Variant report

Variant	rs7675688
Chromosome Location	chr4:86680318-86680319
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1031987	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11722392	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11731040	0.82[EUR][1000 genomes]
rs12644984	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12646641	0.82[EUR][1000 genomes]
rs12647014	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12648692	0.82[EUR][1000 genomes]
rs12650494	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13112493	0.99[ASN][1000 genomes]
rs13123125	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1482091	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1482092	0.93[ASN][1000 genomes]
rs1482095	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17010599	0.82[EUR][1000 genomes]
rs17010697	0.86[ASN][1000 genomes]
rs17010839	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2624023	0.93[ASN][1000 genomes]
rs343848	0.93[ASN][1000 genomes]
rs343852	0.94[ASN][1000 genomes]
rs41477846	0.88[ASN][1000 genomes]
rs4455406	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56989679	0.99[ASN][1000 genomes]
rs57065351	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6531862	0.89[ASN][1000 genomes]
rs6531863	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6839040	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6853196	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6855390	0.91[ASN][1000 genomes]
rs72656252	0.89[ASN][1000 genomes]
rs72656285	0.99[ASN][1000 genomes]
rs7661884	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7682971	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7685320	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7697134	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv879517	chr4:86677107-86739805	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86663400-86699800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:86666000-86682400	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr4:86670400-86683600	Weak transcription	HSMMtube	muscle
4	chr4:86670600-86680400	Weak transcription	HUVEC	blood vessel
5	chr4:86671600-86681800	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:86673400-86680600	Weak transcription	NHDF-Ad	bronchial
7	chr4:86673400-86682400	Weak transcription	Spleen	Spleen
8	chr4:86673400-86683400	Weak transcription	HSMM	muscle
9	chr4:86673600-86681800	Weak transcription	Right Ventricle	heart
10	chr4:86673600-86683800	Weak transcription	Left Ventricle	heart
11	chr4:86674800-86685400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:86676200-86680600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:86676200-86683000	Weak transcription	Colon Smooth Muscle	Colon
14	chr4:86676400-86682800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:86676600-86680400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:86676600-86681800	Weak transcription	Adipose Nuclei	Adipose
17	chr4:86676600-86681800	Weak transcription	Pancreas	Pancrea
18	chr4:86676600-86682800	Weak transcription	Brain Anterior Caudate	brain
19	chr4:86676800-86682200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr4:86676800-86697800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr4:86678200-86680400	Weak transcription	Osteobl	bone
22	chr4:86678200-86680600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:86678200-86680600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:86678200-86682800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:86678200-86685200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:86678400-86682800	Weak transcription	Right Atrium	heart
27	chr4:86679000-86684600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr4:86679800-86681000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:86680000-86680600	Weak transcription	Primary B cells from cord blood	blood
30	chr4:86680000-86682000	Weak transcription	Fetal Brain Male	brain

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