Variant report

Variant	rs4714384
Chromosome Location	chr6:12297853-12297854
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	chr6:12259551..12262055-chr6:12297519..12299639,2	K562	blood:
4	chr6:12289734..12294573-chr6:12296754..12299785,4	K562	blood:
5	chr6:12297751..12299644-chr6:12328218..12330903,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000078401	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11753558	0.84[ASN][1000 genomes]
rs17765653	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs4379286	0.93[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap]
rs4711655	0.83[ASN][1000 genomes]
rs4714383	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs6458193	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.83[ASN][1000 genomes]
rs6921790	0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs9381015	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs9381035	0.86[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap]
rs9394741	0.93[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
rs4714384	RNF182	cis	parietal	SCAN

Chromatin state (count:42 , 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	chr6:12293200-12298000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:12293200-12298000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:12293200-12298200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:12293200-12299800	Weak transcription	Left Ventricle	heart
9	chr6:12294400-12298000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:12295000-12298400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:12296200-12299200	Enhancers	HepG2	liver
12	chr6:12296600-12298200	Weak transcription	Fetal Stomach	stomach
13	chr6:12296600-12298200	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr6:12296600-12298400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:12296600-12299400	Weak transcription	Pancreas	Pancrea
16	chr6:12296600-12314400	Weak transcription	Spleen	Spleen
17	chr6:12296800-12298000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:12297000-12298200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:12297000-12298200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:12297000-12298200	Genic enhancers	Fetal Intestine Small	intestine
21	chr6:12297000-12298200	Enhancers	NHDF-Ad	bronchial
22	chr6:12297000-12298400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:12297000-12298600	Strong transcription	NH-A	brain
24	chr6:12297000-12299600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:12297000-12300000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr6:12297000-12301000	Weak transcription	HSMMtube	muscle
27	chr6:12297200-12298000	Strong transcription	Placenta Amnion	Placenta Amnion
28	chr6:12297200-12298200	Strong transcription	Fetal Intestine Large	intestine
29	chr6:12297200-12298600	Strong transcription	HSMM	muscle
30	chr6:12297200-12299000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:12297200-12299600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:12297200-12311200	Weak transcription	HUVEC	blood vessel
33	chr6:12297400-12298000	Flanking Active TSS	A549	lung
34	chr6:12297400-12299000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:12297600-12298200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:12297600-12298200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr6:12297600-12299800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr6:12297800-12298200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:12297800-12298400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr6:12297800-12298400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:12297800-12298400	Enhancers	Aorta	Aorta
42	chr6:12297800-12298600	Strong transcription	NHEK	skin

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