Variant report

Variant	rs9381033
Chromosome Location	chr6:12326190-12326191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:12320054..12322576-chr6:12323490..12326394,2	MCF-7	breast:
2	chr6:12289159..12293070-chr6:12321878..12326678,5	MCF-7	breast:
3	chr6:12324741..12326654-chr6:12344766..12346317,2	MCF-7	breast:
4	chr6:12289263..12293878-chr6:12323003..12327079,6	MCF-7	breast:
5	chr6:12311955..12317813-chr6:12323964..12327057,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000078401	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10947946	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs10947948	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11753558	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12055484	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16872657	0.88[LWK][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs16872662	0.82[YRI][hapmap]
rs17765653	0.83[ASW][hapmap];0.82[CEU][hapmap];0.86[TSI][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4379286	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4711654	0.91[CEU][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4711655	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4714414	0.85[JPT][hapmap]
rs4714418	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6458193	0.86[CEU][hapmap];0.83[CHB][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6921790	0.81[CHB][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6932390	0.84[EUR][1000 genomes]
rs9357344	0.87[JPT][hapmap]
rs9357346	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs9369246	0.87[JPT][hapmap]
rs9369262	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs9381013	0.87[JPT][hapmap]
rs9381015	0.86[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9381035	0.91[CEU][hapmap];0.83[CHB][hapmap];0.80[CHD][hapmap];0.89[GIH][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9394741	0.87[EUR][1000 genomes]
rs9471438	0.87[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	nsv508394	chr6:12285464-12386745	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9381033	RN7SKP293	cis	Artery Tibial	GTEx

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12315200-12327800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:12323400-12327000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:12323800-12328000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr6:12324400-12327000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr6:12324400-12327200	Enhancers	H9 Cell Line	embryonic stem cell
6	chr6:12324400-12327400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:12324400-12328600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr6:12324400-12329200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:12324600-12326600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr6:12324600-12328600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:12324800-12328800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:12324800-12328800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr6:12324800-12328800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:12324800-12331000	Weak transcription	Pancreas	Pancrea
15	chr6:12325000-12326200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:12325000-12327000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:12325000-12327800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr6:12325200-12327600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:12325200-12328600	Enhancers	NHEK	skin
20	chr6:12325200-12331600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr6:12325200-12332200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:12325400-12326600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr6:12325400-12326800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:12325400-12327800	Weak transcription	HepG2	liver
25	chr6:12325400-12328800	Weak transcription	Fetal Intestine Small	intestine
26	chr6:12325400-12328800	Weak transcription	Stomach Mucosa	stomach
27	chr6:12325400-12329000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr6:12325400-12329600	Enhancers	A549	lung
29	chr6:12325400-12331000	Weak transcription	Fetal Intestine Large	intestine
30	chr6:12325400-12332000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:12325600-12326200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:12325600-12326400	Enhancers	Fetal Brain Female	brain
33	chr6:12325600-12327000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:12325800-12326200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr6:12325800-12327000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:12325800-12327000	Weak transcription	HMEC	breast
37	chr6:12325800-12327800	Weak transcription	Hela-S3	cervix
38	chr6:12325800-12328600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:12325800-12328600	Weak transcription	Fetal Thymus	thymus
40	chr6:12326000-12326200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links