Variant report

Variant	rs12648279
Chromosome Location	chr4:22501045-22501046
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:22500720..22505653-chr4:22515837..22519334,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152990	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10009861	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11728370	0.93[ASN][1000 genomes]
rs12504167	0.83[ASN][1000 genomes]
rs13113896	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13135791	0.87[ASN][1000 genomes]
rs16872759	0.88[ASN][1000 genomes]
rs4697018	0.83[ASN][1000 genomes]
rs4697312	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs57453276	0.92[ASN][1000 genomes]
rs6448162	0.98[ASN][1000 genomes]
rs73114193	0.84[ASN][1000 genomes]
rs73114194	0.84[ASN][1000 genomes]
rs7670164	0.82[ASN][1000 genomes]
rs7685164	0.93[ASN][1000 genomes]
rs7692390	0.83[ASN][1000 genomes]
rs7697048	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22485000-22506000	Weak transcription	Esophagus	oesophagus
2	chr4:22485600-22501400	Weak transcription	Hela-S3	cervix
3	chr4:22485600-22502000	Weak transcription	A549	lung
4	chr4:22488400-22503000	Weak transcription	Small Intestine	intestine
5	chr4:22488600-22516000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:22488800-22503600	Weak transcription	NHLF	lung
7	chr4:22489600-22503800	Weak transcription	HSMM	muscle
8	chr4:22490200-22501600	Weak transcription	Psoas Muscle	Psoas
9	chr4:22490200-22503600	Weak transcription	Right Ventricle	heart
10	chr4:22490200-22508600	Weak transcription	Right Atrium	heart
11	chr4:22492800-22501400	Weak transcription	Liver	Liver
12	chr4:22492800-22506000	Weak transcription	Lung	lung
13	chr4:22493200-22504000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:22493800-22501400	Weak transcription	Fetal Intestine Small	intestine
15	chr4:22493800-22501600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:22493800-22501800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:22493800-22506200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:22494000-22501200	Weak transcription	Fetal Intestine Large	intestine
19	chr4:22495400-22501200	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:22495400-22501800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:22495400-22502000	Weak transcription	Left Ventricle	heart
22	chr4:22497000-22515600	Weak transcription	Fetal Stomach	stomach
23	chr4:22497200-22506000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:22498400-22502600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:22498400-22503400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:22498600-22501800	Weak transcription	Pancreas	Pancrea
27	chr4:22498800-22502000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:22498800-22502000	Weak transcription	NH-A	brain
29	chr4:22499400-22501800	Weak transcription	Gastric	stomach
30	chr4:22499600-22502000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:22500000-22508200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:22500200-22502800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:22500400-22501800	Enhancers	NHEK	skin
34	chr4:22500400-22502200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr4:22500400-22502600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr4:22500400-22503400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:22500400-22504200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr4:22500400-22504400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr4:22500400-22510600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr4:22500400-22510600	Enhancers	HMEC	breast
41	chr4:22500600-22502200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr4:22500600-22503000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr4:22500600-22503000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr4:22500600-22503200	Enhancers	Colon Smooth Muscle	Colon
45	chr4:22500600-22504200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr4:22500600-22504400	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr4:22500600-22504600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr4:22500600-22505600	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr4:22500600-22507800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr4:22500600-22510800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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