Variant report

Variant	rs2246466
Chromosome Location	chr7:118412359-118412360
allele	C/T
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:39)

rs_ID	r²[population]
rs1357576	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1881868	0.88[AMR][1000 genomes]
rs1881869	0.88[AMR][1000 genomes]
rs1916717	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1919915	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1919918	0.83[AMR][1000 genomes]
rs1919919	1.00[EUR][1000 genomes]
rs2204779	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2222496	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2256842	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2263400	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2440896	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2590583	0.88[AMR][1000 genomes]
rs2590586	0.83[AMR][1000 genomes]
rs2590587	0.83[AMR][1000 genomes]
rs2590593	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2590602	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2590620	0.83[AMR][1000 genomes]
rs2590642	0.83[AMR][1000 genomes]
rs2590643	0.83[AMR][1000 genomes]
rs2590645	1.00[EUR][1000 genomes]
rs2590650	1.00[EUR][1000 genomes]
rs2689718	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2699700	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2699701	1.00[EUR][1000 genomes]
rs2699705	1.00[EUR][1000 genomes]
rs2699706	1.00[EUR][1000 genomes]
rs2699707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2699733	0.88[AMR][1000 genomes]
rs2699735	0.88[AMR][1000 genomes]
rs2699737	0.88[AMR][1000 genomes]
rs2699755	1.00[EUR][1000 genomes]
rs2699756	1.00[EUR][1000 genomes]
rs2699757	1.00[EUR][1000 genomes]
rs2699759	1.00[EUR][1000 genomes]
rs2699768	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2699769	1.00[EUR][1000 genomes]
rs2699770	1.00[EUR][1000 genomes]
rs6974190	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889093	chr7:117977091-118709754	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv831109	chr7:118300593-118501778	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118407400-118414200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:118409600-118414000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:118411400-118412600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:118411600-118413200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:118411800-118412800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:118411800-118414200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:118412200-118414400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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