Variant report

Variant	rs7959194
Chromosome Location	chr12:121575987-121575988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121568948..121571142-chr12:121574770..121577289,2	MCF-7	breast:
2	chr12:121575022..121577625-chr12:121581601..121583531,2	MCF-7	breast:
3	chr12:121570400..121573469-chr12:121573505..121577665,4	K562	blood:

Variant related genes	Relation type
ENSG00000089041	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10492051	1.00[MEX][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1180008	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17433716	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17434682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17434731	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17434809	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17512249	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17525767	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17526121	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1796415	0.84[CEU][hapmap];0.82[MEX][hapmap]
rs1963773	1.00[CEU][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs208291	0.85[CEU][hapmap];0.99[EUR][1000 genomes]
rs28360439	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28969463	0.95[EUR][1000 genomes]
rs3850517	0.81[AMR][1000 genomes]
rs41416850	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4445718	0.81[AMR][1000 genomes]
rs55728984	0.84[AMR][1000 genomes]
rs55814439	0.97[EUR][1000 genomes]
rs55817936	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56017922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs560422	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56156773	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56159890	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6489794	0.95[TSI][hapmap]
rs7312738	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73214189	0.80[AMR][1000 genomes]
rs73214193	0.81[AMR][1000 genomes]
rs73214200	0.81[AMR][1000 genomes]
rs73216105	0.84[AMR][1000 genomes]
rs73216108	0.84[AMR][1000 genomes]
rs73216109	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73216110	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73216131	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73218207	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73218210	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73218221	0.95[EUR][1000 genomes]
rs7973360	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv430537	chr12:121487632-121579955	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv899563	chr12:121543011-121600529	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121571200-121576400	Weak transcription	Spleen	Spleen
2	chr12:121571400-121582800	Weak transcription	Lung	lung
3	chr12:121571400-121594000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:121571600-121576400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:121571600-121576800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:121571600-121577200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:121571600-121579600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:121571800-121581600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:121571800-121582400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:121571800-121623200	Weak transcription	Colonic Mucosa	Colon
11	chr12:121572000-121582800	Weak transcription	Primary B cells from cord blood	blood
12	chr12:121572200-121582200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr12:121572200-121582400	Weak transcription	NHLF	lung
14	chr12:121572200-121583000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:121572200-121599800	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:121572600-121580000	Weak transcription	Ovary	ovary
17	chr12:121572600-121592600	Weak transcription	Liver	Liver
18	chr12:121572800-121579600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:121572800-121581400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr12:121572800-121581800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:121572800-121601600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr12:121573400-121580000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:121574200-121576600	Enhancers	Brain Cingulate Gyrus	brain
24	chr12:121574600-121577000	Strong transcription	Primary T cells from cord blood	blood
25	chr12:121574800-121576800	Enhancers	Brain Anterior Caudate	brain
26	chr12:121574800-121577200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr12:121575000-121576400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:121575000-121576800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:121575200-121576000	Genic enhancers	Primary monocytes fromperipheralblood	blood
30	chr12:121575400-121576400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:121575400-121576600	Strong transcription	Stomach Smooth Muscle	stomach
32	chr12:121575600-121576200	Genic enhancers	Brain Angular Gyrus	brain
33	chr12:121575600-121576400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:121575600-121577400	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr12:121575600-121577600	Genic enhancers	Brain Hippocampus Middle	brain
36	chr12:121575600-121579000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:121575800-121576200	Genic enhancers	Brain Inferior Temporal Lobe	brain
38	chr12:121575800-121577600	Genic enhancers	Brain Substantia Nigra	brain

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