Variant report

Variant	rs11157040
Chromosome Location	chr14:39495410-39495411
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10872914	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10872915	0.92[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap]
rs11157039	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11558739	0.85[CEU][hapmap]
rs11628065	0.92[CEU][hapmap];0.88[GIH][hapmap];0.85[MEX][hapmap];0.81[TSI][hapmap];0.83[YRI][hapmap]
rs12432236	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap]
rs12435383	0.90[CEU][hapmap];0.96[YRI][hapmap]
rs12436766	0.85[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.81[TSI][hapmap]
rs17108710	0.94[ASN][1000 genomes]
rs17108729	0.94[ASN][1000 genomes]
rs17108735	0.94[ASN][1000 genomes]
rs17108737	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17616038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17616116	0.85[CEU][hapmap];0.83[CHB][hapmap];0.80[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1884385	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2038358	0.85[ASN][1000 genomes]
rs2273316	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap];0.87[YRI][hapmap]
rs2415523	0.94[ASN][1000 genomes]
rs4902326	0.85[ASN][1000 genomes]
rs56869057	0.94[ASN][1000 genomes]
rs57014289	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58589656	0.92[ASN][1000 genomes]
rs60444423	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62001129	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7157388	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8005437	0.94[ASN][1000 genomes]
rs8007642	0.92[ASN][1000 genomes]
rs9322995	0.85[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.81[TSI][hapmap]
rs970622	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788627	0.85[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.81[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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv564417	chr14:39452317-39535560	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39465600-39498200	Weak transcription	NH-A	brain
2	chr14:39469200-39497400	Weak transcription	HSMM	muscle
3	chr14:39473400-39498800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:39479600-39498000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr14:39480200-39499000	Weak transcription	NHDF-Ad	bronchial
6	chr14:39482800-39499200	Weak transcription	Right Ventricle	heart
7	chr14:39485200-39498600	Weak transcription	Aorta	Aorta
8	chr14:39486000-39498600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:39486400-39497400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:39486400-39498600	Weak transcription	HSMMtube	muscle
11	chr14:39486600-39498600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:39486800-39498800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:39487000-39498000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:39487000-39499400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr14:39487200-39498600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr14:39487200-39498600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr14:39487200-39508600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:39491400-39499200	Weak transcription	NHEK	skin
19	chr14:39492000-39498800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:39492600-39495600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr14:39492600-39496400	Enhancers	Fetal Intestine Large	intestine
22	chr14:39492600-39496400	Enhancers	Fetal Intestine Small	intestine
23	chr14:39492600-39498800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr14:39492800-39495800	Enhancers	Stomach Mucosa	stomach
25	chr14:39492800-39495800	Flanking Active TSS	HepG2	liver
26	chr14:39492800-39496400	Enhancers	Liver	Liver
27	chr14:39493000-39498000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:39493200-39498400	Weak transcription	Fetal Brain Female	brain
29	chr14:39493400-39496400	Weak transcription	GM12878-XiMat	blood
30	chr14:39493400-39497800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:39493400-39497800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:39493400-39498800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:39493400-39505800	Weak transcription	Psoas Muscle	Psoas
34	chr14:39493600-39498200	Weak transcription	HMEC	breast
35	chr14:39493600-39499000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:39493800-39498200	Weak transcription	Primary T cells from cord blood	blood
37	chr14:39493800-39499000	Weak transcription	NHLF	lung
38	chr14:39494000-39498600	Weak transcription	Adipose Nuclei	Adipose
39	chr14:39494000-39498800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr14:39494200-39495600	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr14:39494400-39497800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:39494600-39495600	Enhancers	Primary hematopoietic stem cells	blood
43	chr14:39494800-39498600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr14:39494800-39499000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr14:39494800-39499000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr14:39495000-39496200	Enhancers	HUVEC	blood vessel
47	chr14:39495000-39497400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr14:39495000-39498000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr14:39495000-39499000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr14:39495200-39495600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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