Variant report

Variant	rs9866193
Chromosome Location	chr3:179753553-179753554
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:179750882..179753749-chr3:179769814..179771907,2	K562	blood:
2	chr3:179750786..179753749-chr3:179769814..179771387,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11713335	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13324196	0.83[ASN][1000 genomes]
rs13325101	0.97[ASN][1000 genomes]
rs13325206	0.83[ASN][1000 genomes]
rs1522115	0.86[CHD][hapmap];0.93[JPT][hapmap]
rs1529269	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1851351	0.82[ASN][1000 genomes]
rs1851352	0.99[ASN][1000 genomes]
rs1851353	0.99[ASN][1000 genomes]
rs2056598	0.88[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2204095	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2339932	0.88[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[ASN][1000 genomes]
rs56397887	0.83[ASN][1000 genomes]
rs61623675	0.85[ASN][1000 genomes]
rs6443687	0.83[ASN][1000 genomes]
rs6443688	0.83[ASN][1000 genomes]
rs6764772	0.88[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs6788776	0.97[ASN][1000 genomes]
rs6797922	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6800148	0.86[CHD][hapmap];0.93[JPT][hapmap]
rs73883479	0.83[ASN][1000 genomes]
rs7614706	0.82[ASN][1000 genomes]
rs7640838	0.99[ASN][1000 genomes]
rs939824	0.83[ASN][1000 genomes]
rs939825	0.83[ASN][1000 genomes]
rs940522	0.86[CHD][hapmap];0.93[JPT][hapmap]
rs9816641	0.94[CEU][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9826864	0.88[ASW][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[ASN][1000 genomes]
rs9828423	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9828621	0.86[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs9833738	0.85[ASN][1000 genomes]
rs9856007	0.88[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[ASN][1000 genomes]
rs9858631	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829808	chr3:179574614-179754321	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv534210	chr3:179666123-179899347	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1000756	chr3:179672703-179827373	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9866193	DCUN1D1	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179726000-179754200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:179742600-179753600	Weak transcription	Pancreas	Pancrea
3	chr3:179750600-179755600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr3:179751400-179755400	Active TSS	Brain Hippocampus Middle	brain
5	chr3:179751400-179755600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:179752200-179754000	Active TSS	Brain Substantia Nigra	brain
7	chr3:179752200-179755600	Active TSS	Brain Angular Gyrus	brain
8	chr3:179753200-179755800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr3:179753400-179753600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr3:179753400-179753600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
11	chr3:179753400-179753600	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr3:179753400-179753600	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
13	chr3:179753400-179753600	Enhancers	Thymus	Thymus
14	chr3:179753400-179753600	Active TSS	GM12878-XiMat	blood
15	chr3:179753400-179753800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
16	chr3:179753400-179753800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
17	chr3:179753400-179754400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
18	chr3:179753400-179754800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr3:179753400-179755000	Active TSS	Dnd41	blood
20	chr3:179753400-179755200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr3:179753400-179755200	Active TSS	Brain Anterior Caudate	brain
22	chr3:179753400-179755400	Active TSS	H9 Cell Line	embryonic stem cell
23	chr3:179753400-179755400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr3:179753400-179755400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr3:179753400-179755600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:179753400-179755600	Bivalent/Poised TSS	Fetal Brain Female	brain

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