Variant report

Variant	rs775625
Chromosome Location	chr12:67664130-67664131
allele	A/C
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	TBL1XR1	chr12:67663842-67664623	K562	blood:	n/a	n/a
2	MAZ	chr12:67662014-67664309	K562	blood:	n/a	chr12:67663308-67663317 chr12:67664044-67664053 chr12:67663322-67663332
3	USF2	chr12:67664046-67664285	Hela-S3	cervix:	n/a	n/a
4	MAX	chr12:67662131-67664151	Hela-S3	cervix:	n/a	chr12:67663308-67663317 chr12:67664044-67664053 chr12:67663322-67663332
5	MXI1	chr12:67662107-67664140	HepG2	liver:	n/a	n/a
6	MAZ	chr12:67661971-67664386	IMR90	lung:	n/a	chr12:67663308-67663317 chr12:67664044-67664053 chr12:67663322-67663332
7	POLR2A	chr12:67661998-67664220	HEK293	kidney:	n/a	n/a
8	NFIC	chr12:67663540-67664413	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:67662023-67664422	HepG2	liver:	n/a	n/a
10	RUNX3	chr12:67662120-67664332	GM12878	blood:	n/a	chr12:67662660-67662677 chr12:67662668-67662677 chr12:67662662-67662677 chr12:67662668-67662677
11	STAT3	chr12:67664087-67664379	GM12878	blood:	n/a	n/a
12	TCF7L2	chr12:67662524-67664343	HCT-116	colon:	n/a	n/a
13	MAX	chr12:67662136-67664330	NB4	blood:	n/a	chr12:67663308-67663317 chr12:67664044-67664053 chr12:67663322-67663332
14	POLR2A	chr12:67661686-67664424	MCF10A-Er-Src	breast:	n/a	n/a
15	E2F6	chr12:67664071-67664286	K562	blood:	n/a	chr12:67664188-67664195 chr12:67664187-67664196 chr12:67664187-67664199 chr12:67664188-67664195 chr12:67664188-67664195 chr12:67664187-67664195
16	POLR2A	chr12:67661896-67664360	Raji	blood:	n/a	n/a
17	POLR2A	chr12:67661918-67664314	SK-N-MC	brain:	n/a	n/a
18	HA-E2F1	chr12:67662149-67664508	MCF-7	breast:	n/a	chr12:67664188-67664195 chr12:67664187-67664196 chr12:67664187-67664199 chr12:67664188-67664195 chr12:67663607-67663617 chr12:67664188-67664195 chr12:67662620-67662629 chr12:67663228-67663237 chr12:67663099-67663109 chr12:67663104-67663113
19	POLR2A	chr12:67661894-67664494	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F4	chr12:67664095-67664315	GM12878	blood:	n/a	chr12:67664188-67664195 chr12:67664187-67664196 chr12:67664187-67664199 chr12:67664188-67664195 chr12:67664188-67664195 chr12:67664187-67664195
21	MTA3	chr12:67661802-67664336	GM12878	blood:	n/a	n/a
22	POLR2A	chr12:67661876-67664363	K562	blood:	n/a	n/a
23	POLR2A	chr12:67662070-67664181	GM18951	blood:	n/a	n/a
24	SIN3AK20	chr12:67664054-67664446	H1-hESC	embryonic stem cell:	n/a	n/a
25	ARID3A	chr12:67664013-67664397	HepG2	liver:	n/a	chr12:67664187-67664195
26	RCOR1	chr12:67662091-67664442	K562	blood:	n/a	n/a
27	POLR2A	chr12:67661833-67664446	GM18505	blood:	n/a	n/a
28	PML	chr12:67661944-67664146	GM12878	blood:	n/a	n/a
29	RCOR1	chr12:67663993-67664335	K562	blood:	n/a	n/a
30	CHD2	chr12:67662191-67664318	H1-hESC	embryonic stem cell:	n/a	chr12:67662928-67662937 chr12:67663750-67663760
31	POLR2A	chr12:67662072-67664401	GM12878	blood:	n/a	n/a
32	SPI1	chr12:67663935-67664487	HL-60	blood:	n/a	chr12:67664209-67664218
33	POLR2A	chr12:67661899-67664427	GM12892	blood:	n/a	n/a
34	TCF7L2	chr12:67662486-67664406	PANC-1	pancreas:	n/a	n/a
35	MAX	chr12:67662088-67664302	MCF-7	breast:	n/a	chr12:67663308-67663317 chr12:67664044-67664053 chr12:67663322-67663332
36	POLR2A	chr12:67661854-67664487	K562	blood:	n/a	n/a
37	YY1	chr12:67662144-67664187	GM12878	blood:	n/a	chr12:67663101-67663112 chr12:67663493-67663505 chr12:67663489-67663506 chr12:67664146-67664157 chr12:67663101-67663110 chr12:67663228-67663237 chr12:67663104-67663113
38	POLR2A	chr12:67662049-67664356	GM19193	blood:	n/a	n/a
39	MAZ	chr12:67662120-67664173	Hela-S3	cervix:	n/a	chr12:67663308-67663317 chr12:67664044-67664053 chr12:67663322-67663332
40	TCF12	chr12:67662027-67664512	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr12:67662048-67664271	IMR90	lung:	n/a	n/a
42	TCF12	chr12:67662083-67664363	A549	lung:	n/a	n/a
43	CHD2	chr12:67662201-67664192	K562	blood:	n/a	chr12:67662928-67662937 chr12:67663750-67663760
44	POLR2A	chr12:67662083-67664181	GM15510	blood:	n/a	n/a
45	TAF1	chr12:67662039-67664342	ECC-1	luminal epithelium:	n/a	n/a
46	ZNF263	chr12:67662107-67664412	HEK293-T-REx	kidney:	n/a	n/a
47	POLR2A	chr12:67662074-67664280	GM12892	blood:	n/a	n/a
48	SPI1	chr12:67664111-67664276	K562	blood:	n/a	chr12:67664209-67664218
49	SMARCB1	chr12:67662281-67664220	Hela-S3	cervix:	n/a	n/a
50	ZBTB7A	chr12:67662578-67664250	ECC-1	luminal epithelium:	n/a	chr12:67663817-67663826

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67462768..67464522-chr12:67660868..67664362,4	MCF-7	breast:
2	chr12:67460777..67464522-chr12:67661841..67665703,9	MCF-7	breast:

Variant related genes	Relation type
GGTA2P	TF binding region
ENSG00000256248	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1066392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1066397	1.00[AMR][1000 genomes]
rs1082703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082707	1.00[AFR][1000 genomes]
rs1082712	1.00[AFR][1000 genomes]
rs1082719	1.00[AFR][1000 genomes]
rs1143757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1143946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1143955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1152891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1152899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1152903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1186260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252411	1.00[AMR][1000 genomes]
rs1252420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252433	1.00[AFR][1000 genomes]
rs1392588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1392589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1658782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1697249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1732541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs710621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs710799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74099404	1.00[AMR][1000 genomes]
rs775311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775640	1.00[AMR][1000 genomes]
rs775642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs812882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs812883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67661600-67665000	Active TSS	K562	blood
2	chr12:67661600-67665200	Active TSS	GM12878-XiMat	blood
3	chr12:67661800-67664600	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr12:67661800-67664600	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr12:67661800-67664800	Active TSS	Aorta	Aorta
6	chr12:67661800-67664800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr12:67661800-67664800	Active TSS	Stomach Mucosa	stomach
8	chr12:67661800-67665000	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr12:67661800-67665000	Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr12:67661800-67665000	Active TSS	Brain Angular Gyrus	brain
11	chr12:67661800-67665000	Active TSS	Fetal Kidney	kidney
12	chr12:67661800-67665000	Active TSS	Right Atrium	heart
13	chr12:67661800-67665000	Active TSS	Thymus	Thymus
14	chr12:67661800-67665000	Active TSS	A549	lung
15	chr12:67661800-67665000	Active TSS	HSMM	muscle
16	chr12:67661800-67665200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:67661800-67665200	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr12:67661800-67665200	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr12:67661800-67665200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:67661800-67665200	Active TSS	Psoas Muscle	Psoas
21	chr12:67661800-67665400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr12:67661800-67665400	Active TSS	H1 Cell Line	embryonic stem cell
23	chr12:67661800-67665400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:67661800-67665600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:67661800-67666000	Active TSS	NHLF	lung
26	chr12:67662000-67664200	Active TSS	Brain Cingulate Gyrus	brain
27	chr12:67662000-67664200	Active TSS	Brain Hippocampus Middle	brain
28	chr12:67662000-67664200	Active TSS	Brain Substantia Nigra	brain
29	chr12:67662000-67664400	Active TSS	Left Ventricle	heart
30	chr12:67662000-67664400	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr12:67662000-67664400	Active TSS	Small Intestine	intestine
32	chr12:67662000-67664600	Active TSS	Fetal Muscle Trunk	muscle
33	chr12:67662000-67664800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr12:67662000-67664800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:67662000-67665000	Active TSS	H9 Cell Line	embryonic stem cell
36	chr12:67662000-67665200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:67662000-67665200	Active TSS	Ovary	ovary
38	chr12:67662000-67665200	Active TSS	Right Ventricle	heart
39	chr12:67662000-67665400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:67662000-67665600	Active TSS	NHDF-Ad	bronchial
41	chr12:67662200-67664200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:67662200-67664400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:67662200-67664400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:67662200-67664400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:67662200-67664400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:67662200-67664400	Active TSS	Esophagus	oesophagus
47	chr12:67662200-67664400	Active TSS	Gastric	stomach
48	chr12:67662200-67664400	Active TSS	Pancreas	Pancrea
49	chr12:67662200-67664400	Active TSS	Placenta Amnion	Placenta Amnion
50	chr12:67662200-67664400	Active TSS	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links