Variant report

Variant	rs10036575
Chromosome Location	chr5:40685795-40685796
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:40685575..40687656-chr5:40735781..40737891,2	K562	blood:
2	chr5:40674492..40676640-chr5:40683671..40686128,2	MCF-7	breast:
3	chr5:40677704..40682849-chr5:40683671..40689280,11	MCF-7	breast:
4	chr5:40372403..40374012-chr5:40684266..40686880,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171522	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10038769	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10042750	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10055925	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10078575	0.85[ASN][1000 genomes]
rs1345778	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28540420	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4509070	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4957342	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57806386	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60770691	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6860328	0.80[ASN][1000 genomes]
rs6872282	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6873054	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6897169	0.85[ASN][1000 genomes]
rs7716285	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7726270	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7730368	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs980093	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880539	chr5:40662257-40713645	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40678600-40685800	Active TSS	Right Atrium	heart
2	chr5:40679000-40689400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr5:40680200-40689600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
4	chr5:40680800-40690800	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr5:40681800-40685800	Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr5:40682000-40685800	Active TSS	Colonic Mucosa	Colon
7	chr5:40682000-40687200	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr5:40682200-40686400	Active TSS	Rectal Smooth Muscle	rectum
9	chr5:40682400-40685800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr5:40682400-40691400	Weak transcription	Spleen	Spleen
11	chr5:40682800-40685800	Active TSS	Psoas Muscle	Psoas
12	chr5:40682800-40688800	Active TSS	Thymus	Thymus
13	chr5:40682800-40691400	Weak transcription	Lung	lung
14	chr5:40683000-40688600	Weak transcription	NHDF-Ad	bronchial
15	chr5:40683000-40688800	Enhancers	Primary B cells from peripheral blood	blood
16	chr5:40683000-40691600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:40683000-40691600	Weak transcription	Esophagus	oesophagus
18	chr5:40683000-40692000	Weak transcription	Gastric	stomach
19	chr5:40683400-40686000	Transcr. at gene 5' and 3'	HUVEC	blood vessel
20	chr5:40683400-40688000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:40683600-40688800	Enhancers	Fetal Lung	lung
22	chr5:40683800-40687400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr5:40683800-40687400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:40683800-40690200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:40683800-40691600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr5:40684000-40685800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:40684000-40685800	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:40684000-40685800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:40684000-40686200	Enhancers	Fetal Intestine Large	intestine
30	chr5:40684000-40686200	Weak transcription	Small Intestine	intestine
31	chr5:40684000-40686400	Weak transcription	Stomach Mucosa	stomach
32	chr5:40684000-40687000	Enhancers	Primary B cells from cord blood	blood
33	chr5:40684000-40687800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr5:40684000-40687800	Weak transcription	Osteobl	bone
35	chr5:40684000-40688000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr5:40684000-40688000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:40684000-40690200	Weak transcription	Pancreas	Pancrea
38	chr5:40684000-40700600	Weak transcription	Left Ventricle	heart
39	chr5:40684400-40685800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr5:40684400-40686000	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:40684400-40688800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
42	chr5:40684600-40685800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:40684600-40687600	Weak transcription	HSMMtube	muscle
44	chr5:40684600-40688000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:40684600-40688000	Weak transcription	NH-A	brain
46	chr5:40684600-40691600	Weak transcription	Fetal Stomach	stomach
47	chr5:40684600-40700400	Weak transcription	Right Ventricle	heart
48	chr5:40684800-40686200	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr5:40684800-40686400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:40684800-40686800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood

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