Variant report

Variant	rs62305508
Chromosome Location	chr4:86848953-86848954
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10006487	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10009525	0.92[EUR][1000 genomes]
rs10028816	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28440876	0.92[EUR][1000 genomes]
rs28509253	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2869407	0.92[EUR][1000 genomes]
rs346497	0.89[ASN][1000 genomes]
rs35017635	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3806763	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60376563	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62305506	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305507	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62315531	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62315532	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62315533	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6531878	0.94[EUR][1000 genomes]
rs6531881	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6531883	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6531884	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6820289	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6820395	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6825260	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7670778	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7693059	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7696763	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9790784	0.92[EUR][1000 genomes]

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	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	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86827600-86850600	Weak transcription	Spleen	Spleen
2	chr4:86831200-86851000	Weak transcription	Aorta	Aorta
3	chr4:86840600-86849800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:86841400-86849400	Weak transcription	A549	lung
5	chr4:86843000-86849200	Weak transcription	Left Ventricle	heart
6	chr4:86843000-86850600	Weak transcription	Psoas Muscle	Psoas
7	chr4:86843200-86849000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr4:86843200-86849200	Weak transcription	Pancreas	Pancrea
9	chr4:86843200-86849600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:86843200-86850000	Weak transcription	HSMMtube	muscle
11	chr4:86843200-86852400	Weak transcription	Esophagus	oesophagus
12	chr4:86844400-86853800	Weak transcription	Gastric	stomach
13	chr4:86844800-86850600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:86845000-86849200	Weak transcription	Adipose Nuclei	Adipose
15	chr4:86845000-86849800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:86845400-86849200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr4:86845600-86849000	Weak transcription	Fetal Lung	lung
18	chr4:86845600-86850800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:86845800-86850000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr4:86846000-86849800	Weak transcription	Osteobl	bone
21	chr4:86846000-86850000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:86846000-86850200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:86846400-86851000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr4:86846600-86849200	Weak transcription	NHDF-Ad	bronchial
25	chr4:86846600-86850000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:86847000-86850000	Weak transcription	Fetal Muscle Leg	muscle
27	chr4:86847000-86850000	Weak transcription	HSMM	muscle
28	chr4:86847000-86853200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr4:86847400-86849200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:86847400-86850000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:86847600-86850200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr4:86847600-86850400	Weak transcription	Fetal Heart	heart
33	chr4:86848000-86850200	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr4:86848000-86850600	Enhancers	Dnd41	blood
35	chr4:86848400-86851400	Enhancers	Primary B cells from peripheral blood	blood
36	chr4:86848600-86850600	Enhancers	HUVEC	blood vessel
37	chr4:86848600-86856000	Weak transcription	Primary B cells from cord blood	blood
38	chr4:86848800-86850600	Enhancers	Fetal Kidney	kidney
39	chr4:86848800-86851000	Enhancers	Stomach Mucosa	stomach

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