Variant report

Variant	rs62062530
Chromosome Location	chr17:63102563-63102564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:63101310..63103493-chr17:63108263..63110004,2	K562	blood:
2	chr17:62965395..62967905-chr17:63101570..63104162,3	MCF-7	breast:
3	chr17:63100401..63103168-chr17:63151819..63153531,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs390970	0.93[ASN][1000 genomes]
rs413223	0.93[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	nsv1066765	chr17:62649313-63124303	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv575872	chr17:63084995-63111452	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv112229	chr17:63095123-63104894	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv110410	chr17:63102561-63102564	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63097400-63102600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:63097400-63112000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:63097600-63102600	Weak transcription	Gastric	stomach
4	chr17:63097600-63102600	Weak transcription	Stomach Mucosa	stomach
5	chr17:63097600-63111800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr17:63097800-63102600	Weak transcription	A549	lung
7	chr17:63097800-63107000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr17:63097800-63107400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr17:63097800-63112200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr17:63099200-63104400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr17:63099400-63104200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr17:63100400-63102600	Enhancers	Stomach Smooth Muscle	stomach
13	chr17:63100600-63104400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:63100800-63102600	Weak transcription	Hela-S3	cervix
15	chr17:63101000-63102600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr17:63101000-63102600	Weak transcription	Ovary	ovary
17	chr17:63101400-63103200	Enhancers	Fetal Muscle Trunk	muscle
18	chr17:63101600-63103400	Enhancers	Brain Anterior Caudate	brain
19	chr17:63101600-63103400	Enhancers	Fetal Stomach	stomach
20	chr17:63101800-63102600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr17:63101800-63102600	Enhancers	Colon Smooth Muscle	Colon
22	chr17:63101800-63102600	Enhancers	Fetal Thymus	thymus
23	chr17:63101800-63103200	Enhancers	Pancreas	Pancrea
24	chr17:63101800-63103400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr17:63101800-63103400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr17:63101800-63104000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr17:63101800-63104200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr17:63101800-63104200	Enhancers	Brain Germinal Matrix	brain
29	chr17:63102000-63102600	Enhancers	Adipose Nuclei	Adipose
30	chr17:63102000-63102600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr17:63102000-63102600	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr17:63102000-63102600	Enhancers	Fetal Brain Female	brain
33	chr17:63102000-63102600	Enhancers	Osteobl	bone
34	chr17:63102000-63103000	Enhancers	Colonic Mucosa	Colon
35	chr17:63102000-63103000	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr17:63102000-63103400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr17:63102000-63103800	Enhancers	Fetal Brain Male	brain
38	chr17:63102200-63102600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr17:63102200-63102600	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr17:63102200-63102600	Flanking Active TSS	Fetal Lung	lung
41	chr17:63102200-63102800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
42	chr17:63102200-63102800	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr17:63102200-63103000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr17:63102200-63103200	Enhancers	Duodenum Mucosa	Duodenum
45	chr17:63102200-63103400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr17:63102200-63103400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr17:63102200-63103400	Enhancers	Fetal Heart	heart
48	chr17:63102200-63103400	Enhancers	Spleen	Spleen
49	chr17:63102200-63103400	Enhancers	NH-A	brain
50	chr17:63102200-63103400	Enhancers	NHLF	lung

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