Variant report

Variant	rs2439638
Chromosome Location	chr8:96208376-96208377
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1465913	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1465914	0.90[JPT][hapmap]
rs1866926	0.88[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2083617	0.86[ASN][1000 genomes]
rs2439632	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2439641	0.90[JPT][hapmap]
rs2514566	0.86[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv523655	chr8:96205920-96239113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv16466	chr8:96206151-96243934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr8:96204600-96212400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:96205000-96213400	Weak transcription	Lung	lung
3	chr8:96205600-96210200	Weak transcription	HMEC	breast
4	chr8:96205600-96213800	Weak transcription	Thymus	Thymus
5	chr8:96206200-96210000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:96206400-96215000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:96206800-96208800	Enhancers	Hela-S3	cervix
8	chr8:96207000-96209200	Enhancers	Esophagus	oesophagus
9	chr8:96207400-96212800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:96207800-96208400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:96208000-96208400	Enhancers	Primary B cells from peripheral blood	blood
12	chr8:96208200-96208600	Enhancers	Gastric	stomach
13	chr8:96208200-96208600	Enhancers	Right Atrium	heart
14	chr8:96208200-96209000	Enhancers	Placenta	Placenta
15	chr8:96208200-96209000	Enhancers	Right Ventricle	heart
16	chr8:96208200-96209000	Enhancers	Stomach Mucosa	stomach
17	chr8:96208200-96209200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:96208200-96211000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:96208200-96211200	Enhancers	NHEK	skin

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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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