Variant report

Variant	rs62082736
Chromosome Location	chr17:67142616-67142617
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:67142567-67142718	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ABCA6	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2886232	0.84[EUR][1000 genomes]
rs4968840	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4968845	0.84[EUR][1000 genomes]
rs8070232	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	nsv575930	chr17:67120025-67212031	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv960211	chr17:67138815-67144978	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67096200-67143400	Weak transcription	Psoas Muscle	Psoas
2	chr17:67101200-67143400	Weak transcription	Pancreas	Pancrea
3	chr17:67114600-67162800	Weak transcription	Brain Angular Gyrus	brain
4	chr17:67124800-67150000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr17:67127000-67143400	Weak transcription	Fetal Intestine Large	intestine
6	chr17:67127000-67150600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr17:67130600-67146200	Weak transcription	Lung	lung
8	chr17:67132000-67151600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr17:67133800-67145600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr17:67134400-67143400	Weak transcription	Left Ventricle	heart
11	chr17:67134600-67145000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr17:67138000-67154000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr17:67138200-67143400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr17:67138200-67150600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr17:67138200-67151200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr17:67138200-67151600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr17:67138200-67152200	Weak transcription	Fetal Muscle Leg	muscle
18	chr17:67138600-67147800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr17:67138600-67155400	Weak transcription	Brain Anterior Caudate	brain
20	chr17:67138800-67152000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr17:67138800-67162800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr17:67138800-67182000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr17:67139200-67143400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr17:67140200-67143600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr17:67140200-67154000	Weak transcription	Fetal Lung	lung
26	chr17:67141400-67144800	Weak transcription	Liver	Liver
27	chr17:67141600-67155400	Weak transcription	Colon Smooth Muscle	Colon
28	chr17:67141800-67143400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr17:67141800-67143600	Weak transcription	Ovary	ovary
30	chr17:67141800-67144200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr17:67141800-67171800	Weak transcription	GM12878-XiMat	blood
32	chr17:67142000-67143200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr17:67142000-67143400	Weak transcription	Adipose Nuclei	Adipose
34	chr17:67142000-67143800	Weak transcription	Osteobl	bone
35	chr17:67142000-67148800	Weak transcription	NHDF-Ad	bronchial
36	chr17:67142200-67152400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr17:67142400-67144800	Weak transcription	Thymus	Thymus
38	chr17:67142400-67151000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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