Variant report

Variant	rs522112
Chromosome Location	chr1:160738007-160738008
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:160650431..160651343-chr1:160737795..160738367,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs492484	0.90[AMR][1000 genomes]
rs522606	0.90[AMR][1000 genomes]
rs524276	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831714	chr1:160581168-160776809	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv428532	chr1:160671125-160767708	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160736400-160738200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:160736600-160738200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:160736600-160738400	Enhancers	Fetal Thymus	thymus
4	chr1:160736800-160738400	Flanking Active TSS	GM12878-XiMat	blood
5	chr1:160736800-160740000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:160737200-160738200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:160737200-160738200	Enhancers	HMEC	breast
8	chr1:160737200-160738400	Flanking Active TSS	NHEK	skin
9	chr1:160737400-160738200	Enhancers	Primary B cells from cord blood	blood
10	chr1:160737400-160738200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:160737400-160738400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr1:160737600-160738200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:160737600-160738200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
14	chr1:160737600-160738200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:160737600-160738200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr1:160737600-160738200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr1:160737600-160738200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:160737600-160738200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:160737600-160738200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr1:160737600-160738200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr1:160737600-160738200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr1:160737600-160738200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:160737600-160738200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:160737600-160738200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:160737600-160738200	Active TSS	Colonic Mucosa	Colon
26	chr1:160737600-160738200	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr1:160737600-160738200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr1:160737600-160738400	Enhancers	Ovary	ovary
29	chr1:160737800-160738200	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr1:160737800-160738200	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr1:160737800-160738200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:160737800-160738200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:160737800-160738200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr1:160737800-160738200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:160737800-160738200	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr1:160737800-160738200	Enhancers	Thymus	Thymus
37	chr1:160737800-160738200	Flanking Active TSS	Dnd41	blood
38	chr1:160737800-160738200	Flanking Active TSS	K562	blood
39	chr1:160737800-160738200	Active TSS	Osteobl	bone
40	chr1:160737800-160738400	Enhancers	Lung	lung
41	chr1:160737800-160738600	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr1:160738000-160738200	Active TSS	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links