Variant report

Variant	rs11934792
Chromosome Location	chr4:152097962-152097963
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10016092	0.82[EUR][1000 genomes]
rs10020297	0.82[EUR][1000 genomes]
rs10020317	0.93[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.94[MKK][hapmap];0.99[ASN][1000 genomes]
rs10434137	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs10461253	0.84[ASN][1000 genomes]
rs10461254	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10461255	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10520101	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs10520102	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs10776522	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10857253	0.80[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11099781	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs11099792	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11099793	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11099796	0.84[EUR][1000 genomes]
rs11733964	0.80[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.81[ASN][1000 genomes]
rs11734577	0.93[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.93[MEX][hapmap];0.97[MKK][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11938717	0.81[ASN][1000 genomes]
rs12505974	0.93[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.89[ASN][1000 genomes]
rs12508270	0.85[JPT][hapmap]
rs12644496	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12647306	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12648512	0.99[ASN][1000 genomes]
rs13101417	0.80[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13103344	0.82[EUR][1000 genomes]
rs13111753	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13122245	0.90[ASN][1000 genomes]
rs13122609	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13125574	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13130167	0.90[ASN][1000 genomes]
rs13141515	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs13145829	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.81[ASN][1000 genomes]
rs1549512	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs17633530	0.85[JPT][hapmap]
rs17633600	0.85[JPT][hapmap]
rs2280280	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2280283	0.85[JPT][hapmap]
rs2407223	0.82[EUR][1000 genomes]
rs2407407	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2407408	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2407409	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2407410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2407412	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2407417	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2407418	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2407431	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2407438	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2897655	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2897656	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2897659	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3736502	0.85[JPT][hapmap]
rs3792611	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4266274	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4467540	0.82[EUR][1000 genomes]
rs4591577	0.82[EUR][1000 genomes]
rs4696234	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4696239	0.81[EUR][1000 genomes]
rs4696658	0.93[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.83[ASN][1000 genomes]
rs6535764	0.85[JPT][hapmap]
rs6816613	0.81[ASN][1000 genomes]
rs6816651	0.81[ASN][1000 genomes]
rs6818874	0.81[ASN][1000 genomes]
rs6827056	0.90[ASN][1000 genomes]
rs6832257	0.90[ASN][1000 genomes]
rs6844546	0.81[ASN][1000 genomes]
rs6846323	0.93[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.87[MEX][hapmap];0.94[MKK][hapmap];0.91[ASN][1000 genomes]
rs6846981	0.90[ASN][1000 genomes]
rs7439970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs7656771	0.85[JPT][hapmap]
rs7664483	0.93[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[ASN][1000 genomes]
rs7669180	0.93[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.87[MEX][hapmap];0.94[MKK][hapmap];0.90[ASN][1000 genomes]
rs7688786	0.84[EUR][1000 genomes]
rs7691584	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv595690	chr4:151788955-152109552	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv1026416	chr4:151847403-152105879	Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv1016220	chr4:151997139-152164126	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv537306	chr4:151997139-152164126	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152055000-152105800	Weak transcription	Small Intestine	intestine
2	chr4:152088000-152101600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:152088200-152114600	Weak transcription	Psoas Muscle	Psoas
4	chr4:152089200-152098000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:152090400-152105800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:152091200-152103800	Weak transcription	Fetal Brain Male	brain
7	chr4:152091200-152107000	Weak transcription	HSMMtube	muscle
8	chr4:152092000-152098400	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr4:152092600-152098000	Strong transcription	HUVEC	blood vessel
10	chr4:152092600-152098600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:152092800-152098400	Strong transcription	NH-A	brain
12	chr4:152093200-152098400	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr4:152093400-152098200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:152093400-152098400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:152093400-152098600	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr4:152093600-152098400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:152093800-152098000	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:152093800-152098400	Strong transcription	Liver	Liver
19	chr4:152094000-152098400	Strong transcription	HepG2	liver
20	chr4:152094200-152098200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:152094800-152100600	Strong transcription	HSMM	muscle
22	chr4:152095000-152098400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:152095400-152098000	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:152095400-152098000	Genic enhancers	Brain Substantia Nigra	brain
25	chr4:152095400-152098400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:152095600-152098200	Strong transcription	Osteobl	bone
27	chr4:152095600-152098400	Strong transcription	NHDF-Ad	bronchial
28	chr4:152095600-152098400	Strong transcription	NHLF	lung
29	chr4:152095800-152098200	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:152095800-152105600	Weak transcription	Stomach Mucosa	stomach
31	chr4:152096200-152098200	Strong transcription	Fetal Muscle Trunk	muscle
32	chr4:152096400-152098200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:152096400-152098200	Strong transcription	Left Ventricle	heart
34	chr4:152096400-152099400	Strong transcription	Fetal Intestine Small	intestine
35	chr4:152096400-152101200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:152096400-152103200	Weak transcription	Esophagus	oesophagus
37	chr4:152096600-152098200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:152096600-152098200	Strong transcription	Adipose Nuclei	Adipose
39	chr4:152096600-152098200	Strong transcription	Fetal Muscle Leg	muscle
40	chr4:152096600-152098400	Strong transcription	Fetal Intestine Large	intestine
41	chr4:152096600-152105600	Weak transcription	Gastric	stomach
42	chr4:152096600-152106200	Weak transcription	Right Ventricle	heart
43	chr4:152096600-152106200	Weak transcription	NHEK	skin
44	chr4:152096600-152118000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:152096800-152098000	Weak transcription	Right Atrium	heart
46	chr4:152096800-152099200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:152096800-152099600	Weak transcription	HMEC	breast
48	chr4:152096800-152100200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr4:152096800-152102400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:152096800-152106400	Weak transcription	H9 Cell Line	embryonic stem cell

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