Variant report

Variant	rs6744525
Chromosome Location	chr2:30586266-30586267
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30585635..30588631-chr2:30590079..30592633,2	K562	blood:
2	chr2:30581738..30584056-chr2:30585628..30587536,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12988612	0.83[CEU][hapmap]
rs34973411	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6741397	0.89[EUR][1000 genomes]
rs6756908	0.92[GIH][hapmap]
rs7576009	0.85[EUR][1000 genomes]
rs7578449	0.94[CEU][hapmap];0.94[MEX][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7579095	0.84[EUR][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	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
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv873769	chr2:30585638-30625264	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30581600-30586400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:30581600-30586600	Enhancers	Primary T cells from cord blood	blood
3	chr2:30582000-30586400	Enhancers	Adipose Nuclei	Adipose
4	chr2:30582000-30586400	Enhancers	Fetal Lung	lung
5	chr2:30582000-30591600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:30582400-30589600	Enhancers	Fetal Heart	heart
7	chr2:30583200-30589400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:30583200-30591400	Weak transcription	Gastric	stomach
9	chr2:30584000-30586400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:30584200-30586400	Enhancers	Aorta	Aorta
11	chr2:30584400-30586400	Enhancers	Osteobl	bone
12	chr2:30584600-30586600	Enhancers	NHLF	lung
13	chr2:30584800-30586600	Enhancers	HSMMtube	muscle
14	chr2:30584800-30586800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:30585000-30586600	Enhancers	A549	lung
16	chr2:30585000-30586800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:30585200-30586400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:30585200-30586400	Enhancers	HSMM	muscle
19	chr2:30585400-30586600	Enhancers	Stomach Mucosa	stomach
20	chr2:30585400-30586600	Flanking Active TSS	NH-A	brain
21	chr2:30585400-30591200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:30585600-30586400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:30585600-30587200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:30585600-30588800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr2:30585600-30588800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:30585600-30589000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:30585600-30589000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:30585600-30589000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:30585600-30589000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:30585600-30589200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:30585600-30589400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr2:30585600-30605800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:30586000-30586400	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr2:30586000-30587600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:30586000-30588400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr2:30586000-30588800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr2:30586000-30588800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr2:30586000-30589000	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:30586000-30589000	Weak transcription	Placenta	Placenta
40	chr2:30586000-30589000	Weak transcription	Fetal Thymus	thymus
41	chr2:30586000-30589400	Weak transcription	Esophagus	oesophagus
42	chr2:30586200-30586400	Enhancers	Stomach Smooth Muscle	stomach
43	chr2:30586200-30586600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr2:30586200-30586800	Enhancers	NHDF-Ad	bronchial
45	chr2:30586200-30587400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:30586200-30587400	Weak transcription	Pancreas	Pancrea
47	chr2:30586200-30587600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:30586200-30587600	Weak transcription	Lung	lung
49	chr2:30586200-30588000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr2:30586200-30588400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links