Variant report

Variant	rs57431143
Chromosome Location	chr2:111512866-111512867
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs55693530	1.00[AMR][1000 genomes]
rs56019085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57166069	1.00[AMR][1000 genomes]
rs58130587	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61124407	0.89[AFR][1000 genomes]
rs61203060	0.88[AFR][1000 genomes]
rs61392982	0.94[AFR][1000 genomes]
rs73954668	1.00[AMR][1000 genomes]
rs73954672	1.00[AMR][1000 genomes]
rs73956434	0.94[AFR][1000 genomes]
rs73956436	0.82[AFR][1000 genomes]
rs73956437	0.94[AFR][1000 genomes]
rs73956439	0.94[AFR][1000 genomes]
rs73956441	0.94[AFR][1000 genomes]
rs73956450	0.82[AFR][1000 genomes]
rs73956451	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111511800-111513000	Weak transcription	Fetal Heart	heart
2	chr2:111512400-111513200	Enhancers	Dnd41	blood
3	chr2:111512400-111513600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:111512600-111513000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr2:111512600-111513000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:111512600-111513000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:111512600-111513000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:111512600-111513200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:111512600-111513200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:111512600-111513200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:111512800-111513200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr2:111512800-111513200	Enhancers	Colon Smooth Muscle	Colon
13	chr2:111512800-111513200	Enhancers	Fetal Brain Male	brain
14	chr2:111512800-111513200	Enhancers	K562	blood

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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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