Variant report

Variant	rs17135586
Chromosome Location	chr5:112712929-112712930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112712448..112713203-chr5:112941932..112942910,3	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10035293	0.81[ASN][1000 genomes]
rs10038504	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs10043783	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs10043834	0.81[ASN][1000 genomes]
rs10053052	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs10053157	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs10053622	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs10055327	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs10057000	0.82[ASN][1000 genomes]
rs10057264	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs10057372	0.87[ASN][1000 genomes]
rs10060179	0.82[ASN][1000 genomes]
rs10063334	0.85[CHB][hapmap]
rs10066163	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs10078576	0.81[ASN][1000 genomes]
rs10155616	1.00[CEU][hapmap]
rs10477492	0.87[ASN][1000 genomes]
rs10478123	0.87[ASN][1000 genomes]
rs10478124	0.87[ASN][1000 genomes]
rs10519341	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[LWK][hapmap];1.00[MKK][hapmap];0.95[EUR][1000 genomes]
rs11950577	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs11952758	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs11953401	0.87[ASN][1000 genomes]
rs11960559	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs12656898	1.00[AMR][1000 genomes]
rs12659593	1.00[AMR][1000 genomes]
rs13354840	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs13355687	0.87[ASN][1000 genomes]
rs13358111	0.87[ASN][1000 genomes]
rs1582487	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17135473	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17135525	0.95[EUR][1000 genomes]
rs17135541	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17135601	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135607	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135615	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135618	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs17135647	1.00[AMR][1000 genomes]
rs17376277	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs1816063	1.00[AMR][1000 genomes]
rs1822487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1822494	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[EUR][1000 genomes]
rs2222145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28566618	0.82[ASN][1000 genomes]
rs28714108	0.82[ASN][1000 genomes]
rs28793421	0.82[ASN][1000 genomes]
rs2900070	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34936289	0.87[ASN][1000 genomes]
rs35724644	0.87[ASN][1000 genomes]
rs3842916	0.85[CHB][hapmap]
rs3843500	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3843501	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs3857436	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs41420244	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap]
rs41459745	0.84[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4345310	1.00[CEU][hapmap]
rs55912732	0.87[ASN][1000 genomes]
rs56081130	0.87[ASN][1000 genomes]
rs56090613	0.86[EUR][1000 genomes]
rs589147	1.00[CEU][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs59073951	0.87[EUR][1000 genomes]
rs59211196	0.87[ASN][1000 genomes]
rs6594702	0.87[ASN][1000 genomes]
rs6871668	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.92[MKK][hapmap];0.95[EUR][1000 genomes]
rs6871995	0.87[ASN][1000 genomes]
rs6879370	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs73779003	0.87[ASN][1000 genomes]
rs73779004	0.87[ASN][1000 genomes]
rs73779005	0.87[ASN][1000 genomes]
rs73779006	0.87[ASN][1000 genomes]
rs7705430	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs7705568	0.87[ASN][1000 genomes]
rs7709433	0.83[ASN][1000 genomes]
rs7709550	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs7709818	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs7715071	0.87[ASN][1000 genomes]
rs7715884	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs7719254	0.82[EUR][1000 genomes]
rs7722421	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs7726631	0.87[ASN][1000 genomes]
rs7735806	0.89[ASN][1000 genomes]
rs882755	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112700800-112718000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:112707800-112719000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:112708000-112713800	Weak transcription	HMEC	breast
4	chr5:112708000-112714000	Weak transcription	NHEK	skin
5	chr5:112708000-112716200	Weak transcription	Fetal Kidney	kidney
6	chr5:112708600-112713400	Weak transcription	HUVEC	blood vessel
7	chr5:112710600-112714200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:112711000-112713200	Enhancers	Dnd41	blood
9	chr5:112711400-112713000	Bivalent Enhancer	Primary T cells from cord blood	blood
10	chr5:112711400-112713400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:112711400-112716200	Weak transcription	NH-A	brain
12	chr5:112711600-112714200	Weak transcription	Fetal Stomach	stomach
13	chr5:112711800-112715000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:112711800-112716200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:112712400-112713800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr5:112712400-112714000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr5:112712600-112714000	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr5:112712600-112714000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr5:112712600-112714000	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr5:112712600-112715400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:112712600-112715800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr5:112712800-112713800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr5:112712800-112714000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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