Variant report

Variant	rs4637579
Chromosome Location	chr5:97550513-97550514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:97546193..97548925-chr5:97549441..97552160,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10037108	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10038551	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10057820	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10059440	0.81[ASN][1000 genomes]
rs10066757	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10073145	0.81[ASN][1000 genomes]
rs10463222	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11747255	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11749431	0.81[ASN][1000 genomes]
rs11949209	0.82[AMR][1000 genomes]
rs12153641	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13357145	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4349744	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4362967	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4438900	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4449560	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4535481	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4557438	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56191294	0.81[ASN][1000 genomes]
rs59372358	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6889644	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7444076	0.81[ASN][1000 genomes]
rs7444924	0.81[ASN][1000 genomes]
rs7447472	0.81[ASN][1000 genomes]
rs7447506	0.81[ASN][1000 genomes]
rs7707423	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7709079	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[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	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	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
3	esv2757123	chr5:97442526-97616089	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1033719	chr5:97446209-97557327	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv818360	chr5:97447595-97557817	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv882405	chr5:97477227-97554193	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1029815	chr5:97485129-97563112	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv882406	chr5:97507280-97638743	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 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	chr5:97540400-97551800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:97549000-97551600	Enhancers	HSMMtube	muscle
3	chr5:97549200-97550800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:97549200-97551400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:97549400-97550800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:97549400-97551000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:97549400-97551200	Enhancers	HSMM	muscle
8	chr5:97549400-97551200	Enhancers	Osteobl	bone
9	chr5:97549600-97551000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:97549600-97551000	Enhancers	NHEK	skin
11	chr5:97550000-97551000	Enhancers	NHDF-Ad	bronchial
12	chr5:97550200-97550600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:97550200-97550800	Enhancers	Fetal Muscle Leg	muscle
14	chr5:97550200-97550800	Enhancers	NHLF	lung
15	chr5:97550200-97551000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:97550200-97552400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:97550400-97550800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:97550400-97550800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:97550400-97550800	Enhancers	Psoas Muscle	Psoas
20	chr5:97550400-97551400	Weak transcription	HMEC	breast

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