Variant report

Variant	rs13399478
Chromosome Location	chr2:183093968-183093969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10165500	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs10171911	1.00[EUR][1000 genomes]
rs10174618	0.91[YRI][hapmap];1.00[EUR][1000 genomes]
rs10181570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10182266	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs10184869	1.00[EUR][1000 genomes]
rs10185985	1.00[EUR][1000 genomes]
rs10197132	1.00[EUR][1000 genomes]
rs10204911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11901012	1.00[EUR][1000 genomes]
rs13383296	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13388735	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs13388823	1.00[EUR][1000 genomes]
rs13400663	0.95[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13403591	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs13406342	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs13416498	1.00[EUR][1000 genomes]
rs13432152	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs16822895	0.91[YRI][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16822899	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823102	1.00[EUR][1000 genomes]
rs1864853	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58264204	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59076821	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6433964	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6740124	0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs6760081	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038165	1.00[EUR][1000 genomes]
rs73977312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73977325	1.00[EUR][1000 genomes]
rs73977328	1.00[EUR][1000 genomes]
rs7561341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7567023	0.95[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7574051	1.00[EUR][1000 genomes]
rs7578466	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][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	nsv583913	chr2:183043563-183243313	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1008825	chr2:183067339-183228668	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv536066	chr2:183067339-183228668	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1805452	chr2:183086478-183107270	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1809585	chr2:183086478-183107270	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183084400-183095200	Weak transcription	Left Ventricle	heart
2	chr2:183085400-183096600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:183088000-183105800	Weak transcription	Aorta	Aorta
4	chr2:183088000-183106000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:183092000-183096000	Enhancers	NHDF-Ad	bronchial
6	chr2:183092200-183096000	Enhancers	NHLF	lung
7	chr2:183092400-183096200	Enhancers	Osteobl	bone
8	chr2:183093000-183094600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:183093000-183096000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:183093200-183094800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:183093200-183096000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:183093400-183095600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:183093800-183094200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:183093800-183094200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr2:183093800-183094200	Enhancers	NH-A	brain
16	chr2:183093800-183096200	Enhancers	HUVEC	blood vessel

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