Variant report

Variant	rs6969540
Chromosome Location	chr7:137712635-137712636
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10243728	0.94[EUR][1000 genomes]
rs10954597	0.80[AMR][1000 genomes]
rs10954599	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11977965	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11980668	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13240736	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2113439	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2352137	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34080447	0.91[EUR][1000 genomes]
rs34970488	0.83[AMR][1000 genomes]
rs4732282	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4732283	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56083840	0.83[AMR][1000 genomes]
rs6944019	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs713470	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs713471	0.83[AMR][1000 genomes]
rs730865	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][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	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv831151	chr7:137711447-137865471	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137708200-137715000	Enhancers	Primary B cells from cord blood	blood
2	chr7:137708400-137714000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:137708800-137712800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr7:137711000-137715200	Enhancers	Primary B cells from peripheral blood	blood
5	chr7:137711200-137712800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:137711200-137712800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:137711400-137712800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:137711600-137712800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:137711600-137714000	Enhancers	Primary hematopoietic stem cells	blood
10	chr7:137711600-137714200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr7:137711800-137713800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:137711800-137714000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:137711800-137714000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:137712000-137714000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr7:137712200-137713800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr7:137712200-137714200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:137712400-137713000	Enhancers	GM12878-XiMat	blood
18	chr7:137712600-137713400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr7:137712600-137714200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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