Variant report

Variant	rs346517
Chromosome Location	chr4:86844175-86844176
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10006104	0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10018236	0.96[ASN][1000 genomes]
rs10026288	0.95[ASN][1000 genomes]
rs1027942	0.87[EUR][1000 genomes]
rs11097082	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11930286	0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12651053	0.83[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs13121761	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17011166	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17011185	0.95[ASN][1000 genomes]
rs186969	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28713621	0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2904084	0.92[EUR][1000 genomes]
rs346509	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs346510	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs346513	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs346516	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs346520	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs346521	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6531876	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs6810816	0.94[ASN][1000 genomes]
rs6811531	0.94[ASN][1000 genomes]
rs6824722	0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7654702	0.96[ASN][1000 genomes]
rs7663884	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7664621	0.87[EUR][1000 genomes]
rs7685704	0.96[ASN][1000 genomes]
rs7685851	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7693039	0.96[ASN][1000 genomes]
rs9307013	0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs958887	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830000	chr4:86745341-86909059	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv879519	chr4:86786204-86871282	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv2753470	chr4:86804078-86844350	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv879520	chr4:86829529-86918232	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86791200-86844400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:86808200-86846000	Weak transcription	HUVEC	blood vessel
3	chr4:86826800-86845400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:86827600-86850600	Weak transcription	Spleen	Spleen
5	chr4:86831200-86851000	Weak transcription	Aorta	Aorta
6	chr4:86836000-86848800	Weak transcription	Fetal Kidney	kidney
7	chr4:86839200-86846000	Weak transcription	HSMM	muscle
8	chr4:86839800-86844200	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:86840600-86849800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:86841400-86844800	Weak transcription	NHDF-Ad	bronchial
11	chr4:86841400-86849400	Weak transcription	A549	lung
12	chr4:86841600-86848800	Weak transcription	Stomach Mucosa	stomach
13	chr4:86842800-86844600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:86843000-86849200	Weak transcription	Left Ventricle	heart
15	chr4:86843000-86850600	Weak transcription	Psoas Muscle	Psoas
16	chr4:86843200-86849000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr4:86843200-86849200	Weak transcription	Pancreas	Pancrea
18	chr4:86843200-86849600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:86843200-86850000	Weak transcription	HSMMtube	muscle
20	chr4:86843200-86852400	Weak transcription	Esophagus	oesophagus
21	chr4:86843400-86845000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr4:86843800-86847000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr4:86843800-86848600	Strong transcription	Primary B cells from cord blood	blood
24	chr4:86844000-86844200	Enhancers	Fetal Muscle Trunk	muscle
25	chr4:86844000-86844400	Enhancers	Gastric	stomach

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