Variant report

Variant	rs8046061
Chromosome Location	chr16:80752293-80752294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:80740866..80745850-chr16:80746158..80752647,10	MCF-7	breast:
2	chr16:80745399..80748636-chr16:80750570..80752384,3	MCF-7	breast:
3	chr16:80559326..80561966-chr16:80751074..80753973,2	MCF-7	breast:
4	chr16:80713625..80716646-chr16:80751671..80755053,3	MCF-7	breast:
5	chr16:80653017..80657135-chr16:80751314..80754331,4	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10514506	1.00[ASW][hapmap]
rs10514509	0.96[CEU][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10871395	0.82[GIH][hapmap]
rs11150309	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11150310	0.96[CEU][hapmap];0.95[MKK][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs11641163	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs11643615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11644231	0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.87[MEX][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11646609	0.85[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap]
rs11647695	0.87[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11648014	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12444479	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12597342	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17754079	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17754097	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17826509	1.00[LWK][hapmap];0.86[AFR][1000 genomes]
rs17826881	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17826989	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2289356	1.00[CEU][hapmap];0.84[GIH][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes]
rs34405003	0.86[AFR][1000 genomes]
rs56338398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56364344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7186034	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7200532	1.00[LWK][hapmap];0.86[AFR][1000 genomes]
rs72807926	0.86[AFR][1000 genomes]
rs72807937	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8045164	0.90[ASN][1000 genomes]
rs8047401	1.00[LWK][hapmap]
rs9937518	0.90[AMR][1000 genomes];0.80[EUR][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	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1057357	chr16:80662770-80794945	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3451298	chr16:80696935-80997389	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv3350075	chr16:80696955-80997359	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv542990	chr16:80729797-80918198	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv833301	chr16:80732170-80928751	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8046061	CMIP	cis	cerebellum	SCAN
rs8046061	BC017893	cis	multi-tissue	Pritchard
rs8046061	ADAT1	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80744000-80753400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr16:80745200-80753400	Weak transcription	Primary T cells from cord blood	blood
3	chr16:80750000-80753400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr16:80750600-80753400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr16:80751000-80753000	Enhancers	Pancreas	Pancrea
6	chr16:80751400-80752400	Enhancers	Fetal Intestine Small	intestine
7	chr16:80751400-80752600	Enhancers	Fetal Intestine Large	intestine
8	chr16:80751400-80753000	Enhancers	Liver	Liver
9	chr16:80751600-80753000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr16:80751800-80752800	Enhancers	Gastric	stomach
11	chr16:80751800-80752800	Enhancers	Small Intestine	intestine
12	chr16:80751800-80753000	Enhancers	Lung	lung
13	chr16:80751800-80754600	Enhancers	Spleen	Spleen
14	chr16:80751800-80755200	Genic enhancers	Hela-S3	cervix
15	chr16:80751800-80755600	Enhancers	HUVEC	blood vessel
16	chr16:80752000-80752800	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr16:80752000-80753200	Enhancers	Duodenum Mucosa	Duodenum
18	chr16:80752200-80752600	Weak transcription	NHDF-Ad	bronchial
19	chr16:80752200-80752800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr16:80752200-80753200	Enhancers	Placenta	Placenta

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