Variant report

Variant	rs2637003
Chromosome Location	chr5:52889667-52889668
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs12514280	0.82[CHB][hapmap]
rs13177321	0.96[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs1490769	0.91[CHB][hapmap]
rs1532162	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16881474	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs1844697	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs1873426	0.91[JPT][hapmap]
rs187658	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs189849	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2124950	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs256081	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs256082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs256093	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs256094	0.91[CHB][hapmap]
rs256098	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs256111	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs256118	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs2607478	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2607485	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs2607506	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs2607508	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2636993	0.91[CHB][hapmap]
rs2637002	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs2637029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs31308	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs365358	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs365578	0.91[CHB][hapmap]
rs366313	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs368461	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs372215	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs377077	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs381575	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs392169	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs404838	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs412559	0.91[CHB][hapmap]
rs4147732	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs4147734	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs417550	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs425880	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs432020	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs435713	0.87[CHB][hapmap]
rs445347	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs451881	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs524289	0.90[JPT][hapmap];0.89[YRI][hapmap]
rs535277	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs7711180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7717681	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs786334	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs889290	1.00[CEU][hapmap]
rs918625	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs923610	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9292024	0.91[CHB][hapmap]
rs9790964	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]

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	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv880868	chr5:52799618-53002783	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv880689	chr5:52847995-53002783	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv881348	chr5:52885100-52942083	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv881237	chr5:52885100-52944428	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv880426	chr5:52885100-52953048	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv881604	chr5:52885100-53035301	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52857800-52892800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:52857800-52898800	Weak transcription	HSMM	muscle
3	chr5:52858000-52899800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:52858000-52900400	Weak transcription	Fetal Kidney	kidney
5	chr5:52858200-52897200	Weak transcription	NHEK	skin
6	chr5:52858400-52895000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:52858400-52899800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr5:52860000-52909000	Weak transcription	Small Intestine	intestine
9	chr5:52861600-52894600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:52865000-52900400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:52865600-52898400	Weak transcription	Fetal Lung	lung
12	chr5:52865600-52899800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:52869600-52896000	Weak transcription	Fetal Stomach	stomach
14	chr5:52870200-52892000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:52872000-52892800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:52873000-52900400	Weak transcription	Gastric	stomach
17	chr5:52873200-52899000	Weak transcription	Right Atrium	heart
18	chr5:52873400-52889800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:52874600-52889800	Weak transcription	HepG2	liver
20	chr5:52875000-52900000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:52875400-52899200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr5:52876800-52907400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:52877400-52900400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:52877600-52898800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:52878400-52899000	Weak transcription	Ovary	ovary
26	chr5:52878400-52901200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr5:52879600-52895200	Weak transcription	Fetal Intestine Large	intestine
28	chr5:52883000-52900200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr5:52883400-52893000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:52884200-52900400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr5:52884400-52897200	Weak transcription	HMEC	breast
32	chr5:52885400-52900400	Weak transcription	Primary T cells from cord blood	blood
33	chr5:52885600-52889800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr5:52885600-52897800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:52885600-52898800	Weak transcription	Pancreas	Pancrea
36	chr5:52885600-52899000	Weak transcription	Aorta	Aorta
37	chr5:52885600-52902600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr5:52885800-52889800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr5:52885800-52894800	Weak transcription	Left Ventricle	heart
40	chr5:52885800-52899600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:52885800-52906000	Weak transcription	Psoas Muscle	Psoas
42	chr5:52887000-52889800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr5:52887000-52900000	Weak transcription	Brain Anterior Caudate	brain
44	chr5:52887400-52892800	Weak transcription	Brain Hippocampus Middle	brain
45	chr5:52888000-52889800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:52888000-52890000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:52888000-52905000	Weak transcription	Right Ventricle	heart
48	chr5:52888200-52890000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr5:52888200-52899000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr5:52888400-52890800	Enhancers	Fetal Heart	heart

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