Variant report

Variant	rs4943957
Chromosome Location	chr11:86464912-86464913
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86464108..86466756-chr11:86468964..86470854,2	MCF-7	breast:
2	chr11:86464300..86466562-chr11:86483037..86485838,2	MCF-7	breast:
3	chr11:86458961..86460479-chr11:86463920..86465625,2	MCF-7	breast:
4	chr11:86463047..86464957-chr11:86484717..86487462,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10751141	0.82[CHB][hapmap]
rs1075702	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10792875	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10898534	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11234783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234795	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11234834	0.81[CHB][hapmap]
rs11601553	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs12576018	0.83[ASN][1000 genomes]
rs12802848	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs17211926	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs17819068	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs2433406	0.91[CHB][hapmap]
rs2433407	0.87[CHB][hapmap]
rs2433408	0.91[CHB][hapmap]
rs2433409	0.95[CHB][hapmap]
rs2433424	0.82[ASN][1000 genomes]
rs2433425	0.82[ASN][1000 genomes]
rs2433426	0.81[ASN][1000 genomes]
rs2433427	0.96[CHB][hapmap];0.83[ASN][1000 genomes]
rs2433428	0.83[ASN][1000 genomes]
rs2433429	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs2433431	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs2433432	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs2433433	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2433434	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2433435	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2433436	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2433438	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2433439	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2433440	0.92[ASN][1000 genomes]
rs2433441	0.92[ASN][1000 genomes]
rs2512978	0.92[ASN][1000 genomes]
rs2512979	0.92[ASN][1000 genomes]
rs2512996	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs2512997	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs2512999	0.82[ASN][1000 genomes]
rs2513000	0.82[ASN][1000 genomes]
rs2513001	0.82[ASN][1000 genomes]
rs2513003	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs2513004	0.82[ASN][1000 genomes]
rs2513005	0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs2513018	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2513019	0.92[ASN][1000 genomes]
rs3096714	0.81[ASN][1000 genomes]
rs3096715	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs3096716	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3096717	0.93[ASN][1000 genomes]
rs3096718	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs34833002	0.84[EUR][1000 genomes]
rs4128368	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs4245426	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4269941	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs4307743	0.87[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4570601	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4586194	0.80[ASN][1000 genomes]
rs4943958	0.85[EUR][1000 genomes]
rs4943959	0.84[EUR][1000 genomes]
rs4944629	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4944630	0.87[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4944631	0.85[EUR][1000 genomes]
rs4944632	0.85[EUR][1000 genomes]
rs61690902	0.80[ASN][1000 genomes]
rs6592315	0.81[JPT][hapmap]
rs6592317	0.81[CHB][hapmap]
rs7108176	0.82[ASN][1000 genomes]
rs7108300	0.80[ASN][1000 genomes]
rs7126492	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs7926235	0.85[EUR][1000 genomes]
rs7926713	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7927479	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7942344	0.85[EUR][1000 genomes]
rs7948063	0.86[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7951582	0.86[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
7	nsv468775	chr11:86453415-86480716	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv555705	chr11:86453415-86480716	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86454000-86474000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:86456600-86478000	Weak transcription	Aorta	Aorta
3	chr11:86460800-86466800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr11:86461400-86465400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:86461400-86465800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:86461400-86479600	Weak transcription	Psoas Muscle	Psoas
7	chr11:86461600-86471600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:86462400-86469600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:86463600-86465400	Enhancers	Pancreas	Pancrea
10	chr11:86464400-86465400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:86464600-86467000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:86464800-86466000	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:86464800-86471600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:86464800-86472600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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