Variant report

Variant	rs11099788
Chromosome Location	chr4:152085448-152085449
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10000557	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10001039	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10005907	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10011421	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10016998	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10017154	0.87[EUR][1000 genomes]
rs10030785	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10032477	0.93[ASN][1000 genomes]
rs10213332	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10222881	1.00[JPT][hapmap]
rs1046168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10776521	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776523	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857254	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10857255	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857256	0.83[ASN][1000 genomes]
rs10964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11099782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11099783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11099787	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11099790	0.87[ASN][1000 genomes]
rs11099791	1.00[ASN][1000 genomes]
rs11099794	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11099795	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11723219	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11726180	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11729981	0.93[ASN][1000 genomes]
rs11730087	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11734586	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11938266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11943477	1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12500168	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500223	0.93[ASN][1000 genomes]
rs12507657	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13123932	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13125574	1.00[JPT][hapmap]
rs13146584	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13149045	0.93[ASN][1000 genomes]
rs1316364	0.93[ASN][1000 genomes]
rs1320006	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1320007	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1320192	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1878796	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2407406	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2407411	1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2407414	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2407415	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2407424	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2407425	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2407426	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2407427	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2407428	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2407429	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2407430	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2407439	0.93[ASN][1000 genomes]
rs2407440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2407441	0.88[ASN][1000 genomes]
rs2897657	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2897660	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4434229	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4616734	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4640649	0.90[ASN][1000 genomes]
rs4696226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4696227	0.80[ASN][1000 genomes]
rs4696229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4696235	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4696237	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4696648	1.00[JPT][hapmap]
rs6535763	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6535765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6535766	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6535767	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6535775	0.88[ASN][1000 genomes]
rs6535776	0.93[ASN][1000 genomes]
rs6812695	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6815608	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6819599	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6823953	1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6825613	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6825952	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6826863	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6828937	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6829963	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6833956	1.00[JPT][hapmap]
rs6837905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838301	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6838845	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6847669	0.93[ASN][1000 genomes]
rs6847927	1.00[CHB][hapmap]
rs6853215	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6856569	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6858377	0.81[EUR][1000 genomes]
rs7659146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7666751	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7668154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7678748	1.00[JPT][hapmap]
rs7681030	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7683092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7687117	0.93[ASN][1000 genomes]
rs7689095	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7690329	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7695005	0.93[ASN][1000 genomes]
rs938990	0.92[EUR][1000 genomes];0.93[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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152027000-152086600	Weak transcription	Fetal Kidney	kidney
2	chr4:152027200-152095600	Weak transcription	Pancreas	Pancrea
3	chr4:152043400-152095800	Weak transcription	Placenta	Placenta
4	chr4:152047400-152087800	Weak transcription	Psoas Muscle	Psoas
5	chr4:152050600-152087000	Weak transcription	HSMMtube	muscle
6	chr4:152051600-152087200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:152055000-152105800	Weak transcription	Small Intestine	intestine
8	chr4:152059200-152087000	Weak transcription	Fetal Heart	heart
9	chr4:152062200-152090000	Weak transcription	Brain Anterior Caudate	brain
10	chr4:152064200-152087400	Weak transcription	A549	lung
11	chr4:152065000-152091800	Weak transcription	HMEC	breast
12	chr4:152065400-152087800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:152065600-152089200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:152065800-152086600	Weak transcription	NHLF	lung
15	chr4:152065800-152086800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:152066000-152087000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:152066000-152095200	Weak transcription	Esophagus	oesophagus
18	chr4:152066200-152092600	Weak transcription	Colonic Mucosa	Colon
19	chr4:152066200-152095800	Weak transcription	Gastric	stomach
20	chr4:152066400-152095800	Weak transcription	Aorta	Aorta
21	chr4:152067000-152090000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:152069200-152090000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr4:152069400-152090000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr4:152069600-152086400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:152069600-152087800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr4:152069600-152087800	Weak transcription	Right Ventricle	heart
27	chr4:152069600-152087800	Weak transcription	HSMM	muscle
28	chr4:152069600-152089200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:152069800-152087200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr4:152070800-152086600	Weak transcription	Osteobl	bone
31	chr4:152070800-152086800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr4:152070800-152089400	Weak transcription	Colon Smooth Muscle	Colon
33	chr4:152070800-152093800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr4:152071000-152090000	Weak transcription	NH-A	brain
35	chr4:152074000-152088000	Strong transcription	Fetal Intestine Large	intestine
36	chr4:152074800-152086400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr4:152076000-152086600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:152076000-152086800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:152079200-152089200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:152079200-152090000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr4:152079400-152086400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr4:152079400-152095800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr4:152080400-152090600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr4:152080600-152090800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr4:152081200-152086400	Weak transcription	NHDF-Ad	bronchial
46	chr4:152082400-152086600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:152082400-152095600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr4:152083400-152085600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:152083400-152085600	Strong transcription	Left Ventricle	heart
50	chr4:152083400-152087000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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