Variant report

Variant	rs6990620
Chromosome Location	chr8:10501886-10501887
allele	C/G
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:4)

rs_ID	r²[population]
rs11250050	0.84[EUR][1000 genomes]
rs11784144	1.00[JPT][hapmap]
rs4841402	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6982736	0.93[ASN][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	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10494600-10508400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:10494800-10503200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:10495400-10512000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:10495800-10503400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:10500600-10502000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:10500600-10503600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:10500800-10502400	Enhancers	HMEC	breast
8	chr8:10500800-10502600	Enhancers	NHEK	skin
9	chr8:10501000-10502000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:10501200-10502400	Enhancers	Esophagus	oesophagus
11	chr8:10501400-10502400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:10501800-10502200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:10501800-10502200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:10501800-10502600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:10501800-10502600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr8:10501800-10502600	Enhancers	Hela-S3	cervix

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

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