Variant report

Variant	rs4637872
Chromosome Location	chr8:119293911-119293912
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10110578	0.91[CEU][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs10955869	0.95[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11997306	0.86[EUR][1000 genomes]
rs34345158	0.88[EUR][1000 genomes]
rs4093060	0.83[CEU][hapmap];0.82[LWK][hapmap];0.85[MEX][hapmap];0.82[MKK][hapmap];0.87[TSI][hapmap]
rs6992488	0.81[CEU][hapmap]
rs7000136	0.80[LWK][hapmap];0.85[MEX][hapmap];0.80[TSI][hapmap]
rs7825192	0.89[EUR][1000 genomes]
rs7829943	0.82[CEU][hapmap]
rs9297582	0.95[CEU][hapmap];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv1016379	chr8:119164234-119448910	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv831442	chr8:119181675-119390122	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4637872	DSCC1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119286200-119298800	Weak transcription	Esophagus	oesophagus
2	chr8:119290200-119296600	Enhancers	Primary B cells from peripheral blood	blood
3	chr8:119290400-119295000	Enhancers	Primary B cells from cord blood	blood
4	chr8:119290400-119299000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:119292400-119306200	Weak transcription	Brain Angular Gyrus	brain
6	chr8:119292800-119294200	Weak transcription	Thymus	Thymus
7	chr8:119293000-119294200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:119293000-119303400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:119293200-119294400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:119293200-119303200	Weak transcription	Fetal Thymus	thymus
11	chr8:119293400-119295000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr8:119293600-119294600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:119293600-119295000	Flanking Active TSS	GM12878-XiMat	blood
14	chr8:119293800-119294200	Weak transcription	Adipose Nuclei	Adipose
15	chr8:119293800-119294600	Enhancers	Primary hematopoietic stem cells	blood
16	chr8:119293800-119294800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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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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