Variant report

Variant	rs4615973
Chromosome Location	chr10:52371301-52371302
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:52359176..52362800-chr10:52370214..52372763,3	K562	blood:
2	chr10:52359953..52362709-chr10:52369369..52373300,4	MCF-7	breast:
3	chr10:52371171..52374113-chr10:52380759..52382982,2	MCF-7	breast:
4	chr10:52316576..52318310-chr10:52369103..52371692,2	K562	blood:
5	chr10:52359176..52361319-chr10:52370214..52372763,2	K562	blood:
6	chr10:52365691..52371767-chr10:52381261..52385919,7	K562	blood:
7	chr10:52367316..52369194-chr10:52370537..52372396,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198964	Chromatin interaction
ENSG00000226200	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10508930	0.82[GIH][hapmap]
rs12241969	1.00[EUR][1000 genomes]
rs12267258	1.00[EUR][1000 genomes]
rs12571898	0.95[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	0.80[CHB][hapmap];1.00[EUR][1000 genomes]
rs16906575	1.00[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16907261	0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[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];0.96[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];0.90[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];0.99[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];0.99[ASN][1000 genomes]
rs7083978	0.95[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];0.96[ASN][1000 genomes]
rs7093159	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]
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];0.95[ASN][1000 genomes]
rs7908759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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:81 , 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	chr10:52360200-52375600	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr10:52362200-52372400	Weak transcription	Esophagus	oesophagus
4	chr10:52363200-52371600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr10:52363200-52372000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr10:52364400-52372000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr10:52364400-52374400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr10:52365200-52374000	Weak transcription	Placenta	Placenta
9	chr10:52365400-52371400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr10:52365400-52375000	Weak transcription	Fetal Brain Female	brain
11	chr10:52365400-52379400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr10:52365600-52372000	Weak transcription	Fetal Kidney	kidney
13	chr10:52365600-52377200	Weak transcription	Primary T cells from cord blood	blood
14	chr10:52365800-52372400	Weak transcription	Fetal Intestine Small	intestine
15	chr10:52365800-52378200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr10:52366000-52373000	Weak transcription	Fetal Intestine Large	intestine
17	chr10:52366000-52381600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr10:52366600-52372600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr10:52366600-52377800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr10:52367200-52377800	Weak transcription	Primary B cells from cord blood	blood
21	chr10:52367200-52379400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr10:52367400-52381400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr10:52367600-52371600	Weak transcription	Fetal Brain Male	brain
24	chr10:52367600-52372000	Weak transcription	GM12878-XiMat	blood
25	chr10:52367600-52372800	Weak transcription	NHDF-Ad	bronchial
26	chr10:52367600-52378400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr10:52367600-52381400	Weak transcription	NHLF	lung
28	chr10:52367600-52381400	Weak transcription	Osteobl	bone
29	chr10:52368000-52372600	Weak transcription	HepG2	liver
30	chr10:52368000-52374200	Weak transcription	Stomach Mucosa	stomach
31	chr10:52368200-52371800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr10:52368200-52373400	Enhancers	Fetal Muscle Leg	muscle
33	chr10:52368200-52375400	Enhancers	Pancreas	Pancrea
34	chr10:52368400-52371800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr10:52368400-52372400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr10:52368800-52371600	Weak transcription	Aorta	Aorta
37	chr10:52368800-52372800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr10:52369000-52378800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr10:52369200-52372600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr10:52369200-52375800	Enhancers	Fetal Heart	heart
41	chr10:52369400-52372400	Enhancers	Ovary	ovary
42	chr10:52369400-52375400	Enhancers	Brain Anterior Caudate	brain
43	chr10:52369600-52371400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr10:52369600-52371800	Enhancers	Left Ventricle	heart
45	chr10:52369600-52374200	Enhancers	Fetal Lung	lung
46	chr10:52369600-52374800	Enhancers	Brain Cingulate Gyrus	brain
47	chr10:52369600-52375400	Enhancers	Psoas Muscle	Psoas
48	chr10:52369600-52375400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr10:52369600-52375800	Enhancers	Brain Angular Gyrus	brain
50	chr10:52369600-52375800	Enhancers	Brain Hippocampus Middle	brain

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