Variant report

Variant	rs62069953
Chromosome Location	chr17:15389632-15389633
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15389468..15391783-chr17:15396461..15398192,2	K562	blood:
2	chr17:15379181..15381782-chr17:15389609..15392275,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11651787	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11653403	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1465251	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1465252	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2052022	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28411195	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28733269	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3865257	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4572441	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55749051	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62072569	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62072571	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62072578	0.83[EUR][1000 genomes]
rs716389	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7211982	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8076852	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9899922	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9901383	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9903674	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9908651	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9911005	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9911822	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9913509	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv949172	chr17:15206970-15416808	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv1058286	chr17:15315763-15561130	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv543213	chr17:15315763-15561130	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15340600-15399600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr17:15359200-15404600	Weak transcription	Primary T cells from cord blood	blood
3	chr17:15367400-15394200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr17:15368000-15393600	Weak transcription	Aorta	Aorta
5	chr17:15368400-15405400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr17:15368800-15394000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr17:15369000-15393600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr17:15369000-15401600	Weak transcription	Brain Germinal Matrix	brain
9	chr17:15369200-15405000	Weak transcription	Esophagus	oesophagus
10	chr17:15373200-15393600	Weak transcription	Brain Hippocampus Middle	brain
11	chr17:15373200-15393600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr17:15377200-15394200	Weak transcription	Stomach Mucosa	stomach
13	chr17:15377400-15406400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr17:15377600-15393800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr17:15378800-15391200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr17:15379400-15393600	Weak transcription	HSMMtube	muscle
17	chr17:15379400-15393600	Weak transcription	Osteobl	bone
18	chr17:15379600-15393800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr17:15380200-15393400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr17:15382800-15394400	Weak transcription	Spleen	Spleen
21	chr17:15383200-15419600	Weak transcription	Thymus	Thymus
22	chr17:15383400-15390800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:15383400-15391000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:15383400-15393400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:15383400-15393400	Weak transcription	Right Ventricle	heart
26	chr17:15383400-15394000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr17:15383400-15402200	Weak transcription	A549	lung
28	chr17:15383400-15455000	Weak transcription	Gastric	stomach
29	chr17:15383600-15393600	Weak transcription	Brain Anterior Caudate	brain
30	chr17:15383600-15393600	Weak transcription	NH-A	brain
31	chr17:15383600-15393800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr17:15383600-15393800	Weak transcription	NHLF	lung
33	chr17:15383600-15395800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr17:15383800-15393600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr17:15383800-15393600	Weak transcription	HSMM	muscle
36	chr17:15383800-15393800	Weak transcription	Colon Smooth Muscle	Colon
37	chr17:15383800-15394200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr17:15383800-15398400	Weak transcription	Fetal Kidney	kidney
39	chr17:15383800-15401400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr17:15383800-15405200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr17:15383800-15406000	Weak transcription	NHEK	skin
42	chr17:15384000-15393600	Weak transcription	Hela-S3	cervix
43	chr17:15384200-15393600	Weak transcription	Brain Substantia Nigra	brain
44	chr17:15384400-15394000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr17:15384600-15389800	Strong transcription	Fetal Intestine Small	intestine
46	chr17:15384600-15406200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr17:15385400-15395800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr17:15385600-15391800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr17:15385600-15418000	Weak transcription	Pancreas	Pancrea
50	chr17:15385800-15393600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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