr12:51477539-51477589	AG09309	skin:	n/a

(count:64 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:51440588..51444188-chr12:51475693..51478745,10	K562	blood:
2	chr12:51476770..51477633-chr13:47127114..47127785,2	MCF-7	breast:
3	chr12:51474899..51476446-chr12:51660512..51663496,2	K562	blood:
4	chr12:51440271..51447226-chr12:51475135..51479930,16	MCF-7	breast:
5	chr12:51475743..51478565-chr12:51589965..51591842,3	MCF-7	breast:
6	chr12:51476081..51477615-chr12:51555734..51558069,2	MCF-7	breast:
7	chr12:51474677..51478892-chr12:51609953..51613954,8	K562	blood:
8	chr12:51477518..51478122-chr12:51735376..51736120,2	K562	blood:
9	chr12:51468579..51474515-chr12:51475298..51478642,16	K562	blood:
10	chr12:51317560..51319540-chr12:51475708..51478523,2	K562	blood:
11	chr12:51449198..51451184-chr12:51475118..51478098,2	K562	blood:
12	chr12:51475610..51478830-chr12:51601366..51604899,4	MCF-7	breast:
13	chr12:51474365..51478814-chr12:51563597..51568148,9	K562	blood:
14	chr12:51475046..51479825-chr12:51631265..51637401,17	MCF-7	breast:
15	chr12:51476908..51477769-chr17:41465750..41466262,2	Hela-S3	cervix:
16	chr12:51475846..51477585-chr12:51782020..51786385,4	MCF-7	breast:
17	chr12:51474365..51480004-chr12:51564069..51568503,12	K562	blood:
18	chr12:51477083..51477763-chr5:60457969..60458573,2	Hela-S3	cervix:
19	chr12:51475832..51478799-chr12:51610420..51612899,6	K562	blood:
20	chr12:51473248..51478369-chr12:51498942..51502935,5	MCF-7	breast:
21	chr12:51475893..51478796-chr7:156799468..156802078,2	MCF-7	breast:
22	chr12:51475955..51479039-chr12:51590902..51594960,4	K562	blood:
23	chr12:51475685..51480588-chr12:51631516..51635411,7	K562	blood:
24	chr12:51156583..51159237-chr12:51477140..51478642,2	MCF-7	breast:
25	chr12:51419952..51421943-chr12:51475612..51477490,4	K562	blood:
26	chr12:51476711..51478527-chr15:22832264..22834283,2	MCF-7	breast:
27	chr12:51476941..51478857-chr12:51596013..51598733,2	MCF-7	breast:
28	chr12:51475977..51480172-chr12:51631546..51634625,6	K562	blood:
29	chr1:144533622..144534350-chr12:51476813..51477576,2	Hela-S3	cervix:
30	chr12:51419463..51422870-chr12:51476162..51478400,3	K562	blood:
31	chr12:51442002..51442637-chr12:51476673..51477253,2	Hela-S3	cervix:
32	chr12:51474566..51481175-chr12:51630411..51639813,21	MCF-7	breast:
33	chr12:51154877..51158479-chr12:51475248..51478841,3	K562	blood:
34	chr12:51476890..51477794-chr13:60971024..60971613,2	NB4	blood:
35	chr12:51476647..51477383-chr15:59396869..59397844,2	Hela-S3	cervix:
36	chr11:62608959..62610579-chr12:51475660..51478228,2	MCF-7	breast:
37	chr12:51419545..51420090-chr12:51477089..51478060,2	Hela-S3	cervix:
38	chr12:51476335..51478466-chr12:51598022..51600514,2	K562	blood:
39	chr12:51477125..51477670-chr20:30194535..30195533,2	HCT-116	colon:
40	chr12:51155941..51160401-chr12:51475746..51478915,6	K562	blood:
41	chr12:51475900..51479120-chr12:51609514..51613581,8	MCF-7	breast:
42	chr12:51477304..51478034-chr14:52118103..52118839,2	MCF-7	breast:
43	chr12:51474348..51478730-chr12:51495114..51501288,7	K562	blood:
44	chr12:51440588..51444188-chr12:51475774..51478819,7	K562	blood:
45	chr12:51476664..51478784-chr12:51519007..51521110,2	K562	blood:
46	chr12:51476979..51477514-chr20:30192734..30193287,2	Hela-S3	cervix:
47	chr12:51155753..51160968-chr12:51475872..51478809,5	MCF-7	breast:
48	chr12:51477465..51479681-chr12:51531530..51534326,2	K562	blood:
49	chr12:51475917..51477628-chr12:51596948..51599509,2	MCF-7	breast:
50	chr12:51476120..51478171-chr12:51663790..51665919,2	MCF-7	breast:

No data

Variant related genes	Relation type
CSRNP2	TF binding region
CSRNP2	CpG island
ENSG00000264395	chromatin interactions
ENSG00000136141	chromatin interactions
ENSG00000184271	chromatin interactions
ENSG00000244540	chromatin interactions
ENSG00000199903	chromatin interactions
ENSG00000259112	chromatin interactions
ENSG00000110911	chromatin interactions
ENSG00000135457	chromatin interactions
ENSG00000188725	chromatin interactions
ENSG00000139629	chromatin interactions
ENSG00000125731	chromatin interactions
ENSG00000154978	chromatin interactions
ENSG00000157456	chromatin interactions
ENSG00000050426	chromatin interactions
ENSG00000111011	chromatin interactions
ENSG00000148158	chromatin interactions
ENSG00000130675	chromatin interactions
ENSG00000185432	chromatin interactions
ENSG00000153575	chromatin interactions
ENSG00000151366	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000183283	chromatin interactions
ENSG00000226609	chromatin interactions
ENSG00000257246	chromatin interactions
ENSG00000199824	chromatin interactions
ENSG00000125968	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000083544	chromatin interactions
ENSG00000110925	chromatin interactions
ENSG00000170545	chromatin interactions
ENSG00000050438	chromatin interactions
ENSG00000139926	chromatin interactions
ENSG00000123268	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1112391	chr12:51475963-51475964	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150334609	chr12:51476007-51476008	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs553724188	chr12:51476037-51476038	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs112017092	chr12:51476067-51476068	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs532103051	chr12:51476146-51476147	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
6	rs116975867	chr12:51476176-51476177	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
7	rs551586427	chr12:51476304-51476305	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
8	rs565385869	chr12:51476332-51476333	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
9	rs77349614	chr12:51476387-51476388	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
10	rs181040321	chr12:51476414-51476415	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
11	rs368019412	chr12:51476441-51476442	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
12	rs138382482	chr12:51476460-51476461	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
13	rs530364691	chr12:51476477-51476478	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
14	rs12811684	chr12:51476484-51476485	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs567000472	chr12:51476503-51476504	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
16	rs532744507	chr12:51476522-51476523	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
17	rs552455758	chr12:51476535-51476536	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
18	rs568632570	chr12:51476574-51476575	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
19	rs12297361	chr12:51476601-51476602	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs554177910	chr12:51476628-51476629	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
21	rs567708958	chr12:51476645-51476646	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
22	rs533887003	chr12:51476668-51476669	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
23	rs374704778	chr12:51476669-51476670	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
24	rs369017546	chr12:51476713-51476714	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
25	rs145147718	chr12:51476746-51476747	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
26	rs572424906	chr12:51476821-51476822	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
27	rs577022079	chr12:51476838-51476839	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
28	rs545993603	chr12:51476861-51476862	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
29	rs371384066	chr12:51476896-51476897	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
30	rs556367688	chr12:51476903-51476904	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
31	rs567816436	chr12:51476929-51476930	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
32	rs35537708	chr12:51476968-51476969	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
33	rs575838295	chr12:51476983-51476984	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
34	rs544705802	chr12:51477021-51477022	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
35	rs561309485	chr12:51477025-51477026	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
36	rs530103178	chr12:51477153-51477154	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
37	rs538176360	chr12:51477173-51477174	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
38	rs376642353	chr12:51477190-51477191	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
39	rs187132309	chr12:51477224-51477225	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
40	rs532662577	chr12:51477273-51477274	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
41	rs552380286	chr12:51477306-51477307	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
42	rs548580884	chr12:51477321-51477322	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
43	rs556280774	chr12:51477329-51477330	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
44	rs571741860	chr12:51477337-51477338	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
45	rs139025849	chr12:51477339-51477340	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
46	rs539121192	chr12:51477343-51477344	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
47	rs149440886	chr12:51477347-51477348	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
48	rs533789971	chr12:51477352-51477353	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
49	rs369933642	chr12:51477354-51477355	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
50	rs547041459	chr12:51477357-51477358	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
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
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
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
low-grade B-cell lymphoma tumor	18367492	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	21858162	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:531 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51443400-51476000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:51462000-51476400	Weak transcription	Gastric	stomach
3	chr12:51467400-51476200	Weak transcription	Colonic Mucosa	Colon
4	chr12:51468000-51476000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:51468000-51476400	Weak transcription	Esophagus	oesophagus
6	chr12:51468200-51476000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:51468400-51476000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:51470400-51476000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:51470400-51476400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:51470400-51476400	Weak transcription	Lung	lung
11	chr12:51471800-51476400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:51472000-51476000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:51472000-51476000	Weak transcription	Aorta	Aorta
14	chr12:51472000-51476200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:51472000-51476400	Weak transcription	Left Ventricle	heart
16	chr12:51474600-51476000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr12:51475200-51476000	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr12:51475200-51476200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:51475200-51476200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr12:51475200-51476200	Flanking Active TSS	Fetal Brain Female	brain
21	chr12:51475200-51476400	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr12:51475200-51476800	Flanking Active TSS	Dnd41	blood
23	chr12:51475400-51476000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:51475400-51476000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr12:51475400-51476000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:51475400-51476000	Enhancers	A549	lung
27	chr12:51475400-51476000	Enhancers	HepG2	liver
28	chr12:51475400-51476200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:51475400-51476200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:51475400-51476200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:51475400-51476400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr12:51475400-51476400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:51475400-51476400	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr12:51475400-51476600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr12:51475400-51476600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:51475400-51476800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:51475400-51477600	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr12:51475600-51476000	Enhancers	Primary T cells from cord blood	blood
39	chr12:51475600-51476000	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr12:51475600-51476000	Active TSS	Brain Angular Gyrus	brain
41	chr12:51475600-51476000	Flanking Active TSS	Fetal Brain Male	brain
42	chr12:51475600-51476200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr12:51475600-51476200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:51475600-51476200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:51475600-51476200	Enhancers	Primary hematopoietic stem cells	blood
46	chr12:51475600-51476200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:51475600-51476200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr12:51475600-51476200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:51475600-51476200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr12:51475600-51476200	Enhancers	Brain Substantia Nigra	brain

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