Variant report

Variant	rs7959471
Chromosome Location	chr12:65059895-65059896
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:65057089..65059897-chr12:65066585..65070276,3	K562	blood:
2	chr12:65048771..65052782-chr12:65056802..65060601,5	MCF-7	breast:
3	chr12:65056764..65058467-chr12:65059357..65061910,2	K562	blood:
4	chr12:65052809..65057166-chr12:65058772..65061911,4	MCF-7	breast:
5	chr12:65057089..65063734-chr12:65063788..65069344,8	K562	blood:

Variant related genes	Relation type
ENSG00000256314	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1008159	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1008160	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11175470	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11175471	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11175476	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11175478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11175481	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11175497	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11175509	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837759	0.81[CEU][hapmap]
rs12230536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12814316	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12816847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12824246	0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12829878	0.82[CEU][hapmap]
rs12830436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12831875	0.82[CEU][hapmap]
rs12833931	0.85[EUR][1000 genomes]
rs17223244	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17223377	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17223391	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17823442	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs2078398	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35512928	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35674528	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35705715	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35860561	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7303641	0.81[EUR][1000 genomes]
rs7304648	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65047800-65063000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:65048000-65060400	Weak transcription	Dnd41	blood
3	chr12:65048000-65063000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:65048400-65062200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:65048800-65060200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr12:65049200-65062200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:65051600-65060600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:65054800-65060400	Weak transcription	Aorta	Aorta
9	chr12:65054800-65061400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:65055000-65060400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:65055200-65060400	Weak transcription	Spleen	Spleen
12	chr12:65055400-65060400	Weak transcription	Right Ventricle	heart
13	chr12:65056200-65062200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr12:65056400-65060400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:65056400-65061800	Enhancers	Hela-S3	cervix
16	chr12:65056600-65060400	Weak transcription	Esophagus	oesophagus
17	chr12:65056800-65061400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:65057200-65063000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:65057800-65063200	Enhancers	Primary B cells from peripheral blood	blood
20	chr12:65058200-65062000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:65058200-65062600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:65058200-65062600	Enhancers	Psoas Muscle	Psoas
23	chr12:65058200-65064400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:65058400-65063000	Enhancers	Primary B cells from cord blood	blood
25	chr12:65058400-65069600	Enhancers	Small Intestine	intestine
26	chr12:65058600-65061800	Enhancers	Ovary	ovary
27	chr12:65058800-65060200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:65058800-65060600	Enhancers	Fetal Kidney	kidney
29	chr12:65058800-65060800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr12:65058800-65061000	Enhancers	Liver	Liver
31	chr12:65058800-65061000	Flanking Active TSS	GM12878-XiMat	blood
32	chr12:65058800-65062200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr12:65058800-65062200	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr12:65058800-65062400	Enhancers	Right Atrium	heart
35	chr12:65058800-65063000	Enhancers	HepG2	liver
36	chr12:65058800-65063200	Enhancers	K562	blood
37	chr12:65058800-65066600	Enhancers	Stomach Mucosa	stomach
38	chr12:65058800-65070000	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr12:65059000-65061800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr12:65059000-65063000	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr12:65059000-65063000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:65059000-65065800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr12:65059200-65060200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr12:65059200-65060800	Enhancers	HSMMtube	muscle
45	chr12:65059200-65061000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:65059200-65061400	Enhancers	Fetal Intestine Small	intestine
47	chr12:65059200-65061800	Enhancers	Colon Smooth Muscle	Colon
48	chr12:65059200-65062600	Enhancers	Left Ventricle	heart
49	chr12:65059200-65062600	Enhancers	Lung	lung
50	chr12:65059200-65063000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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