Variant report

Variant	rs4680223
Chromosome Location	chr3:155666741-155666742
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	chr3:155659879..155663978-chr3:155664287..155669186,7	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10804773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10804774	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10936020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1131925	0.91[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs11706359	0.92[CEU][hapmap]
rs11714133	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13059611	0.82[ASN][1000 genomes]
rs13065994	0.81[AMR][1000 genomes]
rs13091683	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13096499	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2054878	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2063903	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2200707	0.81[CEU][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes]
rs34337666	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35321137	0.94[ASN][1000 genomes]
rs35472369	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs358703	0.82[CEU][hapmap]
rs3772115	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3772116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3821365	0.93[ASN][1000 genomes]
rs4680219	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6441028	1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs66509404	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6763830	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6799267	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6804740	0.85[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs6809229	0.96[CEU][hapmap];0.86[JPT][hapmap]
rs7619976	0.90[ASN][1000 genomes]
rs7629523	0.81[CEU][hapmap];0.87[CHB][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7633168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7643630	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7651038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7652005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs965035	0.86[AMR][1000 genomes];0.83[ASN][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	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
3	esv2111719	chr3:155666405-155666803	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:45 , 50 per page) page: 1

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	chr3:155639600-155671000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:155644000-155666800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:155649000-155667400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:155654200-155675800	Weak transcription	NHEK	skin
8	chr3:155655200-155666800	Weak transcription	Lung	lung
9	chr3:155655200-155667600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:155656000-155667200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr3:155656200-155670400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr3:155656600-155667000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:155657000-155666800	Weak transcription	Ovary	ovary
14	chr3:155657000-155667200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:155657000-155667200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr3:155657200-155668200	Weak transcription	K562	blood
17	chr3:155657200-155669000	Weak transcription	Fetal Lung	lung
18	chr3:155657200-155678200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:155657600-155667200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr3:155658000-155667000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr3:155658200-155668200	Weak transcription	Placenta	Placenta
22	chr3:155658600-155667400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr3:155659600-155668800	Weak transcription	Fetal Thymus	thymus
24	chr3:155659800-155666800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr3:155659800-155668800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr3:155659800-155669400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:155659800-155678800	Weak transcription	A549	lung
28	chr3:155660000-155666800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr3:155660400-155688000	Weak transcription	Hela-S3	cervix
30	chr3:155663600-155667400	Enhancers	NHDF-Ad	bronchial
31	chr3:155663600-155676200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:155664200-155679200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:155664400-155679200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:155664600-155670000	Weak transcription	NHLF	lung
35	chr3:155664600-155676400	Weak transcription	HSMMtube	muscle
36	chr3:155664600-155677400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr3:155664600-155677600	Weak transcription	HSMM	muscle
38	chr3:155664600-155681200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:155664800-155667400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:155665600-155675800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:155666000-155667400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:155666200-155667600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:155666400-155666800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:155666600-155667000	Enhancers	Osteobl	bone
45	chr3:155666600-155668000	Enhancers	HUES64 Cell Line	embryonic stem cell

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