Variant report

Variant	rs11133315
Chromosome Location	chr4:55082158-55082159
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs12505491	0.89[JPT][hapmap]
rs12506290	0.88[JPT][hapmap]
rs12506783	0.83[JPT][hapmap]
rs12641563	0.89[JPT][hapmap]
rs12644709	0.89[JPT][hapmap]
rs17084051	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1800809	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1800810	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1800812	1.00[CEU][hapmap];0.87[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1800813	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2229307	0.88[JPT][hapmap]
rs2307049	0.88[JPT][hapmap]
rs4358459	0.88[JPT][hapmap]
rs4368668	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4398585	0.89[JPT][hapmap]
rs4422471	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4608869	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4635872	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4864857	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4864858	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4864859	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4864860	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4864861	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4864862	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4864863	1.00[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60806423	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60863210	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61320297	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6554158	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6554160	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6554163	0.94[CEU][hapmap];0.88[JPT][hapmap]
rs67432867	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6831380	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6832597	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6836215	1.00[CEU][hapmap];0.80[CHB][hapmap];0.88[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6846502	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6850748	1.00[CEU][hapmap];0.88[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73252942	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73252946	0.86[AMR][1000 genomes]
rs7660560	0.88[JPT][hapmap]
rs7673027	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7673597	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7673625	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7673853	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7673984	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7676972	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7676985	0.82[ASN][1000 genomes]
rs7677751	0.83[CEU][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs7678144	1.00[CEU][hapmap];0.88[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7679903	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7681399	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7682912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686588	0.88[JPT][hapmap]
rs7688997	0.88[JPT][hapmap]
rs7689569	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7690503	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7691129	0.88[JPT][hapmap]
rs7698425	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs890203	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs890204	0.84[ASN][1000 genomes]
rs890205	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9991165	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55079000-55083600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:55079400-55083600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr4:55079800-55083600	Weak transcription	Osteobl	bone
4	chr4:55079800-55083800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:55080000-55083600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:55080000-55083800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:55080000-55083800	Weak transcription	Esophagus	oesophagus
8	chr4:55080000-55083800	Weak transcription	Right Ventricle	heart
9	chr4:55080200-55083800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:55080200-55083800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:55080200-55083800	Weak transcription	Ovary	ovary
12	chr4:55080200-55083800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:55080400-55083600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:55080400-55083600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:55080400-55083800	Weak transcription	Hela-S3	cervix
16	chr4:55080400-55083800	Weak transcription	HMEC	breast
17	chr4:55080600-55083600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:55080600-55083600	Weak transcription	Left Ventricle	heart
19	chr4:55080600-55083800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:55080600-55083800	Weak transcription	HUVEC	blood vessel
21	chr4:55080600-55083800	Weak transcription	NHEK	skin
22	chr4:55081200-55083000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:55081600-55082400	Enhancers	NHLF	lung
24	chr4:55081800-55082400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr4:55081800-55082600	Enhancers	NHDF-Ad	bronchial
26	chr4:55081800-55083000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:55082000-55082800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:55082000-55083800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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