Variant report

Variant	rs2190047
Chromosome Location	chr7:71309437-71309438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10950281	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10950282	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12699099	0.80[CHB][hapmap];0.80[JPT][hapmap];0.85[ASN][1000 genomes]
rs12699100	0.80[CHB][hapmap];0.86[ASN][1000 genomes]
rs2190048	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62459049	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62459050	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62459051	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs757746	0.84[ASN][1000 genomes]
rs987034	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026896	chr7:71003462-71721516	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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
2	nsv1027496	chr7:71162362-71575116	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv916220	chr7:71200006-71708048	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv531372	chr7:71300090-71909517	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71308800-71309600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:71309200-71310200	Weak transcription	Thymus	Thymus
3	chr7:71309200-71311000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:71309200-71326600	Weak transcription	Fetal Thymus	thymus
5	chr7:71309200-71333200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:71309200-71335800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:71309400-71310800	Enhancers	Dnd41	blood
8	chr7:71309400-71311000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:71309400-71312800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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

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