Variant report

Variant	rs17658809
Chromosome Location	chr4:143339222-143339223
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10428305	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1155075	0.90[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs11723890	0.82[GIH][hapmap]
rs11945935	0.84[AMR][1000 genomes]
rs12499068	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1353624	0.87[GIH][hapmap]
rs1391092	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1497390	0.90[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs1497391	0.95[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs1497393	0.96[CEU][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap];0.80[TSI][hapmap]
rs1497396	0.96[CEU][hapmap];0.94[JPT][hapmap]
rs1565307	0.83[JPT][hapmap]
rs2200841	0.96[CEU][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap];0.80[TSI][hapmap]
rs2840094	0.86[ASN][1000 genomes]
rs3756125	0.90[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs3775719	0.85[ASN][1000 genomes]
rs62328324	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6842192	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs7666932	0.96[CEU][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap]
rs931636	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs977617	0.94[CEU][hapmap];0.88[JPT][hapmap]

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	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143329000-143350000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:143330200-143344800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:143336000-143341000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:143336200-143340800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:143337000-143339400	Enhancers	HMEC	breast
6	chr4:143338000-143341200	Enhancers	Fetal Heart	heart
7	chr4:143338400-143340800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:143338400-143341000	Weak transcription	HSMM	muscle
9	chr4:143338600-143340400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:143338600-143341000	Weak transcription	HUVEC	blood vessel
11	chr4:143338600-143342000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr4:143338600-143344800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:143338600-143348800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr4:143338600-143366600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:143339000-143340000	Weak transcription	Left Ventricle	heart
16	chr4:143339000-143340200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr4:143339000-143341800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:143339000-143355400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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