Variant report

Variant	rs12264439
Chromosome Location	chr10:5010319-5010320
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5003815..5006768-chr10:5008724..5010986,2	K562	blood:
2	chr10:5007151..5009513-chr10:5009943..5012449,2	K562	blood:
3	chr10:5005241..5007443-chr10:5009347..5011794,2	MCF-7	breast:
4	chr10:5008134..5010940-chr10:5050778..5053121,2	K562	blood:

Variant related genes	Relation type
ENSG00000238840	Chromatin interaction
ENSG00000187134	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11252853	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12263706	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12264914	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3890593	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3890643	0.83[AMR][1000 genomes]
rs3898029	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3923936	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3925947	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4445550	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4512733	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6601884	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7074155	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7076886	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7089378	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72769971	0.86[ASN][1000 genomes]
rs7893456	0.86[ASN][1000 genomes]
rs7906245	0.82[AMR][1000 genomes]
rs7908994	0.86[ASN][1000 genomes]
rs7916644	0.91[AMR][1000 genomes];0.90[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:44 , 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	chr10:5005800-5011000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr10:5005800-5027400	Weak transcription	Fetal Stomach	stomach
5	chr10:5005800-5045800	Weak transcription	HSMMtube	muscle
6	chr10:5006000-5023800	Weak transcription	Esophagus	oesophagus
7	chr10:5006000-5023800	Weak transcription	Left Ventricle	heart
8	chr10:5006000-5024000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr10:5006200-5011000	Weak transcription	Ovary	ovary
10	chr10:5006200-5011200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:5006800-5010800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr10:5006800-5011200	Weak transcription	Osteobl	bone
13	chr10:5007200-5010600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr10:5007200-5011200	Weak transcription	Aorta	Aorta
15	chr10:5007200-5011600	Weak transcription	Fetal Heart	heart
16	chr10:5007200-5021600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr10:5007200-5023200	Weak transcription	Fetal Intestine Large	intestine
18	chr10:5007200-5023600	Weak transcription	Fetal Intestine Small	intestine
19	chr10:5007200-5023800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr10:5007400-5010800	Weak transcription	Fetal Brain Female	brain
21	chr10:5007400-5011000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr10:5007400-5023800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr10:5007400-5023800	Weak transcription	Right Ventricle	heart
24	chr10:5007400-5024200	Weak transcription	NHEK	skin
25	chr10:5007600-5010800	Weak transcription	Brain Germinal Matrix	brain
26	chr10:5008000-5010800	Weak transcription	Psoas Muscle	Psoas
27	chr10:5008000-5011000	Weak transcription	K562	blood
28	chr10:5008200-5021000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr10:5008200-5044000	Weak transcription	Fetal Brain Male	brain
30	chr10:5008400-5010800	Weak transcription	NHDF-Ad	bronchial
31	chr10:5008800-5015800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr10:5008800-5023200	Weak transcription	Stomach Mucosa	stomach
33	chr10:5009400-5027200	Weak transcription	Spleen	Spleen
34	chr10:5009600-5010400	Weak transcription	A549	lung
35	chr10:5009600-5010600	Weak transcription	HepG2	liver
36	chr10:5009600-5010800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr10:5009600-5010800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr10:5009600-5012800	Strong transcription	Adipose Nuclei	Adipose
39	chr10:5009600-5023600	Weak transcription	Fetal Muscle Leg	muscle
40	chr10:5009600-5024000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr10:5009600-5027000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr10:5009800-5021800	Strong transcription	Liver	Liver
43	chr10:5010000-5013200	Weak transcription	Small Intestine	intestine
44	chr10:5010200-5024000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links