Variant report

Variant	rs4944631
Chromosome Location	chr11:86477140-86477141
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86476625..86478672-chr11:86482969..86484752,2	K562	blood:
2	chr11:86453173..86455061-chr11:86477105..86479906,2	MCF-7	breast:
3	chr11:86474930..86477199-chr11:86478962..86481017,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10792875	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10898534	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10898535	0.81[CEU][hapmap]
rs11234783	0.84[EUR][1000 genomes]
rs11234795	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11234804	0.81[CEU][hapmap]
rs11234805	0.87[CEU][hapmap]
rs11234809	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11601553	0.88[ASN][1000 genomes]
rs11602695	0.81[ASN][1000 genomes]
rs12361769	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12366016	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12576018	0.87[ASN][1000 genomes]
rs12793595	0.84[CEU][hapmap]
rs12797648	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12802848	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12809023	0.88[ASN][1000 genomes]
rs17211926	0.86[ASN][1000 genomes]
rs17819068	0.95[ASN][1000 genomes]
rs1807014	0.85[ASN][1000 genomes]
rs1939117	0.88[ASN][1000 genomes]
rs2513018	0.81[EUR][1000 genomes]
rs34833002	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35902217	0.88[ASN][1000 genomes]
rs36061072	0.88[ASN][1000 genomes]
rs4128368	0.87[ASN][1000 genomes]
rs4245426	0.84[EUR][1000 genomes]
rs4245427	0.98[ASN][1000 genomes]
rs4269941	0.89[ASN][1000 genomes]
rs4307743	0.89[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4450192	0.96[ASN][1000 genomes]
rs4495915	0.89[ASN][1000 genomes]
rs4570601	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4943957	0.85[EUR][1000 genomes]
rs4943958	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943959	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4943960	0.97[ASN][1000 genomes]
rs4944630	0.89[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944632	0.96[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944633	0.99[ASN][1000 genomes]
rs4944634	0.97[ASN][1000 genomes]
rs55646317	0.87[ASN][1000 genomes]
rs58823830	0.90[ASN][1000 genomes]
rs58976693	0.87[ASN][1000 genomes]
rs59850783	0.97[ASN][1000 genomes]
rs60023003	0.98[ASN][1000 genomes]
rs61690902	0.93[ASN][1000 genomes]
rs61707378	0.88[ASN][1000 genomes]
rs6592314	0.81[CEU][hapmap]
rs6592315	0.88[ASN][1000 genomes]
rs7105467	0.90[ASN][1000 genomes]
rs7120185	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7120320	0.86[ASN][1000 genomes]
rs7123349	0.88[ASN][1000 genomes]
rs7126492	0.88[ASN][1000 genomes]
rs7128682	0.81[CEU][hapmap]
rs744292	0.87[ASN][1000 genomes]
rs7926235	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926713	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7926946	0.93[ASN][1000 genomes]
rs7927257	0.93[ASN][1000 genomes]
rs7927479	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7940201	0.86[ASN][1000 genomes]
rs7942344	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7948063	0.88[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7950776	0.96[ASN][1000 genomes]
rs7951582	0.88[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	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	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
4	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
5	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
6	nsv468775	chr11:86453415-86480716	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv555705	chr11:86453415-86480716	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86456600-86478000	Weak transcription	Aorta	Aorta
2	chr11:86461400-86479600	Weak transcription	Psoas Muscle	Psoas
3	chr11:86473600-86480200	Weak transcription	A549	lung
4	chr11:86473800-86479600	Weak transcription	Left Ventricle	heart
5	chr11:86473800-86480000	Weak transcription	HSMMtube	muscle
6	chr11:86473800-86480200	Weak transcription	Hela-S3	cervix
7	chr11:86473800-86480200	Weak transcription	Osteobl	bone
8	chr11:86474400-86479600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:86474400-86480200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:86474600-86479400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr11:86475800-86477200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:86476200-86477200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:86476400-86477400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:86476600-86477200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr11:86476600-86480200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:86476800-86477200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr11:86476800-86477600	Weak transcription	Fetal Stomach	stomach
18	chr11:86476800-86479800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:86476800-86480000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:86477000-86477200	Enhancers	Fetal Kidney	kidney

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