Variant report

Variant	rs1848953
Chromosome Location	chr4:91379093-91379094
allele	A/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:12)

rs_ID	r²[population]
rs10001531	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10017735	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10027366	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10029416	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1581062	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs1606037	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17017003	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2089780	1.00[AMR][1000 genomes]
rs28416577	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28595890	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28782772	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9995047	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470053	chr4:90879613-91439573	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv931074	chr4:90970476-91753697	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1007826	chr4:91049593-91438961	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv537177	chr4:91049593-91438961	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv999065	chr4:91049593-91520073	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1830936	chr4:91287204-91546380	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv534470	chr4:91342219-91842807	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91376600-91379400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:91376800-91379400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr4:91377600-91379600	ZNF genes & repeats	Fetal Intestine Small	intestine
4	chr4:91378200-91379400	ZNF genes & repeats	Fetal Stomach	stomach
5	chr4:91378200-91379800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:91378600-91379200	ZNF genes & repeats	Thymus	Thymus
7	chr4:91378800-91379200	ZNF genes & repeats	Fetal Intestine Large	intestine
8	chr4:91378800-91379400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:91378800-91379800	Weak transcription	Pancreas	Pancrea
10	chr4:91378800-91396800	Weak transcription	Gastric	stomach
11	chr4:91379000-91379400	ZNF genes & repeats	Spleen	Spleen
12	chr4:91379000-91379800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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

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