Variant report

Variant	rs4499118
Chromosome Location	chr13:40044967-40044968
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1014636	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1475176	0.80[CEU][hapmap]
rs2011719	0.83[AMR][1000 genomes]
rs2012553	0.81[AMR][1000 genomes]
rs2018	0.80[CEU][hapmap]
rs2148933	0.84[AMR][1000 genomes]
rs2148934	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2182780	0.81[AMR][1000 genomes]
rs2182781	0.84[AMR][1000 genomes]
rs4340189	0.84[AMR][1000 genomes]
rs4456371	0.84[AMR][1000 genomes]
rs4569130	0.88[MEX][hapmap];0.84[AMR][1000 genomes]
rs4943666	0.80[AMR][1000 genomes]
rs6563706	0.88[MEX][hapmap];0.81[TSI][hapmap];0.85[AMR][1000 genomes]
rs6563707	0.85[AMR][1000 genomes]
rs7319652	0.84[AMR][1000 genomes]
rs7322023	0.85[AMR][1000 genomes]
rs7322026	0.80[CEU][hapmap]
rs7324077	0.83[CEU][hapmap]
rs7326279	0.82[AMR][1000 genomes]
rs7330999	0.84[AMR][1000 genomes]
rs7337916	0.84[AMR][1000 genomes]
rs737645	0.88[MEX][hapmap];0.84[AMR][1000 genomes]
rs7489811	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7981363	0.80[CEU][hapmap]
rs7982627	0.80[CEU][hapmap]
rs7983763	0.83[AMR][1000 genomes]
rs7985325	0.84[AMR][1000 genomes]
rs7990079	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7996782	0.88[MEX][hapmap];0.85[AMR][1000 genomes]
rs7998182	0.83[AMR][1000 genomes]
rs8000420	0.84[AMR][1000 genomes]
rs8002691	0.80[CEU][hapmap]
rs912044	0.80[CEU][hapmap]
rs9315688	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9315691	0.80[CEU][hapmap]
rs9315692	0.80[CEU][hapmap]
rs9548785	0.84[CEU][hapmap]
rs9576805	0.83[AMR][1000 genomes]
rs9576807	0.83[AMR][1000 genomes]
rs9576808	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9576809	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9576810	0.84[AMR][1000 genomes]
rs9576811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9576812	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9594334	0.80[CEU][hapmap]
rs9594335	0.80[CEU][hapmap]
rs9603543	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9603544	0.84[AMR][1000 genomes]
rs9741649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	esv2757529	chr13:40040036-40090742	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2759933	chr13:40040036-40090742	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40037000-40051200	Weak transcription	Ovary	ovary
2	chr13:40037000-40053800	Weak transcription	Fetal Lung	lung
3	chr13:40037200-40045000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:40037200-40045000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:40037400-40045200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr13:40037400-40045400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:40037400-40053400	Weak transcription	Aorta	Aorta
8	chr13:40040800-40045000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:40041600-40057800	Weak transcription	NHDF-Ad	bronchial
10	chr13:40042800-40047600	Weak transcription	Fetal Heart	heart
11	chr13:40043000-40048000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:40043600-40045200	Weak transcription	Right Atrium	heart
13	chr13:40043600-40047800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:40043600-40068200	Weak transcription	Lung	lung
15	chr13:40043800-40047000	Weak transcription	Left Ventricle	heart
16	chr13:40044200-40048800	Weak transcription	Right Ventricle	heart

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