Variant report

Variant	rs1151836
Chromosome Location	chr12:120700531-120700532
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120684404..120691478-chr12:120697984..120705218,14	MCF-7	breast:
2	chr12:120686832..120689716-chr12:120699360..120703521,4	K562	blood:
3	chr12:120699116..120708865-chr12:120725013..120732311,37	K562	blood:
4	chr12:120697928..120706288-chr12:120725352..120732223,30	K562	blood:
5	chr12:120690051..120707499-chr12:120720410..120732530,91	MCF-7	breast:
6	chr12:120634142..120641127-chr12:120698850..120705439,14	K562	blood:

Variant related genes	Relation type
ENSG00000089159	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000240925	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1151821	0.96[ASN][1000 genomes]
rs1151822	0.93[ASN][1000 genomes]
rs1151823	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1151826	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[ASN][1000 genomes]
rs1151828	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];1.00[ASN][1000 genomes]
rs1151833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1151835	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1166788	1.00[ASN][1000 genomes]
rs1166789	0.95[ASN][1000 genomes]
rs1179386	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12322327	0.95[ASN][1000 genomes]
rs12580333	0.95[ASN][1000 genomes]
rs12580868	0.90[CHB][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap]
rs12582981	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs1632619	1.00[ASN][1000 genomes]
rs1634820	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.95[MKK][hapmap];0.96[ASN][1000 genomes]
rs16950044	0.89[CHB][hapmap]
rs16950047	0.89[CHB][hapmap]
rs2239207	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2283363	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs2701641	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2701642	0.81[AFR][1000 genomes]
rs3847967	0.89[CHB][hapmap]
rs3847968	1.00[CHB][hapmap]
rs58777856	0.95[ASN][1000 genomes]
rs58919380	1.00[ASN][1000 genomes]
rs60134107	1.00[ASN][1000 genomes]
rs60282545	0.95[ASN][1000 genomes]
rs61633133	1.00[ASN][1000 genomes]
rs71541558	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 gene(s)	inside rSNPs	diseases
3	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
5	nsv560435	chr12:120695141-120769657	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
6	nsv899556	chr12:120695141-120779931	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
7	nsv560436	chr12:120697470-120705828	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120693200-120700800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr12:120695400-120702000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:120695600-120700800	Weak transcription	Fetal Brain Male	brain
4	chr12:120695800-120700800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:120696200-120701800	Weak transcription	Brain Germinal Matrix	brain
6	chr12:120697400-120702000	Enhancers	Spleen	Spleen
7	chr12:120697600-120700600	Weak transcription	Dnd41	blood
8	chr12:120698400-120701600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:120698600-120700800	Enhancers	Colonic Mucosa	Colon
10	chr12:120698600-120702400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:120698600-120702800	Enhancers	Small Intestine	intestine
12	chr12:120698800-120700800	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr12:120698800-120702600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:120699000-120700600	Enhancers	Right Ventricle	heart
15	chr12:120699200-120700800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:120699200-120700800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr12:120699400-120700600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:120699400-120700800	Enhancers	Esophagus	oesophagus
19	chr12:120699400-120701000	Enhancers	Aorta	Aorta
20	chr12:120699400-120701000	Flanking Active TSS	Hela-S3	cervix
21	chr12:120699400-120701800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:120699400-120702200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr12:120699400-120702600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:120699400-120702800	Transcr. at gene 5' and 3'	NHEK	skin
25	chr12:120699600-120700800	Flanking Active TSS	HSMMtube	muscle
26	chr12:120699600-120701400	Flanking Active TSS	A549	lung
27	chr12:120699600-120701600	Enhancers	Ovary	ovary
28	chr12:120699600-120701800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:120699600-120702000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:120699600-120702000	Enhancers	Fetal Lung	lung
31	chr12:120699600-120702000	Enhancers	Fetal Thymus	thymus
32	chr12:120699600-120702000	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr12:120699600-120702200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr12:120699600-120702400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr12:120699600-120702400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:120699600-120702400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr12:120699600-120702400	Enhancers	Stomach Mucosa	stomach
38	chr12:120699600-120702400	Flanking Active TSS	HepG2	liver
39	chr12:120699600-120702800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:120699600-120702800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr12:120699600-120703000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:120699600-120703000	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr12:120699600-120703000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr12:120699600-120703200	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr12:120699600-120703600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:120699800-120700600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:120699800-120701000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:120699800-120701000	Genic enhancers	Fetal Stomach	stomach
49	chr12:120699800-120701200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr12:120699800-120701200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell

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