Variant report

Variant	rs11006217
Chromosome Location	chr10:52343486-52343487
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:52343264..52344901-chr10:52348884..52350629,3	K562	blood:
2	chr10:52341787..52346100-chr10:52382899..52385718,8	MCF-7	breast:
3	chr10:52331103..52333638-chr10:52341359..52343782,2	K562	blood:
4	chr10:52342133..52345402-chr10:52352257..52355042,3	MCF-7	breast:
5	chr10:52305032..52307353-chr10:52341275..52344217,2	K562	blood:
6	chr10:52342227..52348125-chr10:52381237..52386507,8	K562	blood:
7	chr10:52342059..52344112-chr10:52362150..52364434,3	K562	blood:
8	chr10:52342671..52345197-chr10:52362617..52364673,2	MCF-7	breast:
9	chr10:52337504..52344093-chr10:52356709..52361052,9	K562	blood:
10	chr10:52338053..52345279-chr10:52380666..52386211,11	MCF-7	breast:
11	chr10:52335825..52337405-chr10:52342195..52344591,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000238523	Chromatin interaction
ENSG00000226200	Chromatin interaction
ENSG00000198964	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1010930	0.90[ASN][1000 genomes]
rs10763535	0.89[CHB][hapmap];0.90[ASN][1000 genomes]
rs10763550	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10763560	0.89[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10763566	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10826149	0.86[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs10826155	0.88[ASN][1000 genomes]
rs10826159	0.89[ASN][1000 genomes]
rs10826160	0.86[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs10826161	0.90[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.90[ASN][1000 genomes]
rs10826163	0.90[ASN][1000 genomes]
rs10826164	0.90[ASN][1000 genomes]
rs10826165	0.90[ASN][1000 genomes]
rs10826166	0.90[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs10826167	0.86[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs10826170	0.84[ASN][1000 genomes]
rs10826228	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11006084	0.90[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.87[ASN][1000 genomes]
rs11006114	0.90[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs11006118	0.81[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs11006141	0.86[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs11006160	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11006201	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12219692	0.83[CEU][hapmap];0.81[MEX][hapmap]
rs12415817	0.90[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.90[ASN][1000 genomes]
rs12415836	0.90[ASN][1000 genomes]
rs12572387	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1884570	0.90[ASN][1000 genomes]
rs2144861	0.87[CHD][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.84[ASN][1000 genomes]
rs2224249	0.90[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3011777	0.81[CHB][hapmap]
rs34659292	0.90[ASN][1000 genomes]
rs36122110	0.90[ASN][1000 genomes]
rs4519042	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4519043	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4935173	0.90[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs4935174	0.90[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.89[ASN][1000 genomes]
rs4935733	0.85[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs7074764	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7078284	0.86[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs7083978	0.85[YRI][hapmap]
rs7088141	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7094143	0.90[ASN][1000 genomes]
rs7893884	0.84[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs7900424	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7907260	0.90[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs7915606	0.90[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs7916397	0.86[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs9299582	0.86[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs9919413	0.90[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	nsv8660	chr10:52328259-52346278	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52322000-52348600	Weak transcription	Fetal Stomach	stomach
2	chr10:52332600-52343800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr10:52335000-52343800	Enhancers	Liver	Liver
4	chr10:52336200-52346000	Weak transcription	Esophagus	oesophagus
5	chr10:52336200-52349000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr10:52336400-52346200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:52336400-52348600	Weak transcription	Lung	lung
8	chr10:52336600-52346000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:52336600-52346000	Weak transcription	NHEK	skin
10	chr10:52336800-52363000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr10:52337000-52348000	Weak transcription	Thymus	Thymus
12	chr10:52337800-52346200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr10:52337800-52346400	Weak transcription	Spleen	Spleen
14	chr10:52337800-52347800	Weak transcription	Fetal Thymus	thymus
15	chr10:52337800-52352800	Weak transcription	Fetal Brain Male	brain
16	chr10:52338000-52345600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr10:52338000-52346000	Weak transcription	Ovary	ovary
18	chr10:52338000-52346000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr10:52338000-52346200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr10:52338000-52346200	Weak transcription	HUVEC	blood vessel
21	chr10:52338000-52356400	Weak transcription	Fetal Brain Female	brain
22	chr10:52338000-52363800	Weak transcription	Fetal Kidney	kidney
23	chr10:52338000-52367000	Weak transcription	Aorta	Aorta
24	chr10:52338200-52346200	Weak transcription	NHDF-Ad	bronchial
25	chr10:52338200-52346400	Weak transcription	Adipose Nuclei	Adipose
26	chr10:52338200-52346400	Weak transcription	Osteobl	bone
27	chr10:52338200-52347600	Weak transcription	Fetal Muscle Leg	muscle
28	chr10:52338200-52347800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr10:52338200-52348800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr10:52338200-52353600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr10:52338200-52353800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr10:52338400-52346000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr10:52338400-52346200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr10:52338400-52348000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr10:52338600-52344400	Weak transcription	Colon Smooth Muscle	Colon
36	chr10:52338600-52347600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr10:52338600-52353400	Weak transcription	Brain Germinal Matrix	brain
38	chr10:52338600-52353600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr10:52338800-52347800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr10:52338800-52348000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr10:52339400-52344400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr10:52339600-52346000	Weak transcription	Placenta	Placenta
43	chr10:52340400-52346000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr10:52340400-52360200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr10:52341000-52346000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr10:52341000-52346200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr10:52341000-52347600	Weak transcription	Fetal Lung	lung
48	chr10:52341000-52348000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr10:52341200-52346000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr10:52341200-52347400	Weak transcription	HepG2	liver

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