Variant report

Variant	rs11734577
Chromosome Location	chr4:152095109-152095110
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10020317	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10030785	0.83[GIH][hapmap]
rs10434137	0.85[ASW][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap]
rs10461253	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10461254	0.90[ASN][1000 genomes]
rs10461255	0.91[ASN][1000 genomes]
rs10520101	0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs10520102	0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs10776522	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10857253	0.86[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10857254	0.86[GIH][hapmap]
rs11099781	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap]
rs11099792	0.81[ASN][1000 genomes]
rs11099793	0.81[ASN][1000 genomes]
rs11733964	0.86[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11734586	0.86[GIH][hapmap]
rs11934792	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]
rs11938266	0.86[GIH][hapmap]
rs11938717	0.81[ASN][1000 genomes]
rs11945206	0.83[EUR][1000 genomes]
rs12505974	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12508270	0.85[JPT][hapmap]
rs12644496	0.93[ASW][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[MKK][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12647306	0.93[ASW][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.92[MKK][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12648512	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13101417	0.86[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs13111753	0.92[ASN][1000 genomes]
rs13122245	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13122609	0.80[ASN][1000 genomes]
rs13125574	0.93[ASN][1000 genomes]
rs13130167	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13141515	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs13145829	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1549512	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap]
rs17633530	0.85[JPT][hapmap]
rs17633600	0.85[JPT][hapmap]
rs1875308	0.81[GIH][hapmap]
rs2280280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2280283	0.85[JPT][hapmap]
rs2407167	0.81[GIH][hapmap]
rs2407168	0.83[GIH][hapmap]
rs2407220	0.81[GIH][hapmap]
rs2407221	0.81[GIH][hapmap]
rs2407222	0.83[EUR][1000 genomes]
rs2407406	0.86[GIH][hapmap]
rs2407407	0.81[ASN][1000 genomes]
rs2407408	0.81[ASN][1000 genomes]
rs2407409	0.81[ASN][1000 genomes]
rs2407410	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2407412	0.85[ASW][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.94[MKK][hapmap];0.81[ASN][1000 genomes]
rs2407417	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2407418	0.82[ASN][1000 genomes]
rs2407431	1.00[ASN][1000 genomes]
rs2407438	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2897655	0.81[ASN][1000 genomes]
rs2897656	0.81[ASN][1000 genomes]
rs2897657	0.86[GIH][hapmap]
rs2897659	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.81[ASN][1000 genomes]
rs3736502	0.85[JPT][hapmap]
rs3792611	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4266274	0.85[ASW][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[MKK][hapmap];0.94[ASN][1000 genomes]
rs4696226	0.84[GIH][hapmap]
rs4696229	0.86[GIH][hapmap]
rs4696234	0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.81[ASN][1000 genomes]
rs4696235	0.86[GIH][hapmap]
rs4696658	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.93[MEX][hapmap];0.83[MKK][hapmap];0.94[TSI][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6535763	0.84[GIH][hapmap]
rs6535764	0.85[JPT][hapmap]
rs6816613	0.81[ASN][1000 genomes]
rs6816651	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6818874	0.81[ASN][1000 genomes]
rs6819599	0.84[GIH][hapmap]
rs6826863	0.84[GIH][hapmap]
rs6827056	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6832257	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6844546	0.94[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6846323	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.93[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6846981	0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6847927	0.86[GIH][hapmap]
rs6848445	1.00[CEU][hapmap]
rs6850311	0.81[GIH][hapmap]
rs7439970	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7656771	0.85[JPT][hapmap]
rs7659146	0.86[GIH][hapmap]
rs7664483	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.93[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7668154	0.86[GIH][hapmap]
rs7669180	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.93[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7690329	0.86[GIH][hapmap]
rs7691584	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv949002	chr4:151693149-152095109	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS 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
5	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
6	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
7	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
8	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
9	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
10	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
11	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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152027200-152095600	Weak transcription	Pancreas	Pancrea
2	chr4:152043400-152095800	Weak transcription	Placenta	Placenta
3	chr4:152055000-152105800	Weak transcription	Small Intestine	intestine
4	chr4:152066000-152095200	Weak transcription	Esophagus	oesophagus
5	chr4:152066200-152095800	Weak transcription	Gastric	stomach
6	chr4:152066400-152095800	Weak transcription	Aorta	Aorta
7	chr4:152079400-152095800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr4:152082400-152095600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:152084400-152095600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:152084400-152095800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:152085400-152095400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr4:152087600-152095400	Weak transcription	Right Atrium	heart
13	chr4:152088000-152096200	Weak transcription	A549	lung
14	chr4:152088000-152101600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr4:152088200-152095800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:152088200-152114600	Weak transcription	Psoas Muscle	Psoas
17	chr4:152089200-152095400	Weak transcription	Lung	lung
18	chr4:152089200-152097800	Strong transcription	Duodenum Mucosa	Duodenum
19	chr4:152089200-152098000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:152089400-152095200	Weak transcription	Left Ventricle	heart
21	chr4:152089800-152095600	Enhancers	Colon Smooth Muscle	Colon
22	chr4:152090000-152095200	Enhancers	Rectal Smooth Muscle	rectum
23	chr4:152090200-152095200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:152090200-152096200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr4:152090400-152095200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:152090400-152095200	Weak transcription	Fetal Muscle Leg	muscle
27	chr4:152090400-152105800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:152090600-152097600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:152090800-152095400	Weak transcription	Right Ventricle	heart
30	chr4:152090800-152095800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr4:152090800-152096200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:152091000-152095600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:152091200-152103800	Weak transcription	Fetal Brain Male	brain
34	chr4:152091200-152107000	Weak transcription	HSMMtube	muscle
35	chr4:152091400-152095200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:152091400-152095600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr4:152091400-152095600	Weak transcription	Osteobl	bone
38	chr4:152091600-152095800	Weak transcription	NHEK	skin
39	chr4:152092000-152098400	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr4:152092200-152097200	Weak transcription	Fetal Kidney	kidney
41	chr4:152092400-152095400	Weak transcription	Brain Anterior Caudate	brain
42	chr4:152092600-152098000	Strong transcription	HUVEC	blood vessel
43	chr4:152092600-152098600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr4:152092800-152095200	Weak transcription	Brain Hippocampus Middle	brain
45	chr4:152092800-152095400	Weak transcription	Brain Substantia Nigra	brain
46	chr4:152092800-152098400	Strong transcription	NH-A	brain
47	chr4:152093000-152095200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr4:152093000-152095200	Weak transcription	Fetal Intestine Small	intestine
49	chr4:152093200-152098400	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr4:152093400-152097800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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