Variant report

Variant	rs7948786
Chromosome Location	chr11:47212032-47212033
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47205217..47215436-chr11:47233934..47241095,26	MCF-7	breast:
2	chr11:47205689..47216568-chr11:47232414..47239487,27	MCF-7	breast:
3	chr11:47209972..47212228-chr11:47292930..47294669,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110514	Chromatin interaction
ENSG00000256746	Chromatin interaction
ENSG00000134574	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11039106	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11039114	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2867972	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3740691	0.93[GIH][hapmap]
rs3740694	1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7130989	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs752849	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7925137	0.83[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7940473	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv897324	chr11:47193566-47212032	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv975171	chr11:47209667-47215620	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7948786	ARFGAP2	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47209200-47216000	Weak transcription	Esophagus	oesophagus
2	chr11:47209400-47213800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:47209600-47213200	Weak transcription	Right Ventricle	heart
4	chr11:47209800-47214000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:47210200-47214800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:47210200-47226000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:47211200-47213800	Weak transcription	K562	blood
8	chr11:47211200-47215400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:47211400-47212200	Enhancers	A549	lung
10	chr11:47211400-47213200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:47211400-47213600	Weak transcription	HMEC	breast
12	chr11:47211400-47213800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:47211400-47214800	Weak transcription	NHEK	skin
14	chr11:47211400-47215200	Weak transcription	Osteobl	bone
15	chr11:47211400-47215400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:47211400-47215400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:47211400-47215600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:47211600-47212400	Enhancers	HepG2	liver
19	chr11:47211600-47213000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:47211600-47213800	Weak transcription	Fetal Intestine Small	intestine
21	chr11:47211600-47213800	Enhancers	Hela-S3	cervix
22	chr11:47211600-47214800	Weak transcription	Fetal Intestine Large	intestine
23	chr11:47211600-47215400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:47211800-47213000	Weak transcription	Placenta	Placenta
25	chr11:47211800-47215600	Weak transcription	NH-A	brain

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