Variant report

Variant	rs12527379
Chromosome Location	chr6:132279840-132279841
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	6:132269655-132282174..6:132454814-132459405	GM12878	blood:
2	6:132269655-132282174..6:132434977-132438109	Hela-S3	cervix:
3	6:132269655-132282174..6:132402790-132406656	H1-hESC	embryonic stem cell:	embryo
4	chr6:132270354..132272502-chr6:132277537..132280561,3	MCF-7	breast:
5	6:132269655-132282174..6:132480387-132483283	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000265669	Chromatin interaction
ENSG00000227220	Chromatin interaction
ENSG00000236166	Chromatin interaction
ENSG00000228495	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1206734	1.00[ASW][hapmap]
rs173055	0.90[EUR][1000 genomes]
rs1813069	0.94[ASN][1000 genomes]
rs1930999	0.92[EUR][1000 genomes]
rs1931000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2095252	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs233907	0.91[EUR][1000 genomes]
rs233909	0.93[EUR][1000 genomes]
rs233910	0.93[EUR][1000 genomes]
rs233912	0.92[EUR][1000 genomes]
rs233914	0.85[EUR][1000 genomes]
rs233915	0.90[EUR][1000 genomes]
rs233916	0.90[EUR][1000 genomes]
rs233918	0.90[EUR][1000 genomes]
rs233935	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs233936	0.80[CEU][hapmap];1.00[YRI][hapmap]
rs233939	0.92[CEU][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes]
rs6935514	1.00[ASW][hapmap]
rs6939234	1.00[ASW][hapmap]
rs928505	1.00[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][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	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132275600-132299800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:132276200-132280400	Weak transcription	Colonic Mucosa	Colon
3	chr6:132276200-132287400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:132276400-132281800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:132276400-132282000	Weak transcription	Aorta	Aorta
6	chr6:132276600-132297800	Weak transcription	Ovary	ovary
7	chr6:132277000-132281400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:132277000-132281400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:132277000-132287800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr6:132277200-132287600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:132277400-132281400	Weak transcription	HUVEC	blood vessel
12	chr6:132277400-132287600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:132277400-132291200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:132277400-132305600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:132278800-132280800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr6:132279000-132280600	Enhancers	Fetal Intestine Small	intestine
17	chr6:132279200-132280000	Enhancers	A549	lung
18	chr6:132279400-132280000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:132279400-132280000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:132279400-132280000	Flanking Active TSS	HepG2	liver
21	chr6:132279400-132280200	Enhancers	HSMMtube	muscle
22	chr6:132279400-132280200	Enhancers	Osteobl	bone
23	chr6:132279400-132280400	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr6:132279400-132280600	Enhancers	Fetal Intestine Large	intestine
25	chr6:132279400-132282200	Enhancers	Liver	Liver
26	chr6:132279600-132280000	Weak transcription	Pancreas	Pancrea
27	chr6:132279600-132280000	Flanking Active TSS	Stomach Mucosa	stomach
28	chr6:132279800-132280200	Enhancers	Duodenum Mucosa	Duodenum
29	chr6:132279800-132280600	Enhancers	Rectal Mucosa Donor 29	rectum

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