Variant report

Variant	rs62082731
Chromosome Location	chr17:67094509-67094510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:67087494..67092191-chr17:67094325..67097858,5	K562	blood:

Variant related genes	Relation type
ENSG00000267361	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1014235	1.00[ASN][1000 genomes]
rs11868981	1.00[ASN][1000 genomes]
rs17776227	1.00[ASN][1000 genomes]
rs34343155	1.00[ASN][1000 genomes]
rs56242200	1.00[ASN][1000 genomes]
rs62080889	1.00[ASN][1000 genomes]
rs62082718	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62082733	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72850819	1.00[ASN][1000 genomes]
rs72853630	1.00[ASN][1000 genomes]

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	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	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv908705	chr17:67061898-67112456	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
5	esv1850212	chr17:67081732-67117428	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv470598	chr17:67081830-67212595	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67067200-67099600	Weak transcription	Gastric	stomach
2	chr17:67067200-67111600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr17:67076800-67109800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr17:67077800-67137800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr17:67079400-67095600	Weak transcription	Psoas Muscle	Psoas
6	chr17:67079400-67112200	Strong transcription	Liver	Liver
7	chr17:67079400-67112600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr17:67079400-67117600	Weak transcription	Esophagus	oesophagus
9	chr17:67079600-67101200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr17:67079600-67114200	Weak transcription	NHDF-Ad	bronchial
11	chr17:67080800-67112000	Weak transcription	Brain Substantia Nigra	brain
12	chr17:67081200-67102000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr17:67081400-67095000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr17:67081400-67118600	Weak transcription	Right Ventricle	heart
15	chr17:67082200-67114400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr17:67085800-67099600	Weak transcription	Lung	lung
17	chr17:67087000-67114600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr17:67087000-67130400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr17:67089600-67097200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr17:67089800-67095800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr17:67089800-67102200	Weak transcription	GM12878-XiMat	blood
22	chr17:67090400-67110000	Strong transcription	Adipose Nuclei	Adipose
23	chr17:67091200-67131400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr17:67091600-67095400	Weak transcription	Fetal Muscle Leg	muscle
25	chr17:67091600-67104400	Weak transcription	Left Ventricle	heart
26	chr17:67091600-67130000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr17:67092200-67095000	Weak transcription	K562	blood
28	chr17:67092200-67095200	Weak transcription	Fetal Lung	lung
29	chr17:67092200-67095600	Weak transcription	Ovary	ovary
30	chr17:67092200-67137600	Weak transcription	Brain Anterior Caudate	brain
31	chr17:67093400-67095000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr17:67093400-67095600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr17:67094000-67094600	Enhancers	HepG2	liver
34	chr17:67094400-67094600	Enhancers	Primary B cells from cord blood	blood
35	chr17:67094400-67095000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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