Variant report

Variant	rs72952624
Chromosome Location	chr1:85634847-85634848
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11161536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11161537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11161544	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11161546	1.00[AMR][1000 genomes]
rs12073567	0.85[AMR][1000 genomes]
rs12075407	1.00[AMR][1000 genomes]
rs12083953	1.00[AMR][1000 genomes]
rs12087427	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12096033	0.85[AFR][1000 genomes]
rs58859506	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72482805	0.83[AFR][1000 genomes]
rs72950882	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950887	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950898	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952616	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952618	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7513769	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85608600-85655200	Weak transcription	Aorta	Aorta
2	chr1:85610400-85647800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:85615400-85647600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:85615400-85655200	Weak transcription	Lung	lung
5	chr1:85615600-85654000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:85615800-85665800	Weak transcription	Esophagus	oesophagus
7	chr1:85616000-85638800	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:85616400-85635800	Weak transcription	Left Ventricle	heart
9	chr1:85617800-85648000	Weak transcription	Liver	Liver
10	chr1:85619000-85655000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:85619200-85647400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:85619800-85646800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:85621000-85645000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:85624400-85647600	Weak transcription	HSMM	muscle
15	chr1:85625600-85654600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:85626600-85637200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:85626600-85637400	Weak transcription	K562	blood
18	chr1:85626600-85638400	Weak transcription	Pancreas	Pancrea
19	chr1:85626800-85655600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:85627200-85657400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:85627400-85654200	Weak transcription	Gastric	stomach
22	chr1:85627400-85655800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:85627400-85663000	Weak transcription	NHEK	skin
24	chr1:85627600-85648000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:85627800-85655800	Weak transcription	NHDF-Ad	bronchial
26	chr1:85627800-85664400	Weak transcription	Osteobl	bone
27	chr1:85628400-85647400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:85628600-85648000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:85629000-85645200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr1:85629800-85653600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:85630400-85638400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:85630600-85637800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:85630600-85643600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:85630600-85647600	Weak transcription	Adipose Nuclei	Adipose
35	chr1:85630800-85647800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:85630800-85647800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:85631200-85654000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:85631400-85654200	Weak transcription	HepG2	liver
39	chr1:85632000-85648400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:85632600-85647800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:85632800-85638800	Weak transcription	Fetal Heart	heart
42	chr1:85632800-85647800	Weak transcription	Fetal Lung	lung
43	chr1:85633200-85637200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr1:85633400-85638800	Weak transcription	Ovary	ovary
45	chr1:85633400-85655000	Weak transcription	Fetal Intestine Small	intestine
46	chr1:85633600-85654200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:85633800-85642800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:85634000-85655200	Weak transcription	Fetal Stomach	stomach
49	chr1:85634200-85645200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:85634600-85635000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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