Variant report

Variant	rs4714383
Chromosome Location	chr6:12297482-12297483
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:12292613..12295178-chr6:12296752..12298265,2	MCF-7	breast:
2	chr6:12296374..12298184-chr6:12601509..12603152,2	MCF-7	breast:
3	chr6:12289734..12294573-chr6:12296754..12299785,4	K562	blood:

Variant related genes	Relation type
ENSG00000078401	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10947948	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10947949	0.81[EUR][1000 genomes]
rs11753558	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12055484	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17765653	0.80[JPT][hapmap]
rs4379286	0.95[CHD][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap];0.80[TSI][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4711655	0.86[ASN][1000 genomes]
rs4714384	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs6458187	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6458193	0.82[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.91[LWK][hapmap];0.86[MEX][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6921790	0.85[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs6932390	0.85[EUR][1000 genomes]
rs9357346	0.86[EUR][1000 genomes]
rs9369262	0.81[CHD][hapmap];0.86[EUR][1000 genomes]
rs9381015	0.82[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9381035	0.82[CHB][hapmap];0.90[CHD][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9394741	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[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
rs4714383	RN7SKP293	cis	Artery Tibial	GTEx

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12292800-12298000	Weak transcription	Gastric	stomach
2	chr6:12292800-12299200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:12293000-12298000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:12293000-12300000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr6:12293200-12297600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:12293200-12298000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:12293200-12298000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:12293200-12298200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:12293200-12299800	Weak transcription	Left Ventricle	heart
10	chr6:12294400-12298000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:12295000-12298400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:12296200-12299200	Enhancers	HepG2	liver
13	chr6:12296600-12297600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:12296600-12297800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:12296600-12297800	Weak transcription	Aorta	Aorta
16	chr6:12296600-12298200	Weak transcription	Fetal Stomach	stomach
17	chr6:12296600-12298200	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr6:12296600-12298400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:12296600-12299400	Weak transcription	Pancreas	Pancrea
20	chr6:12296600-12314400	Weak transcription	Spleen	Spleen
21	chr6:12296800-12297800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:12296800-12298000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:12297000-12297800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:12297000-12298200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:12297000-12298200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:12297000-12298200	Genic enhancers	Fetal Intestine Small	intestine
27	chr6:12297000-12298200	Enhancers	NHDF-Ad	bronchial
28	chr6:12297000-12298400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:12297000-12298600	Strong transcription	NH-A	brain
30	chr6:12297000-12299600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:12297000-12300000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr6:12297000-12301000	Weak transcription	HSMMtube	muscle
33	chr6:12297200-12297600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr6:12297200-12297800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr6:12297200-12297800	Weak transcription	NHEK	skin
36	chr6:12297200-12298000	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr6:12297200-12298200	Strong transcription	Fetal Intestine Large	intestine
38	chr6:12297200-12298600	Strong transcription	HSMM	muscle
39	chr6:12297200-12299000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:12297200-12299600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:12297200-12311200	Weak transcription	HUVEC	blood vessel
42	chr6:12297400-12298000	Flanking Active TSS	A549	lung
43	chr6:12297400-12299000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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