Variant report

Variant	rs72701630
Chromosome Location	chr4:166262864-166262865
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	chr4:166253639..166255171-chr4:166261974..166264196,2	K562	blood:
2	chr4:166262631..166267437-chr4:166267990..166271315,4	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10015275	0.96[EUR][1000 genomes]
rs10021532	0.94[EUR][1000 genomes]
rs10025377	0.96[EUR][1000 genomes]
rs10031858	0.94[EUR][1000 genomes]
rs13106028	0.87[EUR][1000 genomes]
rs13137171	0.94[EUR][1000 genomes]
rs17046337	0.96[EUR][1000 genomes]
rs17046351	0.90[EUR][1000 genomes]
rs17585655	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17585739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28484900	0.96[EUR][1000 genomes]
rs28735257	0.96[EUR][1000 genomes]
rs34499452	0.94[AFR][1000 genomes]
rs6536909	0.91[EUR][1000 genomes]
rs6817186	0.94[EUR][1000 genomes]
rs6842704	0.92[EUR][1000 genomes]
rs6846664	0.96[EUR][1000 genomes]
rs6853552	0.94[EUR][1000 genomes]
rs72701627	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72701628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72701629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72701632	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72701634	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72701636	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72701637	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72701639	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72701642	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72701645	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72701652	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72701657	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72701659	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72701664	0.94[EUR][1000 genomes]
rs7656675	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7657847	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7671176	0.92[EUR][1000 genomes]
rs7679322	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7679808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7696111	0.87[EUR][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	esv1847399	chr4:166259587-166284836	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166249600-166266600	Weak transcription	Left Ventricle	heart
2	chr4:166250000-166264600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr4:166250200-166263800	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:166250200-166265000	Weak transcription	Psoas Muscle	Psoas
5	chr4:166250200-166265200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:166250600-166263200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr4:166250600-166265400	Weak transcription	Colonic Mucosa	Colon
8	chr4:166250600-166266800	Weak transcription	A549	lung
9	chr4:166252200-166269200	Weak transcription	Stomach Mucosa	stomach
10	chr4:166252200-166269400	Weak transcription	Gastric	stomach
11	chr4:166253400-166263000	Weak transcription	Pancreas	Pancrea
12	chr4:166253400-166272600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:166253600-166265400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:166253800-166265200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:166253800-166266600	Weak transcription	Small Intestine	intestine
16	chr4:166254000-166264600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:166254000-166264800	Weak transcription	Hela-S3	cervix
18	chr4:166254000-166265200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:166254000-166265200	Strong transcription	NHDF-Ad	bronchial
20	chr4:166254000-166269400	Weak transcription	Fetal Heart	heart
21	chr4:166254200-166264200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:166254200-166265200	Strong transcription	Fetal Thymus	thymus
23	chr4:166254400-166263200	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr4:166254600-166265200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:166254600-166265400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:166254800-166264200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr4:166255000-166263600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:166255000-166264200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr4:166255000-166264600	Strong transcription	HSMM	muscle
30	chr4:166255600-166265400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr4:166255800-166265200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr4:166255800-166265400	Strong transcription	HUVEC	blood vessel
33	chr4:166255800-166266800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:166256400-166264600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:166256600-166264800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr4:166256600-166265200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr4:166256800-166264200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:166256800-166264400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:166256800-166265200	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr4:166256800-166265200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr4:166257000-166263400	Strong transcription	NH-A	brain
42	chr4:166257000-166265200	Strong transcription	HMEC	breast
43	chr4:166257400-166265400	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr4:166257600-166263800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr4:166257600-166265200	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr4:166257800-166263200	Strong transcription	Fetal Intestine Large	intestine
47	chr4:166257800-166264000	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr4:166257800-166265200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:166258000-166264200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:166258000-166265200	Strong transcription	HUES64 Cell Line	embryonic stem cell

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