Variant report

Variant	rs8191047
Chromosome Location	chr16:82067446-82067447
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr16:82067273-82067697	HUVEC	blood vessel:	n/a	chr16:82067484-82067495
2	SPI1	chr16:82067241-82067657	HL-60	blood:	n/a	chr16:82067446-82067459 chr16:82067364-82067377 chr16:82067445-82067458 chr16:82067447-82067456 chr16:82067448-82067455
3	MAX	chr16:82067199-82067576	NB4	blood:	n/a	chr16:82067394-82067405 chr16:82067395-82067404 chr16:82067397-82067404

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:82067445-82067495	HCF	heart:	n/a
2	chr16:82067445-82067495	K562	blood:	n/a
3	chr16:82067445-82067495	ProgFib	skin:	n/a
4	chr16:82067445-82067495	MCF10A-Er-Src	breast:	n/a
5	chr16:82067445-82067495	H1-hESC	embryonic stem cell:	embryo
6	chr16:82067445-82067495	NB4	blood:	n/a
7	chr16:82067445-82067495	HUVEC	blood vessel:	n/a
8	chr16:82067445-82067495	AG09319	gingival:	n/a
9	chr16:82067445-82067495	Jurkat	blood:	n/a
10	chr16:82067445-82067495	HRPEpiC	eye:	n/a
11	chr16:82067445-82067495	HCM	heart:	n/a
12	chr16:82067445-82067495	U87	brain:	n/a
13	chr16:82067445-82067495	PrEC	prostate:	n/a
14	chr16:82067445-82067495	A549	lung:	n/a
15	chr16:82067445-82067495	SK-N-SH_RA	brain:	n/a
16	chr16:82067445-82067495	AG09309	skin:	n/a
17	chr16:82067445-82067495	HPAEpiC	pulmonary alveolar:	n/a
18	chr16:82067445-82067495	ovcar-3	ovarian:	n/a
19	chr16:82067445-82067495	GM19239	blood:	n/a
20	chr16:82067445-82067495	NHDF-neo	bronchial:	n/a
21	chr16:82067445-82067495	AG10803	skin:	n/a
22	chr16:82067445-82067495	Caco-2	colon:	n/a
23	chr16:82067445-82067495	HCPEpiC	choroid plexus:	n/a
24	chr16:82067445-82067495	T-47D	breast:	n/a
25	chr16:82067445-82067495	BE2_C	brain:	n/a
26	chr16:82067445-82067495	RPTEC	kidney:	n/a
27	chr16:82067445-82067495	HAEpiC	amniotic membrane:	n/a
28	chr16:82067445-82067495	MCF-7	breast:	n/a
29	chr16:82067445-82067495	BJ	skin:	n/a
30	chr16:82067445-82067495	NT2-D1	testis:	n/a
31	chr16:82067445-82067495	HL-60	blood:	n/a
32	chr16:82067445-82067495	HepG2	liver:	n/a
33	chr16:82067445-82067495	GM12891	blood:	n/a
34	chr16:82067445-82067495	CMK	blood:	n/a
35	chr16:82067445-82067495	HIPEpiC	eye:	n/a
36	chr16:82067445-82067495	AoSMC	blood vessel:	n/a
37	chr16:82067445-82067495	Hepatocyte	liver:	n/a
38	chr16:82067445-82067495	IMR90	lung:	fetal
39	chr16:82067445-82067495	LNCaP	prostate:	n/a
40	chr16:82067445-82067495	ECC-1	luminal epithelium:	n/a
41	chr16:82067445-82067495	GM12892	blood:	n/a
42	chr16:82067445-82067495	PFSK-1	brain:	n/a
43	chr16:82067445-82067495	GM06990	blood:	n/a
44	chr16:82067445-82067495	HRCEpiC	kidney:	n/a
45	chr16:82067445-82067495	HMEC	breast:	n/a
46	chr16:82067445-82067495	SAEC	small airway:	n/a
47	chr16:82067445-82067495	NHBE	bronchial:	n/a
48	chr16:82067445-82067495	SKMC	muscle:	n/a
49	chr16:82067445-82067495	NH-A	brain:	n/a
50	chr16:82067445-82067495	Hela-S3	cervix:	n/a

No data

Variant related genes	Relation type
HSD17B2	TF binding region
HSD17B2	CpG island

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16956020	1.00[JPT][hapmap]
rs4133125	1.00[JPT][hapmap]
rs4414487	1.00[JPT][hapmap]
rs4889425	1.00[JPT][hapmap]
rs4889427	1.00[JPT][hapmap]
rs4889428	1.00[JPT][hapmap]

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:32 , 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	chr16:82065200-82068000	Enhancers	Liver	Liver
5	chr16:82065600-82068400	Weak transcription	Fetal Lung	lung
6	chr16:82065800-82068000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr16:82065800-82068200	Weak transcription	NH-A	brain
8	chr16:82065800-82068400	Weak transcription	NHLF	lung
9	chr16:82066000-82068200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr16:82066400-82068000	Enhancers	Fetal Intestine Large	intestine
11	chr16:82066400-82068200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr16:82066400-82068400	Enhancers	Fetal Intestine Small	intestine
13	chr16:82066400-82069200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:82066600-82067800	Enhancers	Pancreas	Pancrea
15	chr16:82066600-82068000	Enhancers	HepG2	liver
16	chr16:82066600-82068200	Enhancers	Stomach Mucosa	stomach
17	chr16:82066800-82067600	Enhancers	Colonic Mucosa	Colon
18	chr16:82066800-82067800	Enhancers	Lung	lung
19	chr16:82066800-82069400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr16:82067000-82068400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr16:82067000-82069400	Enhancers	HUVEC	blood vessel
22	chr16:82067000-82070000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr16:82067200-82067600	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr16:82067200-82068800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr16:82067400-82068200	Active TSS	Duodenum Mucosa	Duodenum
26	chr16:82067400-82068400	Weak transcription	Placenta	Placenta
27	chr16:82067400-82068800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr16:82067400-82068800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr16:82067400-82069000	Weak transcription	Gastric	stomach
30	chr16:82067400-82069200	Enhancers	A549	lung
31	chr16:82067400-82069600	Weak transcription	Small Intestine	intestine
32	chr16:82067400-82077000	Weak transcription	Right Atrium	heart

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