Variant report

Variant	rs11944837
Chromosome Location	chr4:22189177-22189178
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10000829	1.00[EUR][1000 genomes]
rs10017087	1.00[EUR][1000 genomes]
rs10029008	1.00[EUR][1000 genomes]
rs10029089	1.00[EUR][1000 genomes]
rs10029265	1.00[EUR][1000 genomes]
rs13117670	1.00[EUR][1000 genomes]
rs28490882	1.00[EUR][1000 genomes]
rs28521540	1.00[EUR][1000 genomes]
rs28660699	1.00[EUR][1000 genomes]
rs28667991	1.00[EUR][1000 genomes]
rs28703830	1.00[EUR][1000 genomes]
rs28729399	1.00[EUR][1000 genomes]
rs28882371	1.00[EUR][1000 genomes]
rs6448148	1.00[EUR][1000 genomes]
rs7662891	1.00[EUR][1000 genomes]
rs7693660	1.00[EUR][1000 genomes]
rs980589	1.00[EUR][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	nsv817467	chr4:21602921-22422816	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2757925	chr4:22011581-22230718	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2759232	chr4:22011581-22230718	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv829881	chr4:22084704-22254679	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv593822	chr4:22165174-22246276	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22184200-22192000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:22184600-22192000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:22186000-22189200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:22187400-22189200	Enhancers	HMEC	breast
5	chr4:22187800-22189400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr4:22188000-22189400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr4:22188200-22189200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:22188200-22189200	Enhancers	NHEK	skin
9	chr4:22188200-22189400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:22188200-22189400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:22188600-22189200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr4:22189000-22189200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:22189000-22189200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr4:22189000-22189400	Enhancers	HUES64 Cell Line	embryonic stem cell

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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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