Variant report

Variant	rs256349
Chromosome Location	chr5:59168662-59168663
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	chr5:59158111..59160779-chr5:59168630..59170502,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10045168	1.00[ASN][1000 genomes]
rs10052367	1.00[ASN][1000 genomes]
rs10052716	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10062267	1.00[ASN][1000 genomes]
rs10065233	1.00[ASN][1000 genomes]
rs10073739	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10076914	1.00[ASN][1000 genomes]
rs10472114	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10514881	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11738448	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs11741470	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13164391	1.00[ASN][1000 genomes]
rs13168643	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13177163	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13361053	1.00[ASN][1000 genomes]
rs1504985	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs159612	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs159614	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs159615	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs159618	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159623	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs159625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16890078	0.83[ASN][1000 genomes]
rs173944	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs190458	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs194368	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1960603	1.00[ASN][1000 genomes]
rs256351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256354	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256355	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2938782	0.80[CEU][hapmap]
rs2963820	0.86[CEU][hapmap]
rs3111174	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs35302677	1.00[ASN][1000 genomes]
rs56063442	1.00[ASN][1000 genomes]
rs58802762	1.00[ASN][1000 genomes]
rs61229155	1.00[ASN][1000 genomes]
rs62370463	1.00[ASN][1000 genomes]
rs62370466	1.00[ASN][1000 genomes]
rs62370490	1.00[ASN][1000 genomes]
rs62370491	1.00[ASN][1000 genomes]
rs62370494	1.00[ASN][1000 genomes]
rs62370495	1.00[ASN][1000 genomes]
rs62370496	1.00[ASN][1000 genomes]
rs62370498	1.00[ASN][1000 genomes]
rs62370501	1.00[ASN][1000 genomes]
rs62370505	1.00[ASN][1000 genomes]
rs62370506	1.00[ASN][1000 genomes]
rs62370529	1.00[ASN][1000 genomes]
rs6865975	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs72751228	1.00[ASN][1000 genomes]
rs7706277	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7706573	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7718096	0.86[EUR][1000 genomes]
rs7731666	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7732908	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9292210	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9292211	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9292212	1.00[ASN][1000 genomes]
rs9292213	1.00[ASN][1000 genomes]
rs9292214	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018015	chr5:58889470-59532667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv537766	chr5:58889470-59532667	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv534614	chr5:58962510-59388525	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 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	chr5:59160800-59189000	Weak transcription	Aorta	Aorta
2	chr5:59164800-59172000	Enhancers	HSMM	muscle
3	chr5:59165000-59171000	Enhancers	HSMMtube	muscle
4	chr5:59166000-59168800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:59166000-59169000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:59167000-59172400	Enhancers	Hela-S3	cervix
7	chr5:59167200-59171000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr5:59167600-59171200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr5:59167800-59169400	Enhancers	NHLF	lung
10	chr5:59167800-59171200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:59168000-59169000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:59168000-59169200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:59168000-59170800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:59168200-59171000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:59168400-59169000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:59168400-59169400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:59168400-59169600	Enhancers	A549	lung
18	chr5:59168600-59169400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:59168600-59169400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr5:59168600-59169800	Enhancers	NHDF-Ad	bronchial
21	chr5:59168600-59170800	Enhancers	NH-A	brain

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