Variant report

Variant	rs950194
Chromosome Location	chr5:97440834-97440835
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10051746	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11741226	0.93[ASN][1000 genomes]
rs1363141	0.93[ASN][1000 genomes]
rs1363142	0.93[ASN][1000 genomes]
rs1421793	0.93[ASN][1000 genomes]
rs1421800	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1421802	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1421803	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1559055	0.94[ASN][1000 genomes]
rs4130406	0.92[ASN][1000 genomes]
rs4134469	0.97[ASN][1000 genomes]
rs4568385	0.89[ASN][1000 genomes]
rs4869401	0.88[ASN][1000 genomes]
rs4869402	0.87[ASN][1000 genomes]
rs5009396	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56817383	0.88[ASN][1000 genomes]
rs59027384	0.93[ASN][1000 genomes]
rs59396409	0.86[ASN][1000 genomes]
rs59750199	0.86[ASN][1000 genomes]
rs62368546	0.89[ASN][1000 genomes]
rs6557032	0.94[ASN][1000 genomes]
rs6881840	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6889775	0.84[ASN][1000 genomes]
rs6892262	0.93[ASN][1000 genomes]
rs72769607	0.88[ASN][1000 genomes]
rs7730814	0.93[ASN][1000 genomes]
rs7733470	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs950195	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9791040	0.90[ASN][1000 genomes]
rs9791126	0.89[ASN][1000 genomes]
rs9800399	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882404	chr5:97281641-97638743	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1031989	chr5:97333291-97524353	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1034472	chr5:97357264-97523965	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1019049	chr5:97373215-97442582	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS	lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv2758004	chr5:97395508-97550089	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv2759357	chr5:97395508-97616089	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv599076	chr5:97423476-97478555	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv32866	chr5:97424721-97463865	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv10722	chr5:97439602-97442546	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
10	esv2753887	chr5:97439630-97532740	Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97432400-97443400	Weak transcription	NH-A	brain
2	chr5:97432800-97441400	Weak transcription	Osteobl	bone
3	chr5:97436200-97442600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:97436200-97443400	Weak transcription	HMEC	breast
5	chr5:97437400-97442000	Weak transcription	HUVEC	blood vessel
6	chr5:97437800-97441000	Weak transcription	HSMMtube	muscle
7	chr5:97438800-97441400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:97438800-97442400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:97438800-97442800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:97439800-97445000	Enhancers	NHDF-Ad	bronchial
11	chr5:97440000-97443200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:97440200-97441000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:97440200-97447800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:97440400-97442400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:97440600-97441400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:97440600-97441800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:97440600-97442800	Enhancers	NHLF	lung
18	chr5:97440800-97441200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:97440800-97441800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:97440800-97442600	Enhancers	Adipose Nuclei	Adipose
21	chr5:97440800-97445000	Enhancers	HSMM	muscle

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