Variant report

Variant	rs8077504
Chromosome Location	chr17:66970369-66970370
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1001239	1.00[CEU][hapmap]
rs10512522	1.00[CHD][hapmap]
rs12103695	1.00[CHD][hapmap]
rs1541469	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap]
rs16967340	0.87[GIH][hapmap]
rs16973446	1.00[CHD][hapmap]
rs16973452	1.00[CHD][hapmap]
rs1860448	0.87[GIH][hapmap]
rs1984722	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap]
rs2109227	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4968994	0.87[GIH][hapmap]
rs7212490	0.87[GIH][hapmap]
rs7221250	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap]
rs7222838	1.00[CHD][hapmap]
rs8066118	1.00[CEU][hapmap];0.88[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8067175	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8067334	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8069055	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8070147	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8072153	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8073997	1.00[CEU][hapmap]
rs9893173	1.00[CHD][hapmap]
rs9899818	1.00[CHD][hapmap]
rs9915531	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1061151	chr17:66881617-66973917	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv908700	chr17:66885526-66985992	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv908701	chr17:66888346-66978319	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv1849165	chr17:66899261-66978319	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv908703	chr17:66904001-66978319	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66965600-66973200	Weak transcription	Brain Substantia Nigra	brain
2	chr17:66965600-66977600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr17:66965600-66980200	Weak transcription	Brain Anterior Caudate	brain
4	chr17:66965600-66986000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr17:66966200-66977200	Weak transcription	Fetal Muscle Leg	muscle
6	chr17:66966800-66972000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr17:66968200-66971800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr17:66968400-66972600	Weak transcription	Fetal Lung	lung
9	chr17:66968400-66977200	Weak transcription	NHDF-Ad	bronchial
10	chr17:66969200-66970400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr17:66969200-66971200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr17:66969200-66982800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr17:66969400-66972400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr17:66969600-66971200	Weak transcription	Adipose Nuclei	Adipose
15	chr17:66969600-66971200	Weak transcription	Liver	Liver
16	chr17:66969600-66971200	Weak transcription	Ovary	ovary
17	chr17:66969600-66977200	Weak transcription	HepG2	liver
18	chr17:66969800-66971800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr17:66970000-66973600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr17:66970200-66974200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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