Variant report

Variant	rs2994686
Chromosome Location	chr1:175807980-175807981
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16849314	1.00[AMR][1000 genomes]
rs16849325	1.00[AMR][1000 genomes]
rs16849347	1.00[AMR][1000 genomes]
rs476146	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs491240	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs508911	1.00[AMR][1000 genomes]
rs511759	1.00[AMR][1000 genomes]
rs531377	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs535108	1.00[AMR][1000 genomes]
rs539235	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs545497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs548159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs556934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs560031	1.00[AMR][1000 genomes]
rs74129347	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	esv33328	chr1:175446583-175910001	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv872560	chr1:175648631-175869554	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175804200-175808800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:175804200-175809000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:175804200-175810600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:175804400-175808800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:175804600-175809000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:175804600-175809000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:175804800-175808600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:175804800-175808800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:175805000-175808600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:175805000-175809000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:175806000-175808800	Weak transcription	Fetal Intestine Small	intestine
12	chr1:175806600-175808000	Weak transcription	Hela-S3	cervix
13	chr1:175806600-175808200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:175806600-175817200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:175807600-175808200	Enhancers	Fetal Intestine Large	intestine

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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