Variant report

Variant	rs72888944
Chromosome Location	chr2:63002002-63002003
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:62931224..62934812-chr2:63000900..63004540,3	K562	blood:
2	chr2:62933389..62934951-chr2:63001020..63002639,2	MCF-7	breast:
3	chr2:62683731..62684904-chr2:63001821..63002867,14	MCF-7	breast:
4	chr2:63000842..63003590-chr2:63004331..63006276,2	MCF-7	breast:
5	chr2:62682679..62685054-chr2:63000979..63003135,2	MCF-7	breast:
6	chr2:62683979..62684797-chr2:63001850..63002804,5	MCF-7	breast:
7	chr2:62683790..62684781-chr2:63001901..63003121,8	K562	blood:
8	chr2:63001709..63006118-chr2:63275948..63279086,3	MCF-7	breast:
9	chr2:62684863..62685366-chr2:63001621..63002446,2	MCF-7	breast:
10	chr2:62932469..62934660-chr2:63001228..63003479,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115507	Chromatin interaction
ENSG00000115504	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17027450	0.81[AFR][1000 genomes]
rs2102517	0.81[AFR][1000 genomes]
rs60575419	0.87[AFR][1000 genomes]
rs72807574	0.84[AFR][1000 genomes]
rs72888917	0.92[AFR][1000 genomes]
rs72888951	0.80[AFR][1000 genomes]
rs72888961	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62958200-63010200	Weak transcription	Primary B cells from cord blood	blood
2	chr2:62961200-63011600	Weak transcription	NHLF	lung
3	chr2:62974200-63017200	Weak transcription	Primary T cells from cord blood	blood
4	chr2:62982200-63009800	Weak transcription	Fetal Intestine Small	intestine
5	chr2:62982200-63033400	Weak transcription	Fetal Intestine Large	intestine
6	chr2:62982400-63006200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:62984400-63009800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:62988000-63009600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:62988000-63010400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:62988000-63012400	Weak transcription	HSMM	muscle
11	chr2:62988200-63012400	Weak transcription	HMEC	breast
12	chr2:62991800-63003200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:62993400-63007000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:62993600-63004800	Weak transcription	Adipose Nuclei	Adipose
15	chr2:62994800-63010200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:63000200-63003400	Genic enhancers	HepG2	liver
17	chr2:63000600-63004000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:63000800-63009200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:63001200-63002200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:63001400-63003200	Enhancers	Liver	Liver
21	chr2:63001600-63002200	Enhancers	NH-A	brain
22	chr2:63001600-63002200	Enhancers	NHDF-Ad	bronchial
23	chr2:63001600-63002400	Enhancers	Osteobl	bone
24	chr2:63001800-63002600	Enhancers	Stomach Smooth Muscle	stomach
25	chr2:63001800-63002600	Enhancers	NHEK	skin
26	chr2:63001800-63002800	Enhancers	Rectal Smooth Muscle	rectum
27	chr2:63001800-63003000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:63001800-63010200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:63002000-63002200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr2:63002000-63002200	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr2:63002000-63002800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:63002000-63003600	Enhancers	A549	lung
33	chr2:63002000-63004000	Weak transcription	Ovary	ovary
34	chr2:63002000-63005200	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:63002000-63009200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:63002000-63010200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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