Variant report

Variant	rs62080888
Chromosome Location	chr17:67289544-67289545
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	chr17:67289223..67292742-chr17:67297917..67300838,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154265	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11544715	0.87[EUR][1000 genomes]
rs11871086	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13313572	0.97[EUR][1000 genomes]
rs1345462	0.95[EUR][1000 genomes]
rs1420905	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17686569	1.00[EUR][1000 genomes]
rs17759819	1.00[EUR][1000 genomes]
rs1992741	0.97[EUR][1000 genomes]
rs477045	1.00[EUR][1000 genomes]
rs536009	0.95[EUR][1000 genomes]
rs57758461	0.97[EUR][1000 genomes]
rs62080893	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67740186	0.87[EUR][1000 genomes]
rs8064431	0.88[EUR][1000 genomes]
rs9907148	0.97[EUR][1000 genomes]
rs9907847	0.97[EUR][1000 genomes]
rs9909726	0.97[EUR][1000 genomes]
rs997639	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv575932	chr17:67149973-67327806	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv457889	chr17:67210992-67332355	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
3	nsv575934	chr17:67210992-67332355	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
4	nsv833527	chr17:67240575-67400871	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv575935	chr17:67256162-67327806	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
6	nsv457890	chr17:67264339-67327806	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
7	nsv575936	chr17:67264339-67327806	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
8	nsv1063768	chr17:67268342-67311136	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
9	esv1799828	chr17:67280310-67309039	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67236800-67298800	Weak transcription	Psoas Muscle	Psoas
2	chr17:67240000-67296000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr17:67243600-67305600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr17:67244000-67321800	Weak transcription	Right Ventricle	heart
5	chr17:67261400-67322000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr17:67265000-67289800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr17:67266200-67290000	Weak transcription	Fetal Heart	heart
8	chr17:67266200-67310400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr17:67268600-67295400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr17:67270200-67307400	Weak transcription	Colonic Mucosa	Colon
11	chr17:67270600-67289600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr17:67271000-67298600	Weak transcription	Fetal Lung	lung
13	chr17:67271400-67296000	Weak transcription	Fetal Kidney	kidney
14	chr17:67272400-67306400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr17:67276400-67310600	Weak transcription	Brain Substantia Nigra	brain
16	chr17:67276600-67308800	Weak transcription	Aorta	Aorta
17	chr17:67277600-67293600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr17:67277800-67297000	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr17:67278000-67292000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr17:67278200-67297600	Weak transcription	Brain Hippocampus Middle	brain
21	chr17:67278400-67291000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr17:67279400-67308000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr17:67279600-67306400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr17:67279800-67293600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr17:67280000-67307200	Weak transcription	Fetal Thymus	thymus
26	chr17:67283600-67297800	Weak transcription	Stomach Mucosa	stomach
27	chr17:67283600-67304800	Weak transcription	NHDF-Ad	bronchial
28	chr17:67283800-67312800	Weak transcription	HMEC	breast
29	chr17:67284000-67291400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr17:67284000-67312800	Weak transcription	NHEK	skin
31	chr17:67284200-67301800	Weak transcription	Small Intestine	intestine
32	chr17:67284600-67309200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr17:67285000-67316200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr17:67286200-67297000	Weak transcription	Placenta	Placenta
35	chr17:67286600-67290200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr17:67286800-67290200	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr17:67287000-67293000	Weak transcription	Fetal Brain Male	brain
38	chr17:67287600-67289800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr17:67288000-67290200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr17:67288000-67291800	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr17:67288200-67297200	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr17:67288400-67290000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr17:67288400-67299200	Weak transcription	Fetal Intestine Small	intestine
44	chr17:67288600-67290000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr17:67288600-67290200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr17:67288600-67290600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr17:67288800-67289600	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr17:67288800-67289800	Strong transcription	HUVEC	blood vessel
49	chr17:67288800-67290800	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr17:67288800-67291800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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