Variant report

Variant	rs2117217
Chromosome Location	chr8:120664291-120664292
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120663934..120665883-chr8:120676551..120678630,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10108101	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10955934	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11778296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11996390	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1355174	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16892900	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs16892938	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16893214	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17215053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17818097	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17818440	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17818446	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17818842	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1865292	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2060377	0.86[ASN][1000 genomes]
rs2063283	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2063284	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34872621	0.93[ASN][1000 genomes]
rs56224112	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6469845	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6989803	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6994085	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6999808	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7002501	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7003687	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7007970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7013772	0.86[ASN][1000 genomes]
rs72690132	1.00[AFR][1000 genomes]
rs7815389	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7821416	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7827811	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7828086	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7837894	1.00[JPT][hapmap]
rs9297606	1.00[JPT][hapmap]
rs953614	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9650078	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs987534	0.85[ASN][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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers 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	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2117217	DSCC1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120651800-120667600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:120661000-120667600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:120662600-120664600	Enhancers	Adipose Nuclei	Adipose
4	chr8:120662600-120666000	Enhancers	Brain Hippocampus Middle	brain
5	chr8:120662600-120666000	Enhancers	Brain Substantia Nigra	brain
6	chr8:120662800-120666200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr8:120663400-120664400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr8:120663400-120666800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr8:120663400-120667000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr8:120663600-120666800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:120663600-120666800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:120663600-120668000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:120664200-120664400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:120664200-120664800	Weak transcription	Brain Anterior Caudate	brain
15	chr8:120664200-120666000	Enhancers	Brain Angular Gyrus	brain
16	chr8:120664200-120667000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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