Variant report

Variant	rs4680222
Chromosome Location	chr3:155660576-155660577
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:155655075..155657937-chr3:155660507..155663290,2	K562	blood:
2	chr3:155659879..155663978-chr3:155664287..155669186,7	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10936021	0.84[AFR][1000 genomes]
rs10936022	0.81[ASN][1000 genomes]
rs11712694	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12634282	0.80[AFR][1000 genomes]
rs12636569	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12638792	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12638836	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1356252	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1711084	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs1878211	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2067877	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2320318	0.93[EUR][1000 genomes]
rs28438758	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2874232	0.82[AFR][1000 genomes]
rs3772112	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs401514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs406701	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs445758	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4679757	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4679758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs519400	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60788059	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6441022	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6441023	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6766927	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6775044	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6777776	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6797289	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6806109	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs819844	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs819854	0.81[ASN][1000 genomes]
rs819858	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs843931	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs847800	0.86[ASN][1000 genomes]
rs965034	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9820534	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9825321	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9846097	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9866164	0.87[ASN][1000 genomes]
rs9875112	0.87[EUR][1000 genomes]
rs9883153	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877680	chr3:155438022-155723064	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2753744	chr3:155487298-155707298	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155590200-155667400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:155607400-155669000	Weak transcription	Pancreas	Pancrea
3	chr3:155633800-155668200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:155634600-155660600	Weak transcription	Stomach Mucosa	stomach
5	chr3:155635800-155664400	Weak transcription	Gastric	stomach
6	chr3:155639600-155664400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:155639600-155671000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:155644000-155663600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:155644000-155666800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:155644200-155662000	Weak transcription	Brain Germinal Matrix	brain
11	chr3:155644200-155665200	Weak transcription	Fetal Stomach	stomach
12	chr3:155646200-155665200	Weak transcription	Fetal Intestine Small	intestine
13	chr3:155648400-155661800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:155648400-155663000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:155648600-155661000	Strong transcription	Dnd41	blood
16	chr3:155649000-155667400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:155652600-155661000	Weak transcription	Fetal Heart	heart
18	chr3:155653200-155662200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:155654200-155675800	Weak transcription	NHEK	skin
20	chr3:155655200-155661200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr3:155655200-155663600	Weak transcription	HSMMtube	muscle
22	chr3:155655200-155666800	Weak transcription	Lung	lung
23	chr3:155655200-155667600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr3:155655400-155662600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr3:155655800-155664200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:155656000-155667200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr3:155656200-155670400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr3:155656400-155661000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr3:155656400-155661000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:155656400-155661000	Weak transcription	Fetal Brain Female	brain
31	chr3:155656400-155661400	Weak transcription	Thymus	Thymus
32	chr3:155656400-155661800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr3:155656400-155664400	Weak transcription	Fetal Muscle Leg	muscle
34	chr3:155656600-155661400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr3:155656600-155661600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr3:155656600-155663200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:155656600-155663600	Weak transcription	NHDF-Ad	bronchial
38	chr3:155656600-155664400	Weak transcription	Aorta	Aorta
39	chr3:155656600-155667000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr3:155656800-155661000	Weak transcription	Brain Substantia Nigra	brain
41	chr3:155656800-155663600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:155656800-155663800	Weak transcription	NH-A	brain
43	chr3:155657000-155661000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr3:155657000-155661000	Weak transcription	Fetal Intestine Large	intestine
45	chr3:155657000-155662400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:155657000-155663600	Weak transcription	Osteobl	bone
47	chr3:155657000-155664400	Weak transcription	Left Ventricle	heart
48	chr3:155657000-155666800	Weak transcription	Ovary	ovary
49	chr3:155657000-155667200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:155657000-155667200	Weak transcription	Rectal Mucosa Donor 29	rectum

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