Variant report

Variant	rs73022911
Chromosome Location	chr2:172261280-172261281
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172261014..172263381-chr2:172264531..172266240,2	MCF-7	breast:
2	chr2:172260491..172264264-chr2:172264585..172267651,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs57396064	0.83[AMR][1000 genomes]
rs58728495	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59745257	0.83[AMR][1000 genomes]
rs60087352	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs60100357	0.83[AMR][1000 genomes]
rs60925959	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73021081	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73022904	0.83[AMR][1000 genomes]
rs73022907	0.83[AMR][1000 genomes]
rs73022909	0.95[AFR][1000 genomes];1.00[AMR][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:54 , 50 per page) page: 1 2

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	chr2:172248000-172266000	Weak transcription	Left Ventricle	heart
5	chr2:172248600-172265400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:172254600-172265400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:172256200-172264000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr2:172256800-172263400	Weak transcription	Fetal Brain Male	brain
9	chr2:172257000-172266000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:172257600-172266000	Weak transcription	Aorta	Aorta
11	chr2:172258000-172262800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr2:172258200-172265200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:172258200-172265400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:172258600-172272400	Weak transcription	A549	lung
15	chr2:172259200-172261600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:172259200-172261600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:172259200-172261600	Enhancers	Osteobl	bone
18	chr2:172259200-172261800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:172259200-172261800	Enhancers	NH-A	brain
20	chr2:172259200-172262200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:172259400-172261800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:172259400-172261800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:172259400-172261800	Enhancers	HMEC	breast
24	chr2:172259400-172265400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:172259400-172272200	Weak transcription	Fetal Intestine Small	intestine
26	chr2:172259600-172261600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:172259600-172261800	Enhancers	HSMM	muscle
28	chr2:172259600-172262200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:172259600-172262200	Enhancers	Hela-S3	cervix
30	chr2:172259600-172262200	Enhancers	NHEK	skin
31	chr2:172259800-172261600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:172259800-172261800	Enhancers	NHDF-Ad	bronchial
33	chr2:172259800-172262000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:172259800-172262200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:172259800-172262800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:172259800-172266000	Weak transcription	Esophagus	oesophagus
37	chr2:172260000-172261800	Enhancers	HUVEC	blood vessel
38	chr2:172260000-172271000	Weak transcription	K562	blood
39	chr2:172260200-172262000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:172260200-172272200	Weak transcription	HepG2	liver
41	chr2:172260800-172261400	Enhancers	Small Intestine	intestine
42	chr2:172260800-172261600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:172260800-172261600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:172260800-172261600	ZNF genes & repeats	Dnd41	blood
45	chr2:172260800-172261600	Enhancers	HSMMtube	muscle
46	chr2:172260800-172261600	Enhancers	NHLF	lung
47	chr2:172260800-172265600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:172261000-172263000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:172261000-172264000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:172261000-172265600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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