Variant report

Variant	rs17714049
Chromosome Location	chr7:39642261-39642262
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	chr7:39640592..39642673-chr7:39644409..39647009,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10245247	0.96[ASN][1000 genomes]
rs10258946	1.00[ASN][1000 genomes]
rs10266149	1.00[ASN][1000 genomes]
rs10486798	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10486804	1.00[GIH][hapmap];0.85[MEX][hapmap];0.92[EUR][1000 genomes]
rs12111908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17171603	0.91[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs17171611	0.92[EUR][1000 genomes]
rs17171613	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17171617	0.92[EUR][1000 genomes]
rs17713754	0.84[ASN][1000 genomes]
rs17713951	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17770594	0.84[ASN][1000 genomes]
rs17770612	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs17770625	0.84[ASN][1000 genomes]
rs1989533	0.98[ASN][1000 genomes]
rs2066892	0.92[EUR][1000 genomes]
rs2237500	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2329455	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs2329460	0.87[ASN][1000 genomes]
rs2329461	1.00[ASN][1000 genomes]
rs2329462	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2329463	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3213655	1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs3779202	0.92[EUR][1000 genomes]
rs4723881	1.00[ASN][1000 genomes]
rs4723882	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4723883	1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4723884	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4723885	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs58299139	0.84[ASN][1000 genomes]
rs59071947	0.84[ASN][1000 genomes]
rs61493712	1.00[ASN][1000 genomes]
rs6968742	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs73375695	0.84[ASN][1000 genomes]
rs7785964	0.84[ASN][1000 genomes]
rs7796063	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021180	chr7:39424988-39642261	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1026951	chr7:39429036-39642261	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1018430	chr7:39455497-39643569	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv887970	chr7:39587912-39688152	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39632600-39646000	Weak transcription	K562	blood
2	chr7:39638400-39646400	Weak transcription	Stomach Mucosa	stomach
3	chr7:39640400-39642400	Enhancers	NHDF-Ad	bronchial
4	chr7:39640400-39642800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:39640400-39645400	Enhancers	HSMM	muscle
6	chr7:39641400-39642400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:39641600-39642400	Enhancers	HSMMtube	muscle
8	chr7:39641600-39642400	Enhancers	Osteobl	bone
9	chr7:39641600-39642800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:39641800-39642400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:39641800-39642600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:39641800-39642800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:39642000-39642400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:39642000-39642400	Enhancers	NHEK	skin
15	chr7:39642200-39642400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:39642200-39642400	Enhancers	HMEC	breast
17	chr7:39642200-39642600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:39642200-39644000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:39642200-39648200	Weak transcription	NH-A	brain

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