Variant report

Variant	rs11945395
Chromosome Location	chr4:20290224-20290225
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10516349	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11946304	0.93[CEU][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11947835	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17534458	0.83[CEU][hapmap]
rs17600601	0.80[EUR][1000 genomes]
rs17601458	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17608777	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2322429	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55643621	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61790833	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61790834	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878738	chr4:20255306-20300192	Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv878739	chr4:20255306-20307922	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv461287	chr4:20261786-20292239	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv593791	chr4:20261786-20292239	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv593792	chr4:20275477-20362716	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv593793	chr4:20282334-20333722	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20258200-20299400	Weak transcription	Fetal Stomach	stomach
2	chr4:20278800-20290400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:20278800-20298000	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:20281800-20294000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr4:20284600-20290400	Strong transcription	Fetal Lung	lung
6	chr4:20285400-20290400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:20285400-20290600	Enhancers	NHEK	skin
8	chr4:20286200-20292400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:20286600-20291800	Enhancers	HMEC	breast
10	chr4:20286800-20291800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:20287400-20298200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:20288600-20290400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:20288600-20290600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:20288600-20290800	Enhancers	NH-A	brain
15	chr4:20288600-20290800	Enhancers	NHLF	lung
16	chr4:20288600-20291600	Enhancers	Osteobl	bone
17	chr4:20289200-20290400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:20289200-20291800	Enhancers	HUVEC	blood vessel
19	chr4:20289200-20292200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr4:20289200-20292200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:20289800-20290600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:20289800-20290600	Enhancers	Esophagus	oesophagus
23	chr4:20289800-20291200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:20290000-20290400	Enhancers	NHDF-Ad	bronchial
25	chr4:20290200-20291800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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