Variant report

Variant	rs72865413
Chromosome Location	chr2:30888600-30888601
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30440406..30441944-chr2:30886880..30888803,2	K562	blood:
2	chr2:30885089..30887091-chr2:30887227..30889591,3	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs6741165	0.86[AFR][1000 genomes]
rs6749665	0.81[AFR][1000 genomes]
rs72863101	0.96[AFR][1000 genomes]
rs72865406	0.86[AFR][1000 genomes]
rs72865407	0.96[AFR][1000 genomes]
rs72865417	0.81[AFR][1000 genomes]
rs72865427	0.81[AFR][1000 genomes]
rs72865432	0.81[AFR][1000 genomes]
rs72865442	0.92[AFR][1000 genomes]
rs72865444	0.92[AFR][1000 genomes]
rs72865447	0.86[AFR][1000 genomes]
rs7582446	0.86[AFR][1000 genomes]
rs7597400	0.82[AFR][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30882800-30889600	Enhancers	Fetal Muscle Leg	muscle
2	chr2:30883600-30890400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:30884000-30889000	Weak transcription	Psoas Muscle	Psoas
4	chr2:30884400-30890000	Enhancers	NHDF-Ad	bronchial
5	chr2:30884600-30889400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:30884600-30889600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr2:30884800-30889200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:30885200-30889400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:30885400-30889000	Enhancers	NHEK	skin
10	chr2:30886000-30888800	Weak transcription	Left Ventricle	heart
11	chr2:30886000-30888800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:30886200-30889600	Enhancers	HMEC	breast
13	chr2:30886800-30889600	Enhancers	HSMM	muscle
14	chr2:30886800-30890000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:30887000-30889400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:30887200-30889000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:30887200-30889200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:30887200-30889400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:30887200-30889400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:30887200-30889600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:30887400-30888800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:30887600-30889200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr2:30887800-30888600	Enhancers	HSMMtube	muscle
24	chr2:30887800-30889000	Enhancers	Osteobl	bone
25	chr2:30887800-30889200	Weak transcription	K562	blood
26	chr2:30887800-30889400	Enhancers	Placenta	Placenta
27	chr2:30887800-30889400	Enhancers	NHLF	lung
28	chr2:30887800-30889800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:30888000-30889000	Enhancers	Hela-S3	cervix
30	chr2:30888000-30889400	Enhancers	Stomach Smooth Muscle	stomach
31	chr2:30888200-30888600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:30888200-30888800	Weak transcription	Gastric	stomach
33	chr2:30888200-30889600	Enhancers	Rectal Smooth Muscle	rectum
34	chr2:30888200-30889800	Enhancers	Colon Smooth Muscle	Colon
35	chr2:30888200-30889800	Enhancers	HUVEC	blood vessel
36	chr2:30888400-30888800	Weak transcription	Fetal Stomach	stomach
37	chr2:30888400-30889000	Enhancers	A549	lung
38	chr2:30888400-30889000	Enhancers	NH-A	brain
39	chr2:30888400-30890400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:30888600-30889400	Enhancers	Fetal Muscle Trunk	muscle
41	chr2:30888600-30889400	Flanking Active TSS	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links