Variant report

Variant	rs72762617
Chromosome Location	chr5:58421945-58421946
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56077650	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57038317	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60564381	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62356723	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58408400-58422600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:58411200-58422800	Weak transcription	Right Ventricle	heart
3	chr5:58414600-58422600	Weak transcription	Fetal Intestine Large	intestine
4	chr5:58414800-58422800	Weak transcription	Stomach Mucosa	stomach
5	chr5:58418200-58422800	Enhancers	Primary T cells fromperipheralblood	blood
6	chr5:58418600-58422800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr5:58418600-58422800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr5:58418600-58423000	Enhancers	Primary hematopoietic stem cells	blood
9	chr5:58418600-58424800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:58418800-58422600	Enhancers	Fetal Heart	heart
11	chr5:58418800-58422800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr5:58418800-58422800	Enhancers	Fetal Thymus	thymus
13	chr5:58419000-58423000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr5:58419200-58423000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:58419400-58422000	Enhancers	Fetal Lung	lung
16	chr5:58419400-58422400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:58419400-58422400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr5:58419400-58422800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:58419400-58423200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:58419600-58422400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:58419600-58422400	Enhancers	Duodenum Mucosa	Duodenum
22	chr5:58419600-58422800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:58419600-58422800	Enhancers	Hela-S3	cervix
24	chr5:58419800-58422800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:58419800-58423000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:58420000-58422400	Enhancers	HSMMtube	muscle
27	chr5:58420000-58422600	Enhancers	Colon Smooth Muscle	Colon
28	chr5:58420200-58422400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr5:58420200-58423600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr5:58420400-58422800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:58420600-58422400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr5:58420600-58422600	Enhancers	Rectal Smooth Muscle	rectum
33	chr5:58420600-58423000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:58420800-58422800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:58420800-58423000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:58420800-58423200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr5:58421000-58422000	Enhancers	Brain Cingulate Gyrus	brain
38	chr5:58421000-58422000	Enhancers	Fetal Muscle Leg	muscle
39	chr5:58421000-58422000	Transcr. at gene 5' and 3'	A549	lung
40	chr5:58421000-58422200	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr5:58421000-58422200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr5:58421000-58422200	Enhancers	Fetal Stomach	stomach
43	chr5:58421000-58422200	Enhancers	Stomach Smooth Muscle	stomach
44	chr5:58421000-58422800	Enhancers	Thymus	Thymus
45	chr5:58421000-58423000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr5:58421000-58423000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr5:58421000-58423000	Enhancers	GM12878-XiMat	blood
48	chr5:58421000-58423400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr5:58421000-58423400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr5:58421200-58422000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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