Variant report

Variant	rs6596500
Chromosome Location	chr5:101847509-101847510
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:101843238..101845841-chr5:101846522..101849162,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10035507	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10038730	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10041969	1.00[JPT][hapmap]
rs10045929	1.00[JPT][hapmap]
rs10051006	1.00[JPT][hapmap]
rs10057940	0.93[ASN][1000 genomes]
rs10059568	0.93[ASN][1000 genomes]
rs10059604	0.93[ASN][1000 genomes]
rs10060403	1.00[JPT][hapmap]
rs10066065	0.93[ASN][1000 genomes]
rs10069964	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10070269	0.93[ASN][1000 genomes]
rs10073454	0.93[ASN][1000 genomes]
rs10075530	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10077046	0.93[ASN][1000 genomes]
rs10477819	0.93[ASN][1000 genomes]
rs10479213	1.00[JPT][hapmap]
rs10479237	0.93[ASN][1000 genomes]
rs10515328	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10515329	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13357560	0.93[ASN][1000 genomes]
rs13358233	1.00[JPT][hapmap]
rs13361792	0.93[ASN][1000 genomes]
rs1452063	1.00[JPT][hapmap]
rs1502843	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1502850	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17150488	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17151033	1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151574	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17152198	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs28415625	1.00[ASN][1000 genomes]
rs41389647	1.00[JPT][hapmap]
rs56181501	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58139210	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6860730	0.95[YRI][hapmap];0.85[AFR][1000 genomes]
rs6862833	0.93[ASN][1000 genomes]
rs6866284	0.93[ASN][1000 genomes]
rs6870113	0.93[ASN][1000 genomes]
rs6870270	0.93[ASN][1000 genomes]
rs6876722	1.00[JPT][hapmap]
rs6881472	0.96[YRI][hapmap]
rs6883528	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6885350	1.00[JPT][hapmap]
rs6885781	0.93[ASN][1000 genomes]
rs6885940	0.93[ASN][1000 genomes]
rs6890447	0.93[ASN][1000 genomes]
rs6898458	0.89[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72779996	1.00[ASN][1000 genomes]
rs72779997	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705924	0.93[ASN][1000 genomes]
rs7709217	0.93[ASN][1000 genomes]
rs7722117	0.85[ASN][1000 genomes]
rs7728204	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7729674	0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs9327866	0.93[ASN][1000 genomes]
rs9686862	0.93[ASN][1000 genomes]
rs9687561	0.93[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	nsv817537	chr5:101489151-101992104	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1016176	chr5:101534391-102333606	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv537831	chr5:101534391-102333606	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1029894	chr5:101620079-102516827	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv830427	chr5:101651510-101849723	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1030022	chr5:101764756-101852804	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv830428	chr5:101797242-101958791	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1022583	chr5:101829366-101899242	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr5:101846000-101848200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:101846800-101848000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:101846800-101848200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:101846800-101848200	Enhancers	Brain Substantia Nigra	brain
5	chr5:101847000-101847600	Enhancers	HSMM	muscle
6	chr5:101847000-101847600	Enhancers	Osteobl	bone
7	chr5:101847000-101848000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:101847000-101848000	Enhancers	Adipose Nuclei	Adipose
9	chr5:101847000-101848200	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr5:101847000-101848200	Enhancers	HSMMtube	muscle
11	chr5:101847200-101847800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr5:101847200-101848000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:101847400-101847600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:101847400-101847600	Enhancers	Rectal Smooth Muscle	rectum
15	chr5:101847400-101848000	Enhancers	Colon Smooth Muscle	Colon
16	chr5:101847400-101848200	Enhancers	Brain Angular Gyrus	brain
17	chr5:101847400-101848200	Enhancers	Brain Hippocampus Middle	brain
18	chr5:101847400-101848200	Enhancers	Psoas Muscle	Psoas

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