Variant report

Variant	rs7153747
Chromosome Location	chr14:31021156-31021157
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31019395..31024975-chr14:31026715..31029555,5	MCF-7	breast:
2	chr14:31017377..31019830-chr14:31020179..31022304,2	K562	blood:
3	chr14:31017567..31019430-chr14:31020798..31024107,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092140	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10130830	0.91[CEU][hapmap]
rs10139154	0.81[EUR][1000 genomes]
rs10142331	0.91[CEU][hapmap]
rs11625381	0.91[CEU][hapmap]
rs11846420	0.83[CEU][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap]
rs12434151	0.96[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs151123	0.91[CEU][hapmap]
rs170663	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs170665	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs172946	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs183467	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1840399	0.81[EUR][1000 genomes]
rs1950882	0.81[EUR][1000 genomes]
rs2045180	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs2070339	0.91[CEU][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap]
rs229144	0.91[CEU][hapmap]
rs229150	0.91[CEU][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap]
rs229152	0.91[CEU][hapmap]
rs229154	0.91[CEU][hapmap]
rs229155	0.91[CEU][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap]
rs229156	0.87[CEU][hapmap]
rs229161	0.91[CEU][hapmap]
rs229171	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs229173	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229176	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs229179	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs229184	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs229190	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs229194	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs229195	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs229200	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs229201	0.91[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs229209	0.91[CEU][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap]
rs229211	0.91[CEU][hapmap]
rs229221	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs229222	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs229227	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs229228	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs229231	0.82[EUR][1000 genomes]
rs229236	0.81[EUR][1000 genomes]
rs229237	0.91[CEU][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs229240	0.81[EUR][1000 genomes]
rs229243	0.81[EUR][1000 genomes]
rs229247	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs230340	0.84[MEX][hapmap]
rs230351	0.91[CEU][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap]
rs230364	0.81[CEU][hapmap]
rs230366	0.91[CEU][hapmap]
rs2378782	0.91[CEU][hapmap]
rs448175	0.91[CEU][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs58049	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6571361	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs7144204	0.83[CEU][hapmap];0.80[GIH][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap]
rs7147530	0.91[CEU][hapmap]
rs7153509	0.91[CEU][hapmap]
rs7154847	0.95[CEU][hapmap];0.91[GIH][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes]
rs7156431	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs8006314	0.82[CEU][hapmap]
rs8012494	0.84[MEX][hapmap]
rs9806111	0.91[CEU][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap]

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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7153747	G2E3	cis	parietal	SCAN
rs7153747	SCFD1	cis	cerebellum	SCAN
rs7153747	SCFD1	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31014600-31027800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:31019200-31023400	Enhancers	NHEK	skin
3	chr14:31019400-31023600	Enhancers	HMEC	breast
4	chr14:31019600-31021200	Enhancers	NHLF	lung
5	chr14:31019800-31023600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:31019800-31024000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:31020000-31021200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:31020400-31021200	Enhancers	Brain Germinal Matrix	brain
9	chr14:31020400-31021200	Enhancers	HepG2	liver
10	chr14:31020400-31021600	Weak transcription	HSMM	muscle
11	chr14:31020600-31021800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:31020800-31021200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr14:31020800-31021200	Enhancers	Fetal Lung	lung
14	chr14:31020800-31021400	Enhancers	A549	lung
15	chr14:31020800-31022000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:31020800-31022200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:31020800-31022400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:31020800-31022400	Weak transcription	Osteobl	bone
19	chr14:31021000-31021200	Enhancers	Small Intestine	intestine
20	chr14:31021000-31021400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:31021000-31022200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr14:31021000-31022200	Weak transcription	NH-A	brain
23	chr14:31021000-31027600	Weak transcription	Colon Smooth Muscle	Colon

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