Variant report

Variant	rs8191050
Chromosome Location	chr16:82068507-82068508
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	FOS	chr16:82068419-82068888	HUVEC	blood vessel:	n/a	chr16:82068585-82068596 chr16:82068692-82068702
2	EP300	chr16:82068421-82069028	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:82068380-82069032	HepG2	liver:	n/a	n/a
4	JUND	chr16:82068469-82068917	HepG2	liver:	n/a	chr16:82068585-82068596 chr16:82068692-82068702
5	FOSL2	chr16:82068396-82069175	HepG2	liver:	n/a	chr16:82068585-82068596 chr16:82068692-82068703 chr16:82068692-82068702
6	FOXA1	chr16:82068487-82069070	HepG2	liver:	n/a	n/a
7	TEAD4	chr16:82068449-82069054	HepG2	liver:	n/a	n/a
8	POLR2A	chr16:82068459-82069169	HepG2	liver:	n/a	n/a
9	POLR2A	chr16:82068455-82069326	HepG2	liver:	n/a	n/a
10	FOS	chr16:82068489-82068889	MCF10A-Er-Src	breast:	n/a	chr16:82068585-82068596 chr16:82068692-82068702
11	SP1	chr16:82068409-82069027	HepG2	liver:	n/a	chr16:82068781-82068793 chr16:82068899-82068906 chr16:82068782-82068791 chr16:82068788-82068797
12	MYBL2	chr16:82068428-82069012	HepG2	liver:	n/a	n/a
13	NFIC	chr16:82068327-82068987	HepG2	liver:	n/a	n/a
14	HEY1	chr16:82068415-82069191	HepG2	liver:	n/a	n/a
15	TCF12	chr16:82068337-82068905	SK-N-SH	brain:	n/a	n/a
16	SIN3AK20	chr16:82068495-82069050	HepG2	liver:	n/a	n/a
17	FOSL2	chr16:82068435-82069012	HepG2	liver:	n/a	chr16:82068585-82068596 chr16:82068692-82068703 chr16:82068692-82068702
18	FOXA1	chr16:82068439-82069162	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
HSD17B2	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs13330804	1.00[EUR][1000 genomes]
rs13337293	1.00[GIH][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap]
rs16956244	1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap]
rs16956274	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16956406	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4395069	1.00[EUR][1000 genomes]
rs4435247	1.00[TSI][hapmap]
rs4485363	1.00[EUR][1000 genomes]
rs4520828	1.00[EUR][1000 genomes]
rs4889446	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs61239952	1.00[EUR][1000 genomes]
rs61398036	1.00[EUR][1000 genomes]
rs61654022	1.00[EUR][1000 genomes]
rs7190253	1.00[EUR][1000 genomes]
rs7192075	1.00[EUR][1000 genomes]
rs7203384	1.00[EUR][1000 genomes]
rs72547419	1.00[EUR][1000 genomes]
rs73598737	1.00[EUR][1000 genomes]
rs74029313	1.00[EUR][1000 genomes]
rs8045403	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045494	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs8046533	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs8048090	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs8049750	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs8052451	1.00[EUR][1000 genomes]
rs8054931	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8055539	0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8059606	1.00[EUR][1000 genomes]
rs8062348	1.00[TSI][hapmap]
rs8063275	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs8191048	1.00[GIH][hapmap]
rs8191049	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
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];1.00[AMR][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

No data

Chromatin state (count:39 , 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	chr16:82065000-82069400	Enhancers	HMEC	breast
3	chr16:82066400-82069200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:82066800-82069400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr16:82067000-82069400	Enhancers	HUVEC	blood vessel
6	chr16:82067000-82070000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:82067200-82068800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr16:82067400-82068800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr16:82067400-82068800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr16:82067400-82069000	Weak transcription	Gastric	stomach
11	chr16:82067400-82069200	Enhancers	A549	lung
12	chr16:82067400-82069600	Weak transcription	Small Intestine	intestine
13	chr16:82067400-82077000	Weak transcription	Right Atrium	heart
14	chr16:82067800-82068600	Enhancers	Fetal Stomach	stomach
15	chr16:82067800-82068800	Weak transcription	Lung	lung
16	chr16:82067800-82068800	Weak transcription	Pancreas	Pancrea
17	chr16:82068000-82068600	Flanking Active TSS	Liver	Liver
18	chr16:82068000-82068600	Flanking Active TSS	Fetal Intestine Large	intestine
19	chr16:82068000-82068800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr16:82068000-82068800	Flanking Active TSS	HepG2	liver
21	chr16:82068000-82072800	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr16:82068200-82068600	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr16:82068200-82068600	Enhancers	Fetal Kidney	kidney
24	chr16:82068200-82068600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr16:82068200-82068800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr16:82068200-82068800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr16:82068200-82069000	Enhancers	NH-A	brain
28	chr16:82068200-82069000	Flanking Active TSS	NHEK	skin
29	chr16:82068200-82069200	Enhancers	Placenta Amnion	Placenta Amnion
30	chr16:82068200-82069200	Enhancers	HSMMtube	muscle
31	chr16:82068200-82071600	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr16:82068400-82068600	Flanking Active TSS	Fetal Intestine Small	intestine
33	chr16:82068400-82068600	Enhancers	Placenta	Placenta
34	chr16:82068400-82068600	Enhancers	Stomach Mucosa	stomach
35	chr16:82068400-82068800	Enhancers	NHLF	lung
36	chr16:82068400-82069200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr16:82068400-82069200	Enhancers	Fetal Lung	lung
38	chr16:82068400-82069400	Enhancers	HSMM	muscle
39	chr16:82068400-82070200	Active TSS	Colonic Mucosa	Colon

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