Variant report

Variant	rs2513008
Chromosome Location	chr11:86438669-86438670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1075702	0.95[CHB][hapmap];0.89[CHD][hapmap]
rs12802848	0.82[CHB][hapmap]
rs2433406	0.88[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2433407	0.91[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs2433408	0.88[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2433409	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433410	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2433411	0.96[ASN][1000 genomes]
rs2433424	0.89[ASN][1000 genomes]
rs2433425	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2433426	0.92[ASN][1000 genomes]
rs2433427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2433428	0.91[ASN][1000 genomes]
rs2433429	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2433430	0.84[ASN][1000 genomes]
rs2433431	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2433432	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2433433	0.91[CHB][hapmap];0.89[CHD][hapmap]
rs2433434	0.91[CHB][hapmap];0.89[CHD][hapmap]
rs2433435	0.95[CHB][hapmap];0.89[CHD][hapmap];0.80[ASN][1000 genomes]
rs2433436	0.91[CHB][hapmap];0.87[CHD][hapmap]
rs2433438	0.91[CHB][hapmap];0.84[CHD][hapmap]
rs2433439	0.91[CHB][hapmap];0.87[CHD][hapmap]
rs2512996	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2512997	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2512998	0.86[ASN][1000 genomes]
rs2512999	0.92[ASN][1000 genomes]
rs2513000	0.90[ASN][1000 genomes]
rs2513001	0.92[ASN][1000 genomes]
rs2513003	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2513005	0.86[CHB][hapmap]
rs2513006	0.96[ASN][1000 genomes]
rs2513009	0.99[ASN][1000 genomes]
rs2513010	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2513011	0.94[ASN][1000 genomes]
rs2513012	0.94[ASN][1000 genomes]
rs2513018	0.95[CHB][hapmap]
rs3096711	0.94[ASN][1000 genomes]
rs3096714	0.89[ASN][1000 genomes]
rs3096715	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs3096716	0.86[CHB][hapmap]
rs4307743	0.82[CHB][hapmap]
rs4570601	0.82[CHB][hapmap]
rs4586194	0.91[ASN][1000 genomes]
rs4944630	0.82[CHB][hapmap]
rs7108176	0.90[ASN][1000 genomes]
rs7108300	0.88[ASN][1000 genomes]
rs7115320	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7124794	0.90[ASN][1000 genomes]
rs7129902	0.87[ASN][1000 genomes]
rs7948063	0.82[CHB][hapmap]
rs7951582	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1055071	chr11:86301240-86465465	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv428263	chr11:86357990-86508480	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1049157	chr11:86409059-86504155	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv521505	chr11:86438115-86515072	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86407000-86451600	Weak transcription	Left Ventricle	heart
2	chr11:86424200-86449800	Weak transcription	Pancreas	Pancrea
3	chr11:86434800-86446400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:86435200-86439000	Enhancers	HMEC	breast
5	chr11:86436400-86438800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:86436400-86439000	Enhancers	Hela-S3	cervix
7	chr11:86436600-86439600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:86437200-86440400	Enhancers	A549	lung
9	chr11:86437600-86446000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:86437800-86439000	Weak transcription	HSMM	muscle
11	chr11:86437800-86439600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:86437800-86439600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:86437800-86444200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:86437800-86446400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:86438000-86439400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:86438000-86446200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:86438400-86438800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:86438400-86446400	Weak transcription	NHEK	skin

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