Variant report

Variant	rs2865414
Chromosome Location	chr4:96168719-96168720
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11730446	0.89[ASW][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.90[MEX][hapmap];0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs11737434	0.86[CHB][hapmap]
rs12642020	0.91[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs13118653	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13119920	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17023311	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2865415	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs35779969	0.91[ASN][1000 genomes]
rs35780120	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs36040316	0.81[ASN][1000 genomes]
rs3733210	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3775002	0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[TSI][hapmap]
rs3775053	0.91[CHB][hapmap]
rs4699412	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.86[ASN][1000 genomes]
rs4699413	1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs4699414	1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs4699415	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs4699836	1.00[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs4699837	1.00[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.88[ASN][1000 genomes]
rs62319064	0.81[AMR][1000 genomes]
rs6846193	0.87[CHB][hapmap]
rs7434638	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.86[ASN][1000 genomes]
rs7439701	1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs7440613	0.91[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs9637615	0.83[CHB][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv594907	chr4:95975470-96170439	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv879623	chr4:96123466-96168719	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv879624	chr4:96147860-96183532	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv879625	chr4:96147860-96189813	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96134600-96176800	Weak transcription	Fetal Stomach	stomach
2	chr4:96153200-96189600	Weak transcription	Fetal Kidney	kidney
3	chr4:96154600-96172000	Weak transcription	Brain Substantia Nigra	brain
4	chr4:96154600-96176800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr4:96160400-96169400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:96162000-96176800	Weak transcription	Brain Anterior Caudate	brain
7	chr4:96162400-96168800	Weak transcription	Brain Angular Gyrus	brain
8	chr4:96163800-96177200	Weak transcription	Aorta	Aorta
9	chr4:96164000-96169800	Weak transcription	Fetal Lung	lung
10	chr4:96164000-96170000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr4:96164000-96170200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:96164000-96171200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:96164000-96177000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:96164200-96169600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:96164200-96170000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:96166400-96168800	Weak transcription	K562	blood
17	chr4:96166400-96172400	Weak transcription	Spleen	Spleen
18	chr4:96166400-96177200	Weak transcription	Left Ventricle	heart
19	chr4:96168200-96170800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:96168600-96169800	Enhancers	Brain Hippocampus Middle	brain

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