Variant report

Variant	rs1125991
Chromosome Location	chr2:172263448-172263449
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172262220..172263870-chr2:172287578..172290447,2	K562	blood:
2	chr2:172260491..172264264-chr2:172264585..172267651,3	K562	blood:

Variant related genes	Relation type
ENSG00000123600	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10173812	1.00[ASN][1000 genomes]
rs10195398	0.88[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13390534	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3731986	0.82[ASN][1000 genomes]
rs60545517	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709526	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs7564847	0.80[CHB][hapmap];0.82[JPT][hapmap]
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:58 , 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	chr2:172257000-172266000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:172257600-172266000	Weak transcription	Aorta	Aorta
10	chr2:172258200-172265200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:172258200-172265400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:172258600-172272400	Weak transcription	A549	lung
13	chr2:172259400-172265400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:172259400-172272200	Weak transcription	Fetal Intestine Small	intestine
15	chr2:172259800-172266000	Weak transcription	Esophagus	oesophagus
16	chr2:172260000-172271000	Weak transcription	K562	blood
17	chr2:172260200-172272200	Weak transcription	HepG2	liver
18	chr2:172260800-172265600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:172261000-172264000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:172261000-172265600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:172261000-172266000	Enhancers	Primary B cells from peripheral blood	blood
22	chr2:172261200-172265000	Enhancers	Primary B cells from cord blood	blood
23	chr2:172261400-172266000	Weak transcription	Small Intestine	intestine
24	chr2:172261600-172264400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:172261600-172265000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:172261600-172265400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:172261600-172265600	Weak transcription	HSMMtube	muscle
28	chr2:172261600-172265800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:172261600-172266000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:172261600-172266000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:172261600-172266000	Weak transcription	Dnd41	blood
32	chr2:172261600-172266000	Weak transcription	NHLF	lung
33	chr2:172261600-172266200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:172261600-172277800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:172261800-172265200	Weak transcription	HMEC	breast
36	chr2:172261800-172265800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:172261800-172266000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:172261800-172266000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:172261800-172266000	Weak transcription	HSMM	muscle
40	chr2:172261800-172266000	Weak transcription	HUVEC	blood vessel
41	chr2:172261800-172266000	Weak transcription	NH-A	brain
42	chr2:172261800-172266000	Weak transcription	NHDF-Ad	bronchial
43	chr2:172262000-172263600	Flanking Active TSS	GM12878-XiMat	blood
44	chr2:172262000-172264600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:172262200-172263800	Enhancers	Primary hematopoietic stem cells	blood
46	chr2:172262200-172265200	Weak transcription	NHEK	skin
47	chr2:172262200-172265800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:172262200-172266000	Weak transcription	Hela-S3	cervix
49	chr2:172262400-172265200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:172262400-172268800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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