Variant report

Variant	rs73022907
Chromosome Location	chr2:172257707-172257708
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172252856..172255124-chr2:172255205..172258416,3	K562	blood:
2	chr2:172015722..172018692-chr2:172257692..172260604,3	MCF-7	breast:
3	chr2:172093118..172095032-chr2:172256193..172257749,2	K562	blood:

Variant related genes	Relation type
ENSG00000198586	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs16859392	0.90[AFR][1000 genomes]
rs16859394	0.90[AFR][1000 genomes]
rs57396064	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57999878	0.80[AFR][1000 genomes]
rs58033547	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs58560571	0.82[AFR][1000 genomes]
rs58728495	0.83[AMR][1000 genomes]
rs58796565	0.96[AFR][1000 genomes]
rs59745257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59886446	0.90[AFR][1000 genomes]
rs60087352	0.91[AMR][1000 genomes]
rs60100357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60837517	0.82[AFR][1000 genomes]
rs60925959	0.91[AMR][1000 genomes]
rs61731491	0.90[AFR][1000 genomes]
rs62183501	0.80[AFR][1000 genomes]
rs66525413	0.90[AFR][1000 genomes]
rs73021081	0.91[AMR][1000 genomes]
rs73021082	0.90[AFR][1000 genomes]
rs73022904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73022909	0.83[AMR][1000 genomes]
rs73022911	0.83[AMR][1000 genomes]
rs73022921	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73022930	1.00[AFR][1000 genomes]
rs73022949	0.90[AFR][1000 genomes]
rs7563499	1.00[AFR][1000 genomes]
rs7564602	0.82[AFR][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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172222200-172289600	Weak transcription	Gastric	stomach
2	chr2:172238000-172272400	Weak transcription	Fetal Intestine Large	intestine
3	chr2:172238800-172272400	Weak transcription	Primary T cells from cord blood	blood
4	chr2:172243800-172257800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:172244000-172257800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:172248000-172266000	Weak transcription	Left Ventricle	heart
7	chr2:172248200-172258000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:172248400-172258000	Weak transcription	NHEK	skin
9	chr2:172248400-172258400	Weak transcription	HSMM	muscle
10	chr2:172248400-172259600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:172248400-172259600	Weak transcription	Hela-S3	cervix
12	chr2:172248600-172265400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:172248800-172258000	Weak transcription	A549	lung
14	chr2:172249000-172258400	Weak transcription	HepG2	liver
15	chr2:172249000-172259200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:172254600-172265400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:172255800-172258000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:172256200-172258000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:172256200-172258200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:172256200-172259200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:172256200-172259600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:172256200-172260800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:172256200-172264000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:172256600-172257800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:172256600-172258000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:172256800-172258000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr2:172256800-172258200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:172256800-172258200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:172256800-172263400	Weak transcription	Fetal Brain Male	brain
30	chr2:172257000-172258000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:172257000-172258200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:172257000-172258400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:172257000-172258400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:172257000-172259600	Weak transcription	HSMMtube	muscle
35	chr2:172257000-172261200	ZNF genes & repeats	GM12878-XiMat	blood
36	chr2:172257000-172266000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:172257400-172258000	Weak transcription	HMEC	breast
38	chr2:172257400-172258200	Enhancers	H1 Cell Line	embryonic stem cell
39	chr2:172257400-172258200	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr2:172257600-172257800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr2:172257600-172258400	Weak transcription	K562	blood
42	chr2:172257600-172258600	Weak transcription	NHDF-Ad	bronchial
43	chr2:172257600-172266000	Weak transcription	Aorta	Aorta

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