Variant report

Variant	rs2961611
Chromosome Location	chr10:5011460-5011461
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:5007151..5009513-chr10:5009943..5012449,2	K562	blood:
2	chr10:5005241..5007443-chr10:5009347..5011794,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187134	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10904380	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11252850	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11252855	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2904798	0.90[ASN][1000 genomes]
rs2904799	0.91[ASN][1000 genomes]
rs2961612	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2961613	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3925302	0.90[EUR][1000 genomes]
rs3930966	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription 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	47 gene(s)	inside rSNPs	diseases
2	nsv948794	chr10:4863093-5227382	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1045155	chr10:4872239-5211318	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040343	chr10:4872814-5196815	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540462	chr10:4872814-5196815	Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv869470	chr10:4878904-5203685	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv466713	chr10:4901798-5319679	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv549881	chr10:4901798-5319679	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers 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 miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv1050246	chr10:4927428-5211318	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv549882	chr10:4943518-5203864	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv2763913	chr10:4961021-5321407	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv894794	chr10:4972761-5121745	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv430122	chr10:4986040-5134511	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv825221	chr10:4999349-5046239	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	nsv947726	chr10:5008069-5012084	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv1039386	chr10:5008383-5348491	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4998200-5023800	Weak transcription	Gastric	stomach
2	chr10:5004800-5023800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr10:5005800-5027400	Weak transcription	Fetal Stomach	stomach
4	chr10:5005800-5045800	Weak transcription	HSMMtube	muscle
5	chr10:5006000-5023800	Weak transcription	Esophagus	oesophagus
6	chr10:5006000-5023800	Weak transcription	Left Ventricle	heart
7	chr10:5006000-5024000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr10:5007200-5011600	Weak transcription	Fetal Heart	heart
9	chr10:5007200-5021600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr10:5007200-5023200	Weak transcription	Fetal Intestine Large	intestine
11	chr10:5007200-5023600	Weak transcription	Fetal Intestine Small	intestine
12	chr10:5007200-5023800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr10:5007400-5023800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr10:5007400-5023800	Weak transcription	Right Ventricle	heart
15	chr10:5007400-5024200	Weak transcription	NHEK	skin
16	chr10:5008200-5021000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr10:5008200-5044000	Weak transcription	Fetal Brain Male	brain
18	chr10:5008800-5015800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:5008800-5023200	Weak transcription	Stomach Mucosa	stomach
20	chr10:5009400-5027200	Weak transcription	Spleen	Spleen
21	chr10:5009600-5012800	Strong transcription	Adipose Nuclei	Adipose
22	chr10:5009600-5023600	Weak transcription	Fetal Muscle Leg	muscle
23	chr10:5009600-5024000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr10:5009600-5027000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr10:5009800-5021800	Strong transcription	Liver	Liver
26	chr10:5010000-5013200	Weak transcription	Small Intestine	intestine
27	chr10:5010200-5024000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr10:5010600-5011800	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr10:5010600-5012800	Genic enhancers	HepG2	liver
30	chr10:5010800-5011600	Strong transcription	Fetal Brain Female	brain
31	chr10:5010800-5011800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr10:5010800-5011800	Strong transcription	Psoas Muscle	Psoas
33	chr10:5010800-5011800	Strong transcription	Stomach Smooth Muscle	stomach
34	chr10:5010800-5012000	Strong transcription	Brain Germinal Matrix	brain
35	chr10:5010800-5012800	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr10:5010800-5012800	Strong transcription	NHDF-Ad	bronchial
37	chr10:5010800-5023800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr10:5011000-5011800	Strong transcription	Duodenum Mucosa	Duodenum
39	chr10:5011000-5012000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr10:5011000-5012200	Strong transcription	Ovary	ovary
41	chr10:5011200-5011800	Strong transcription	Aorta	Aorta
42	chr10:5011200-5011800	Transcr. at gene 5' and 3'	A549	lung
43	chr10:5011200-5012000	Strong transcription	Osteobl	bone
44	chr10:5011200-5012200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr10:5011400-5011600	ZNF genes & repeats	Lung	lung
46	chr10:5011400-5023000	Weak transcription	K562	blood

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