Variant report

Variant	rs4263359
Chromosome Location	chr4:87638364-87638365
allele	C/T
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:34)

rs_ID	r²[population]
rs10016074	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10019950	0.91[ASN][1000 genomes]
rs1021101	0.81[EUR][1000 genomes]
rs1035191	0.87[ASN][1000 genomes]
rs10516778	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11561681	0.82[AMR][1000 genomes]
rs12331502	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12503659	0.90[ASN][1000 genomes]
rs12510802	0.87[ASN][1000 genomes]
rs13113689	0.87[ASN][1000 genomes]
rs1420621	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17012072	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17420607	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17420966	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17454154	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17454662	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17694112	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2006842	0.87[ASN][1000 genomes]
rs2054592	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2054593	0.91[ASN][1000 genomes]
rs2230600	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2287147	0.82[AMR][1000 genomes]
rs3775236	0.90[ASN][1000 genomes]
rs3775238	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3775239	0.94[ASN][1000 genomes]
rs4693150	0.80[AMR][1000 genomes]
rs4693780	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4693784	0.82[AMR][1000 genomes]
rs55670248	0.82[AMR][1000 genomes]
rs57954319	0.87[ASN][1000 genomes]
rs67867077	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72665791	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72665795	0.80[AMR][1000 genomes]
rs969734	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1012836	chr4:87279206-87643558	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv2757071	chr4:87417291-87689533	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	esv2759264	chr4:87417291-87689533	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv879522	chr4:87473776-87644842	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv830001	chr4:87585278-87748643	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv508296	chr4:87636350-87667372	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87574600-87644400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:87579200-87642600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:87579400-87644400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:87586400-87643200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:87591800-87639000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:87591800-87641000	Weak transcription	Brain Anterior Caudate	brain
7	chr4:87592400-87656400	Weak transcription	Adipose Nuclei	Adipose
8	chr4:87593800-87641400	Weak transcription	Brain Angular Gyrus	brain
9	chr4:87594400-87642600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:87594400-87659800	Weak transcription	Ovary	ovary
11	chr4:87594800-87639200	Weak transcription	Fetal Kidney	kidney
12	chr4:87595200-87651200	Weak transcription	Fetal Stomach	stomach
13	chr4:87600400-87639200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:87606800-87641000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr4:87610400-87639600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr4:87623400-87641200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr4:87623400-87641200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:87623400-87643000	Weak transcription	Fetal Lung	lung
19	chr4:87623600-87639400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:87624800-87638600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:87625200-87651600	Weak transcription	Esophagus	oesophagus
22	chr4:87625400-87643400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:87628800-87641600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:87628800-87641800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:87631200-87712200	Weak transcription	Aorta	Aorta
26	chr4:87634200-87640000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:87635200-87641800	Weak transcription	NHLF	lung
28	chr4:87635200-87737400	Weak transcription	Fetal Brain Male	brain
29	chr4:87635400-87648200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:87635600-87651600	Weak transcription	Lung	lung
31	chr4:87636400-87639600	Strong transcription	NHDF-Ad	bronchial
32	chr4:87636400-87639800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:87636400-87641200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:87636400-87641200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:87636400-87644600	Weak transcription	Fetal Intestine Small	intestine
36	chr4:87636400-87683800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr4:87636600-87639000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:87636600-87641000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:87636800-87643400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr4:87637000-87639000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:87637200-87638800	Weak transcription	NHEK	skin
42	chr4:87637200-87640600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:87637200-87640800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:87637200-87661200	Weak transcription	Pancreas	Pancrea
45	chr4:87638000-87640200	Strong transcription	HMEC	breast
46	chr4:87638200-87638600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:87638200-87639400	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr4:87638200-87639600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:87638200-87639800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr4:87638200-87641600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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