Variant report

Variant	esv3371967
Chromosome Location	chr12:31741685-31745983
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	chr12:31744661-31744691	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:31742573-31743252	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:31743401-31743530	K562	blood:	n/a	n/a
4	ATF1	chr12:31743345-31743636	K562	blood:	n/a	n/a
5	ATF1	chr12:31744447-31744647	K562	blood:	n/a	n/a
6	ATF1	chr12:31742666-31742971	K562	blood:	n/a	n/a
7	ATF2	chr12:31744189-31744801	GM12878	blood:	n/a	n/a
8	ATF2	chr12:31742352-31742873	GM12878	blood:	n/a	n/a
9	ATF3	chr12:31743379-31743631	K562	blood:	n/a	chr12:31743593-31743602
10	ATF3	chr12:31743094-31743344	HepG2	liver:	n/a	chr12:31743300-31743309 chr12:31743111-31743120
11	ATF3	chr12:31743094-31743329	K562	blood:	n/a	chr12:31743300-31743309 chr12:31743111-31743120
12	BACH1	chr12:31743002-31743307	H1-hESC	embryonic stem cell:	n/a	n/a
13	BCL3	chr12:31744072-31744796	A549	lung:	n/a	chr12:31744265-31744278
14	BCLAF1	chr12:31742479-31743737	GM12878	blood:	n/a	chr12:31743162-31743175 chr12:31743617-31743630 chr12:31743242-31743255 chr12:31743078-31743091 chr12:31742784-31742797 chr12:31743616-31743625
15	BCLAF1	chr12:31744256-31744877	GM12878	blood:	n/a	chr12:31744265-31744278
16	BHLHE40	chr12:31743956-31744258	GM12878	blood:	n/a	chr12:31744029-31744045
17	BHLHE40	chr12:31742707-31743593	GM12878	blood:	n/a	chr12:31743218-31743231 chr12:31743220-31743229 chr12:31743219-31743228 chr12:31743220-31743229
18	BHLHE40	chr12:31742555-31744782	HepG2	liver:	n/a	chr12:31743218-31743231 chr12:31743220-31743229 chr12:31743219-31743228 chr12:31743220-31743229 chr12:31744029-31744045
19	BHLHE40	chr12:31742679-31743687	K562	blood:	n/a	chr12:31743218-31743231 chr12:31743220-31743229 chr12:31743219-31743228 chr12:31743220-31743229
20	BHLHE40	chr12:31744028-31744155	K562	blood:	n/a	chr12:31744029-31744045
21	BHLHE40	chr12:31743014-31743621	A549	lung:	n/a	chr12:31743218-31743231 chr12:31743220-31743229 chr12:31743219-31743228 chr12:31743220-31743229
22	BRCA1	chr12:31743911-31744094	HepG2	liver:	n/a	n/a
23	BRCA1	chr12:31743983-31744080	GM12878	blood:	n/a	n/a
24	BRCA1	chr12:31742708-31743103	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr12:31742584-31743212	HepG2	liver:	n/a	n/a
26	BRCA1	chr12:31744321-31744442	HepG2	liver:	n/a	n/a
27	CCNT2	chr12:31742878-31744401	K562	blood:	n/a	chr12:31744156-31744165
28	CEBPB	chr12:31742164-31743126	Hela-S3	cervix:	n/a	chr12:31742272-31742283
29	CEBPB	chr12:31743003-31743041	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr12:31743920-31743953	Hela-S3	cervix:	n/a	n/a
31	CEBPD	chr12:31743823-31744195	HepG2	liver:	n/a	n/a
32	CEBPD	chr12:31742711-31743255	HepG2	liver:	n/a	n/a
33	CHD1	chr12:31742929-31743758	H1-hESC	embryonic stem cell:	n/a	chr12:31743165-31743175
34	CHD1	chr12:31743199-31743215	GM12878	blood:	n/a	n/a
35	CHD1	chr12:31743874-31743925	GM12878	blood:	n/a	n/a
36	CHD2	chr12:31743820-31744189	GM12878	blood:	n/a	n/a
37	CHD2	chr12:31742689-31743042	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr12:31742726-31742839	K562	blood:	n/a	n/a
39	CHD2	chr12:31743873-31744683	K562	blood:	n/a	n/a
40	CHD2	chr12:31742748-31743543	HepG2	liver:	n/a	chr12:31743165-31743175
41	CHD2	chr12:31742588-31744661	Hela-S3	cervix:	n/a	chr12:31743165-31743175
42	CHD2	chr12:31743849-31744542	HepG2	liver:	n/a	n/a
43	CREB1	chr12:31742591-31743102	H1-hESC	embryonic stem cell:	n/a	n/a
44	CREB1	chr12:31742576-31743752	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr12:31743274-31743810	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr12:31742669-31744279	A549	lung:	n/a	n/a
47	CREB1	chr12:31742487-31743280	HepG2	liver:	n/a	n/a
48	CREB1	chr12:31742538-31744807	HepG2	liver:	n/a	n/a
49	CREB1	chr12:31743784-31744935	GM12878	blood:	n/a	n/a
50	CREB1	chr12:31742467-31743757	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:31742979-31743029	AG04449	skin:	fetal
2	chr12:31744695-31744745	GM19239	blood:	n/a
3	chr12:31744310-31744360	K562	blood:	n/a
4	chr12:31743449-31743499	PrEC	prostate:	n/a
5	chr12:31742801-31742851	U87	brain:	n/a
6	chr12:31744129-31744179	ECC-1	luminal epithelium:	n/a
7	chr12:31742801-31742851	HRPEpiC	eye:	n/a
8	chr12:31744310-31744360	ovcar-3	ovarian:	n/a
9	chr12:31744436-31744486	HCT-116	colon:	n/a
10	chr12:31743449-31743499	H1-hESC	embryonic stem cell:	embryo
11	chr12:31744436-31744486	HepG2	liver:	n/a
12	chr12:31743367-31743417	HEK293	kidney:	embryo
13	chr12:31742801-31742851	MCF-7	breast:	n/a
14	chr12:31744129-31744179	GM12892	blood:	n/a
15	chr12:31743449-31743499	IMR90	lung:	fetal
16	chr12:31743857-31743907	ECC-1	luminal epithelium:	n/a
17	chr12:31744043-31744093	GM06990	blood:	n/a
18	chr12:31743367-31743417	SKMC	muscle:	n/a
19	chr12:31743857-31743907	PANC-1	pancreas:	n/a
20	chr12:31743882-31743932	BJ	skin:	n/a
21	chr12:31744695-31744745	H1-hESC	embryonic stem cell:	embryo
22	chr12:31743882-31743932	GM12878	blood:	n/a
23	chr12:31743882-31743932	AG09319	gingival:	n/a
24	chr12:31744436-31744486	NH-A	brain:	n/a
25	chr12:31744129-31744179	PrEC	prostate:	n/a
26	chr12:31743857-31743907	AG04449	skin:	fetal
27	chr12:31744129-31744179	AG10803	skin:	n/a
28	chr12:31744695-31744745	BE2_C	brain:	n/a
29	chr12:31743857-31743907	LNCaP	prostate:	n/a
30	chr12:31743857-31743907	Caco-2	colon:	n/a
31	chr12:31744129-31744179	A549	lung:	n/a
32	chr12:31744310-31744360	HIPEpiC	eye:	n/a
33	chr12:31743882-31743932	NT2-D1	testis:	n/a
34	chr12:31744043-31744093	U87	brain:	n/a
35	chr12:31744436-31744486	AG09309	skin:	n/a
36	chr12:31744436-31744486	HEK293	kidney:	embryo
37	chr12:31742648-31742698	GM12891	blood:	n/a
38	chr12:31743367-31743417	AG10803	skin:	n/a
39	chr12:31744695-31744745	Hela-S3	cervix:	n/a
40	chr12:31743449-31743499	HUVEC	blood vessel:	n/a
41	chr12:31744129-31744179	ProgFib	skin:	n/a
42	chr12:31744043-31744093	HCT-116	colon:	n/a
43	chr12:31742979-31743029	NHBE	bronchial:	n/a
44	chr12:31742648-31742698	NHDF-neo	bronchial:	n/a
45	chr12:31743857-31743907	SK-N-SH_RA	brain:	n/a
46	chr12:31744129-31744179	NHDF-neo	bronchial:	n/a
47	chr12:31744695-31744745	HCF	heart:	n/a
48	chr12:31744436-31744486	AG04450	lung:	fetal
49	chr12:31744436-31744486	SAEC	small airway:	n/a
50	chr12:31743882-31743932	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr12:31477472..31480749-chr12:31741860..31744200,4	MCF-7	breast:
2	chr12:31743215..31744081-chr19:1875675..1876438,2	Hela-S3	cervix:
3	chr12:31739424..31741927-chr12:31747863..31749994,2	K562	blood:
4	chr12:31740792..31743101-chr12:31745770..31747885,3	MCF-7	breast:
5	chr12:31740065..31741913-chr12:31741979..31745084,3	K562	blood:
6	chr12:31741307..31745552-chr12:31748528..31751513,3	MCF-7	breast:
7	chr12:31645308..31649621-chr12:31742506..31745309,6	MCF-7	breast:
8	chr12:31740792..31743101-chr12:31745770..31747885,3	MCF-7	breast:
9	chr12:31477521..31479099-chr12:31743621..31745412,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-METTL20-1	chr12:31744246-31744674	ENSG00000255867.1
2	lnc-METTL20-1	chr12:31742857-31743053	ENSG00000255867.1

Variant related genes	Relation type
DENND5B-AS1	TF binding region
DENND5B	TF binding region
DENND5B-AS1	CpG island
DENND5B	CpG island
ENSG00000170456	chromatin interactions
ENSG00000139146	chromatin interactions
ENSG00000231788	chromatin interactions
ENSG00000261526	chromatin interactions
ENSG00000252390	chromatin interactions
ENSG00000255867	chromatin interactions

Extended variants
information (count: 147 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3898368	chr12:31741686-31741687	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532728559	chr12:31741701-31741702	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs546180874	chr12:31741745-31741746	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs142402904	chr12:31741746-31741747	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs76357332	chr12:31741863-31741864	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs549898867	chr12:31741880-31741881	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs555736778	chr12:31741882-31741883	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs571829114	chr12:31741895-31741896	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs146451516	chr12:31741902-31741903	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs188248766	chr12:31741913-31741914	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs568922269	chr12:31741942-31741943	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs550427381	chr12:31742070-31742071	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs192060903	chr12:31742250-31742251	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs146579445	chr12:31742307-31742308	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs571676250	chr12:31742342-31742343	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs534232696	chr12:31742396-31742397	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs77747251	chr12:31742411-31742412	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs143811270	chr12:31742423-31742424	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs367864264	chr12:31742424-31742425	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs1259421	chr12:31742463-31742464	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542720513	chr12:31742531-31742532	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs182794595	chr12:31742533-31742534	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs533687667	chr12:31742577-31742578	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs556741902	chr12:31742599-31742600	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs542208897	chr12:31742676-31742677	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs576517152	chr12:31742705-31742706	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs555334463	chr12:31742716-31742717	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs187117203	chr12:31742735-31742736	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs565938538	chr12:31742769-31742770	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs141259287	chr12:31742795-31742796	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs372434216	chr12:31742801-31742802	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs527973044	chr12:31742838-31742839	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs539868390	chr12:31742883-31742884	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
34	rs191597813	chr12:31742915-31742916	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
35	rs150656458	chr12:31742919-31742920	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
36	rs528997398	chr12:31742948-31742949	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
37	rs562455949	chr12:31742969-31742970	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
38	rs183607711	chr12:31742970-31742971	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
39	rs149356460	chr12:31743024-31743025	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
40	rs190672721	chr12:31743060-31743061	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs531492510	chr12:31743177-31743178	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs1259422	chr12:31743194-31743195	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs571595223	chr12:31743210-31743211	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs375045171	chr12:31743260-31743261	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs534065615	chr12:31743265-31743266	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs547828257	chr12:31743267-31743268	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs567525710	chr12:31743275-31743276	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs1269139	chr12:31743301-31743302	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs1259423	chr12:31743344-31743345	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs12825651	chr12:31743365-31743366	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:514 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31721600-31742400	Weak transcription	Aorta	Aorta
2	chr12:31726400-31742000	Weak transcription	Fetal Intestine Large	intestine
3	chr12:31728400-31741800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:31737800-31741800	Flanking Active TSS	GM12878-XiMat	blood
5	chr12:31738400-31742400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:31738400-31742600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:31738400-31742600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:31738400-31742600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:31738400-31742600	Weak transcription	Lung	lung
10	chr12:31738600-31741800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:31738600-31741800	Weak transcription	NHDF-Ad	bronchial
12	chr12:31738600-31742200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:31738600-31742400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:31738600-31742400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:31738600-31742600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:31738800-31741800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:31738800-31741800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:31738800-31741800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:31738800-31741800	Weak transcription	NHLF	lung
20	chr12:31738800-31742000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:31738800-31742600	Weak transcription	Small Intestine	intestine
22	chr12:31739000-31742000	Weak transcription	HSMM	muscle
23	chr12:31739000-31742000	Weak transcription	NHEK	skin
24	chr12:31739000-31742400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:31739400-31742000	Weak transcription	Fetal Stomach	stomach
26	chr12:31739400-31742400	Enhancers	Stomach Mucosa	stomach
27	chr12:31739800-31742000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:31739800-31742000	Weak transcription	Fetal Intestine Small	intestine
29	chr12:31740000-31742600	Weak transcription	Gastric	stomach
30	chr12:31740200-31741800	Enhancers	Primary B cells from cord blood	blood
31	chr12:31740200-31742200	Enhancers	Primary B cells from peripheral blood	blood
32	chr12:31740600-31741800	Enhancers	HepG2	liver
33	chr12:31740800-31742000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr12:31741000-31741800	Enhancers	Psoas Muscle	Psoas
35	chr12:31741000-31742000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr12:31741000-31742000	Enhancers	Liver	Liver
37	chr12:31741000-31742000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:31741000-31742000	Enhancers	Colon Smooth Muscle	Colon
39	chr12:31741000-31742000	Enhancers	Fetal Heart	heart
40	chr12:31741000-31742000	Enhancers	Right Ventricle	heart
41	chr12:31741000-31742000	Enhancers	NH-A	brain
42	chr12:31741000-31742200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr12:31741000-31742200	Enhancers	Fetal Brain Male	brain
44	chr12:31741000-31742400	Enhancers	Brain Substantia Nigra	brain
45	chr12:31741200-31741800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:31741200-31742000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:31741200-31742600	Weak transcription	Pancreas	Pancrea
48	chr12:31741400-31741800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr12:31741400-31741800	Active TSS	Fetal Brain Female	brain
50	chr12:31741400-31741800	Enhancers	Rectal Smooth Muscle	rectum

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