Variant report

Variant	rs7093159
Chromosome Location	chr10:52367796-52367797
allele	A/G
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	TCF7L2	chr10:52367592-52367830	Hela-S3	cervix:	n/a	chr10:52367719-52367733 chr10:52367722-52367731 chr10:52367721-52367730 chr10:52367718-52367734 chr10:52367718-52367734
2	MYC	chr10:52367532-52367809	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:52366580..52370875-chr10:52371309..52374318,4	K562	blood:
2	chr10:52367499..52369355-chr10:52371590..52373670,2	MCF-7	breast:
3	chr10:52367316..52369194-chr10:52370537..52372396,2	MCF-7	breast:
4	chr10:52367696..52369348-chr10:52383415..52385281,2	MCF-7	breast:
5	chr10:52365691..52371767-chr10:52381261..52385919,7	K562	blood:
6	chr10:52363969..52366872-chr10:52366929..52369870,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230036	TF binding region
ENSG00000230036	Chromatin interaction
ENSG00000198964	Chromatin interaction
ENSG00000226200	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12241969	1.00[EUR][1000 genomes]
rs12267258	1.00[EUR][1000 genomes]
rs12571898	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12572578	0.85[CHB][hapmap];1.00[EUR][1000 genomes]
rs16906575	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16907261	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4615973	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55703887	1.00[EUR][1000 genomes]
rs55928478	1.00[EUR][1000 genomes]
rs56039956	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57040666	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57073115	1.00[EUR][1000 genomes]
rs57238750	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs57253864	1.00[EUR][1000 genomes]
rs57574235	1.00[EUR][1000 genomes]
rs57871603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60613759	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60974974	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61027189	1.00[EUR][1000 genomes]
rs61518314	1.00[EUR][1000 genomes]
rs61615406	1.00[EUR][1000 genomes]
rs7080895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7083978	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73318780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73320893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73320899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74131448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7908759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv469522	chr10:52276564-52447589	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv482564	chr10:52276564-52447589	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52341200-52373000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr10:52358800-52367800	Enhancers	Brain Hippocampus Middle	brain
3	chr10:52359400-52369200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr10:52360200-52375600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr10:52361600-52369000	Enhancers	Brain Anterior Caudate	brain
6	chr10:52362000-52368400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr10:52362000-52368400	Enhancers	Brain Substantia Nigra	brain
8	chr10:52362200-52372400	Weak transcription	Esophagus	oesophagus
9	chr10:52362600-52368800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr10:52362800-52368000	Enhancers	HepG2	liver
11	chr10:52363000-52368000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr10:52363200-52368000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr10:52363200-52368000	Enhancers	Stomach Mucosa	stomach
14	chr10:52363200-52371600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr10:52363200-52372000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr10:52363400-52368000	Enhancers	Colon Smooth Muscle	Colon
17	chr10:52363800-52367800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr10:52364000-52369800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:52364200-52368400	Enhancers	Duodenum Mucosa	Duodenum
20	chr10:52364200-52370000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr10:52364400-52372000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr10:52364400-52374400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr10:52365000-52368800	Enhancers	Fetal Heart	heart
24	chr10:52365000-52368800	Weak transcription	Thymus	Thymus
25	chr10:52365000-52369800	Weak transcription	Gastric	stomach
26	chr10:52365000-52369800	Weak transcription	Right Atrium	heart
27	chr10:52365000-52371000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr10:52365200-52368200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr10:52365200-52368200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr10:52365200-52369600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr10:52365200-52374000	Weak transcription	Placenta	Placenta
32	chr10:52365400-52368200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr10:52365400-52368200	Weak transcription	Fetal Muscle Leg	muscle
34	chr10:52365400-52369000	Enhancers	Liver	Liver
35	chr10:52365400-52370200	Weak transcription	Fetal Thymus	thymus
36	chr10:52365400-52370200	Weak transcription	Spleen	Spleen
37	chr10:52365400-52370800	Weak transcription	Lung	lung
38	chr10:52365400-52371200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr10:52365400-52371200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr10:52365400-52371400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr10:52365400-52375000	Weak transcription	Fetal Brain Female	brain
42	chr10:52365400-52379400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr10:52365600-52368200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr10:52365600-52370600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr10:52365600-52372000	Weak transcription	Fetal Kidney	kidney
46	chr10:52365600-52377200	Weak transcription	Primary T cells from cord blood	blood
47	chr10:52365800-52372400	Weak transcription	Fetal Intestine Small	intestine
48	chr10:52365800-52378200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr10:52366000-52373000	Weak transcription	Fetal Intestine Large	intestine
50	chr10:52366000-52381600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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