Variant report

Variant	rs8191049
Chromosome Location	chr16:82068096-82068097
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:82068070-82068193	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
HSD17B2	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11150434	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs11150435	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs13337293	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16956238	1.00[EUR][1000 genomes]
rs16956244	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs16956274	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs16956406	1.00[TSI][hapmap]
rs4318193	0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs4435247	1.00[TSI][hapmap]
rs4889446	1.00[TSI][hapmap]
rs60912325	1.00[EUR][1000 genomes]
rs7195508	1.00[EUR][1000 genomes]
rs7196078	1.00[EUR][1000 genomes]
rs7200696	0.83[YRI][hapmap]
rs7200711	0.83[YRI][hapmap]
rs7205968	1.00[EUR][1000 genomes]
rs8045494	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8046533	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8048090	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs8049423	1.00[EUR][1000 genomes]
rs8049750	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8056343	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8058561	1.00[EUR][1000 genomes]
rs8060993	0.86[YRI][hapmap]
rs8062348	1.00[TSI][hapmap]
rs8063275	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs8191048	0.93[ASW][hapmap];1.00[GIH][hapmap];0.86[MKK][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8191050	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs8191072	0.82[YRI][hapmap]
rs8191080	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs8191081	1.00[EUR][1000 genomes]
rs8191089	1.00[EUR][1000 genomes]
rs8191167	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs9926028	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs9926211	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs9941115	1.00[EUR][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	nsv907012	chr16:81986896-82115148	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1058368	chr16:82029516-82152788	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8191049	CRYZ	trans	lymphoblastoid	seeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82064800-82069400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:82065000-82068200	Enhancers	NHEK	skin
3	chr16:82065000-82069400	Enhancers	HMEC	breast
4	chr16:82065600-82068400	Weak transcription	Fetal Lung	lung
5	chr16:82065800-82068200	Weak transcription	NH-A	brain
6	chr16:82065800-82068400	Weak transcription	NHLF	lung
7	chr16:82066000-82068200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:82066400-82068200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr16:82066400-82068400	Enhancers	Fetal Intestine Small	intestine
10	chr16:82066400-82069200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:82066600-82068200	Enhancers	Stomach Mucosa	stomach
12	chr16:82066800-82069400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr16:82067000-82068400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr16:82067000-82069400	Enhancers	HUVEC	blood vessel
15	chr16:82067000-82070000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:82067200-82068800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr16:82067400-82068200	Active TSS	Duodenum Mucosa	Duodenum
18	chr16:82067400-82068400	Weak transcription	Placenta	Placenta
19	chr16:82067400-82068800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr16:82067400-82068800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr16:82067400-82069000	Weak transcription	Gastric	stomach
22	chr16:82067400-82069200	Enhancers	A549	lung
23	chr16:82067400-82069600	Weak transcription	Small Intestine	intestine
24	chr16:82067400-82077000	Weak transcription	Right Atrium	heart
25	chr16:82067800-82068200	Enhancers	Brain Germinal Matrix	brain
26	chr16:82067800-82068600	Enhancers	Fetal Stomach	stomach
27	chr16:82067800-82068800	Weak transcription	Lung	lung
28	chr16:82067800-82068800	Weak transcription	Pancreas	Pancrea
29	chr16:82068000-82068200	Enhancers	Colonic Mucosa	Colon
30	chr16:82068000-82068600	Flanking Active TSS	Liver	Liver
31	chr16:82068000-82068600	Flanking Active TSS	Fetal Intestine Large	intestine
32	chr16:82068000-82068800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr16:82068000-82068800	Flanking Active TSS	HepG2	liver
34	chr16:82068000-82072800	Active TSS	Rectal Mucosa Donor 29	rectum

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