Variant report

Variant	rs10447230
Chromosome Location	chr5:147694830-147694831
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10037368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10040393	1.00[AMR][1000 genomes]
rs10040505	1.00[ASW][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10042851	1.00[AMR][1000 genomes]
rs10044087	1.00[AMR][1000 genomes]
rs10045091	1.00[AMR][1000 genomes]
rs10045756	1.00[AMR][1000 genomes]
rs10052377	1.00[AMR][1000 genomes]
rs10056478	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10057961	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10065391	1.00[AMR][1000 genomes]
rs10066963	1.00[AMR][1000 genomes]
rs10068025	1.00[AMR][1000 genomes]
rs10068442	1.00[AMR][1000 genomes]
rs10069937	1.00[AMR][1000 genomes]
rs10070008	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10070268	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10071193	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10072138	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10076153	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10077891	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10079807	1.00[AMR][1000 genomes]
rs10476893	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10477375	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10477377	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11953609	1.00[AMR][1000 genomes]
rs12332247	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13328218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13356990	1.00[AMR][1000 genomes]
rs28477447	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28488637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28503435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57679720	1.00[AMR][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	nsv883015	chr5:147404281-147751035	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv599945	chr5:147649181-147720487	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv965612	chr5:147692551-147695193	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv1801220	chr5:147694648-147705789	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147689000-147699600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:147693600-147695000	Enhancers	Right Atrium	heart
3	chr5:147693800-147695200	Enhancers	Fetal Brain Male	brain
4	chr5:147693800-147699600	Weak transcription	Esophagus	oesophagus
5	chr5:147694000-147695000	Enhancers	Fetal Brain Female	brain
6	chr5:147694200-147699600	Weak transcription	Left Ventricle	heart
7	chr5:147694600-147695800	Enhancers	Ovary	ovary
8	chr5:147694800-147695000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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