Variant report

Variant	rs9850143
Chromosome Location	chr3:120025459-120025460
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:120025420-120025470	HepG2	liver:	n/a
2	chr3:120025420-120025470	HCM	heart:	n/a
3	chr3:120025420-120025470	H1-hESC	embryonic stem cell:	embryo
4	chr3:120025420-120025470	AG10803	skin:	n/a
5	chr3:120025420-120025470	AG04450	lung:	fetal
6	chr3:120025420-120025470	HNPCEpiC	eye:	n/a
7	chr3:120025420-120025470	NB4	blood:	n/a
8	chr3:120025420-120025470	AG09309	skin:	n/a
9	chr3:120025420-120025470	ProgFib	skin:	n/a
10	chr3:120025420-120025470	BJ	skin:	n/a
11	chr3:120025420-120025470	MCF10A-Er-Src	breast:	n/a
12	chr3:120025420-120025470	A549	lung:	n/a
13	chr3:120025420-120025470	Hela-S3	cervix:	n/a
14	chr3:120025420-120025470	HL-60	blood:	n/a
15	chr3:120025420-120025470	AG04449	skin:	fetal
16	chr3:120025420-120025470	RPTEC	kidney:	n/a
17	chr3:120025420-120025470	SKMC	muscle:	n/a
18	chr3:120025420-120025470	GM19239	blood:	n/a
19	chr3:120025420-120025470	MCF-7	breast:	n/a
20	chr3:120025420-120025470	HRPEpiC	eye:	n/a
21	chr3:120025420-120025470	HCT-116	colon:	n/a
22	chr3:120025420-120025470	K562	blood:	n/a
23	chr3:120025420-120025470	HAEpiC	amniotic membrane:	n/a
24	chr3:120025420-120025470	HIPEpiC	eye:	n/a
25	chr3:120025420-120025470	HCF	heart:	n/a
26	chr3:120025420-120025470	LNCaP	prostate:	n/a
27	chr3:120025420-120025470	HRE	kidney:	n/a
28	chr3:120025420-120025470	HUVEC	blood vessel:	n/a
29	chr3:120025420-120025470	PrEC	prostate:	n/a
30	chr3:120025420-120025470	GM12892	blood:	n/a
31	chr3:120025420-120025470	NH-A	brain:	n/a
32	chr3:120025420-120025470	GM12891	blood:	n/a
33	chr3:120025420-120025470	HRCEpiC	kidney:	n/a
34	chr3:120025420-120025470	NT2-D1	testis:	n/a
35	chr3:120025420-120025470	SAEC	small airway:	n/a
36	chr3:120025420-120025470	ovcar-3	ovarian:	n/a
37	chr3:120025420-120025470	PANC-1	pancreas:	n/a
38	chr3:120025420-120025470	NHBE	bronchial:	n/a
39	chr3:120025420-120025470	GM12878	blood:	n/a
40	chr3:120025420-120025470	HEEpiC	esophagus:	n/a
41	chr3:120025420-120025470	HMEC	breast:	n/a
42	chr3:120025420-120025470	Jurkat	blood:	n/a
43	chr3:120025420-120025470	AG09319	gingival:	n/a
44	chr3:120025420-120025470	HCPEpiC	choroid plexus:	n/a
45	chr3:120025420-120025470	IMR90	lung:	fetal
46	chr3:120025420-120025470	PFSK-1	brain:	n/a
47	chr3:120025420-120025470	SK-N-MC	brain:	n/a
48	chr3:120025420-120025470	SK-N-SH	brain:	n/a
49	chr3:120025420-120025470	AoSMC	blood vessel:	n/a
50	chr3:120025420-120025470	SK-N-SH_RA	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:120025111..120027109-chr3:120067982..120069603,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000240882	CpG island
ENSG00000240661	Chromatin interaction
ENSG00000163428	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57184379	1.00[AMR][1000 genomes]
rs9829772	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9836095	0.83[AFR][1000 genomes]
rs9846512	1.00[AMR][1000 genomes]
rs9847841	0.83[AFR][1000 genomes]
rs9860337	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv877376	chr3:119824037-120119446	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv829698	chr3:119960869-120129126	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats 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 miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120021200-120025600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:120021400-120025800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:120021400-120026000	Weak transcription	Aorta	Aorta
4	chr3:120022800-120028600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:120023600-120025800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:120024400-120029400	Weak transcription	NHEK	skin
7	chr3:120024400-120032600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:120024400-120049200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:120024600-120032600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:120025400-120040600	Weak transcription	Fetal Lung	lung

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