Variant report

Variant	rs12952721
Chromosome Location	chr17:59992556-59992557
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11652725	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11658522	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12941152	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12941827	0.86[ASN][1000 genomes]
rs55991589	0.89[ASN][1000 genomes]
rs72843743	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv916786	chr17:59890834-60103687	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59941400-60004400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:59941400-60004400	Weak transcription	Aorta	Aorta
3	chr17:59941400-60004400	Weak transcription	Pancreas	Pancrea
4	chr17:59941600-60003600	Weak transcription	Stomach Mucosa	stomach
5	chr17:59941600-60004400	Weak transcription	Colonic Mucosa	Colon
6	chr17:59942600-60002800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:59954400-60003800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr17:59959000-59996800	Weak transcription	Gastric	stomach
9	chr17:59959600-60003600	Weak transcription	Fetal Heart	heart
10	chr17:59966000-60004200	Weak transcription	Psoas Muscle	Psoas
11	chr17:59966200-59998000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr17:59974200-59993000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr17:59975400-60004600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr17:59978600-60004400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr17:59980200-60003600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr17:59982600-60001400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr17:59982600-60003600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr17:59983000-59997000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr17:59983600-60004600	Weak transcription	Spleen	Spleen
20	chr17:59984200-60003400	Weak transcription	HSMMtube	muscle
21	chr17:59985000-60004400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr17:59987800-59994400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr17:59987800-59994600	Weak transcription	Fetal Brain Male	brain
24	chr17:59987800-59995800	Weak transcription	Small Intestine	intestine
25	chr17:59987800-60002600	Weak transcription	NHEK	skin
26	chr17:59989000-59994800	Weak transcription	Ovary	ovary
27	chr17:59989000-59996600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr17:59989000-59996800	Weak transcription	Esophagus	oesophagus
29	chr17:59989000-60001600	Weak transcription	Brain Germinal Matrix	brain
30	chr17:59989200-59995400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr17:59989200-59996600	Weak transcription	HSMM	muscle
32	chr17:59989200-59998000	Weak transcription	Fetal Kidney	kidney
33	chr17:59989200-59998600	Weak transcription	HMEC	breast
34	chr17:59989200-60001400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr17:59989200-60003400	Weak transcription	Colon Smooth Muscle	Colon
36	chr17:59989400-59994200	Weak transcription	Primary B cells from cord blood	blood
37	chr17:59989400-59994400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr17:59989400-59994400	Weak transcription	NH-A	brain
39	chr17:59989400-59994600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr17:59989400-59994600	Weak transcription	Thymus	Thymus
41	chr17:59989400-59994800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr17:59989400-59994800	Weak transcription	Brain Hippocampus Middle	brain
43	chr17:59989400-59994800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr17:59989400-59995600	Weak transcription	Fetal Brain Female	brain
45	chr17:59989400-59995600	Weak transcription	Left Ventricle	heart
46	chr17:59989400-59996600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr17:59989400-59996600	Weak transcription	Fetal Thymus	thymus
48	chr17:59989400-59996800	Weak transcription	Osteobl	bone
49	chr17:59989400-60001400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr17:59989400-60003800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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