Variant report

Variant	rs60545517
Chromosome Location	chr2:172259295-172259296
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172257799..172259945-chr2:172263821..172267063,3	K562	blood:
2	chr2:172015722..172018692-chr2:172257692..172260604,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198586	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10173812	1.00[ASN][1000 genomes]
rs10195398	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1125991	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13390534	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3731986	0.82[ASN][1000 genomes]
rs888521	0.82[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	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:37 , 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	chr2:172248000-172266000	Weak transcription	Left Ventricle	heart
5	chr2:172248400-172259600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:172248400-172259600	Weak transcription	Hela-S3	cervix
7	chr2:172248600-172265400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:172254600-172265400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:172256200-172259600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:172256200-172260800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:172256200-172264000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:172256800-172263400	Weak transcription	Fetal Brain Male	brain
13	chr2:172257000-172259600	Weak transcription	HSMMtube	muscle
14	chr2:172257000-172261200	ZNF genes & repeats	GM12878-XiMat	blood
15	chr2:172257000-172266000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:172257600-172266000	Weak transcription	Aorta	Aorta
17	chr2:172257800-172259600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr2:172257800-172259800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:172258000-172259400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr2:172258000-172259600	ZNF genes & repeats	NHEK	skin
21	chr2:172258000-172259800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:172258000-172262800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:172258200-172265200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:172258200-172265400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:172258400-172259400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:172258600-172259600	ZNF genes & repeats	NHDF-Ad	bronchial
27	chr2:172258600-172272400	Weak transcription	A549	lung
28	chr2:172258800-172259400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:172258800-172259400	Enhancers	HUVEC	blood vessel
30	chr2:172258800-172259600	Weak transcription	HSMM	muscle
31	chr2:172259200-172259600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:172259200-172261600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr2:172259200-172261600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:172259200-172261600	Enhancers	Osteobl	bone
35	chr2:172259200-172261800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:172259200-172261800	Enhancers	NH-A	brain
37	chr2:172259200-172262200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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