Variant report

Variant	rs1242505
Chromosome Location	chr17:17366977-17366978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11652200	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1242490	0.82[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1242491	0.82[EUR][1000 genomes]
rs1242493	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1242498	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.92[TSI][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1242499	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1242500	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1242501	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1242502	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1242503	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1242506	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1242510	0.83[EUR][1000 genomes]
rs1242511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1242514	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1242515	0.82[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1242517	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1242518	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1263507	0.94[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1263509	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1269402	0.86[MEX][hapmap]
rs12938634	0.84[ASN][1000 genomes]
rs2232831	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2660836	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2694920	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2694926	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2694927	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28435349	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4479310	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs4646410	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs4924755	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs4924868	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4924877	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4924890	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4924891	0.82[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs711352	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7219976	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7220132	0.82[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7220217	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8074074	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs8074191	0.80[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065710	chr17:17328111-17391443	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv907729	chr17:17338536-17425279	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv907730	chr17:17358004-17415217	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv827909	chr17:17358945-17394331	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17354800-17368000	Weak transcription	Fetal Thymus	thymus
2	chr17:17363600-17371000	Weak transcription	Pancreas	Pancrea
3	chr17:17363600-17380000	Weak transcription	Right Atrium	heart
4	chr17:17363800-17367400	Weak transcription	Brain Angular Gyrus	brain
5	chr17:17363800-17380200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:17365200-17367000	Enhancers	Fetal Intestine Small	intestine
7	chr17:17365200-17367600	Enhancers	Fetal Intestine Large	intestine
8	chr17:17366000-17370800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr17:17366000-17371000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr17:17366200-17367200	Enhancers	HepG2	liver
11	chr17:17366600-17367600	Enhancers	Brain Substantia Nigra	brain
12	chr17:17366600-17367800	Enhancers	Brain Cingulate Gyrus	brain
13	chr17:17366800-17367000	Enhancers	Brain Anterior Caudate	brain
14	chr17:17366800-17367800	Enhancers	Brain Inferior Temporal Lobe	brain

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