Variant report

Variant	rs73883894
Chromosome Location	chr3:180308481-180308482
allele	C/T
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:2)
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	POLR2A	chr3:180308314-180308550	Gliobla	brain:	n/a	n/a
2	POLR2A	chr3:180308307-180308507	MCF-7	breast:	n/a	n/a
3	POLR2A	chr3:180308309-180308505	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:180308459-180308509	ECC-1	luminal epithelium:	n/a
2	chr3:180308459-180308509	ovcar-3	ovarian:	n/a
3	chr3:180308459-180308509	HCPEpiC	choroid plexus:	n/a
4	chr3:180308459-180308509	AG04450	lung:	fetal
5	chr3:180308459-180308509	AG04449	skin:	fetal
6	chr3:180308459-180308509	HCM	heart:	n/a
7	chr3:180308459-180308509	SK-N-SH_RA	brain:	n/a
8	chr3:180308459-180308509	HL-60	blood:	n/a
9	chr3:180308459-180308509	Hepatocyte	liver:	n/a
10	chr3:180308459-180308509	U87	brain:	n/a
11	chr3:180308459-180308509	HPAEpiC	pulmonary alveolar:	n/a
12	chr3:180308459-180308509	NHBE	bronchial:	n/a
13	chr3:180308459-180308509	PFSK-1	brain:	n/a
14	chr3:180308459-180308509	H1-hESC	embryonic stem cell:	embryo
15	chr3:180308459-180308509	GM12892	blood:	n/a
16	chr3:180308459-180308509	HCT-116	colon:	n/a
17	chr3:180308459-180308509	PANC-1	pancreas:	n/a
18	chr3:180308459-180308509	BE2_C	brain:	n/a
19	chr3:180308459-180308509	AG09309	skin:	n/a
20	chr3:180308459-180308509	HRCEpiC	kidney:	n/a
21	chr3:180308459-180308509	GM06990	blood:	n/a
22	chr3:180308459-180308509	ProgFib	skin:	n/a
23	chr3:180308459-180308509	Jurkat	blood:	n/a
24	chr3:180308459-180308509	NHDF-neo	bronchial:	n/a
25	chr3:180308459-180308509	HRPEpiC	eye:	n/a
26	chr3:180308459-180308509	LNCaP	prostate:	n/a
27	chr3:180308459-180308509	Caco-2	colon:	n/a
28	chr3:180308459-180308509	GM12878	blood:	n/a
29	chr3:180308459-180308509	MCF10A-Er-Src	breast:	n/a
30	chr3:180308459-180308509	NT2-D1	testis:	n/a
31	chr3:180308459-180308509	HAEpiC	amniotic membrane:	n/a
32	chr3:180308459-180308509	HEEpiC	esophagus:	n/a
33	chr3:180308459-180308509	A549	lung:	n/a
34	chr3:180308459-180308509	Hela-S3	cervix:	n/a
35	chr3:180308459-180308509	AG10803	skin:	n/a
36	chr3:180308459-180308509	HUVEC	blood vessel:	n/a
37	chr3:180308459-180308509	T-47D	breast:	n/a
38	chr3:180308459-180308509	PrEC	prostate:	n/a
39	chr3:180308459-180308509	NB4	blood:	n/a
40	chr3:180308459-180308509	SK-N-SH	brain:	n/a
41	chr3:180308459-180308509	HIPEpiC	eye:	n/a
42	chr3:180308459-180308509	HRE	kidney:	n/a
43	chr3:180308459-180308509	GM12891	blood:	n/a
44	chr3:180308459-180308509	RPTEC	kidney:	n/a
45	chr3:180308459-180308509	SKMC	muscle:	n/a
46	chr3:180308459-180308509	HNPCEpiC	eye:	n/a
47	chr3:180308459-180308509	NH-A	brain:	n/a
48	chr3:180308459-180308509	HCF	heart:	n/a
49	chr3:180308459-180308509	BJ	skin:	n/a
50	chr3:180308459-180308509	SK-N-MC	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:180306061..180309253-chr3:180317592..180321304,5	K562	blood:
2	chr3:180306061..180309935-chr3:180317772..180319906,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000241946	TF binding region
ENSG00000241946	CpG island
ENSG00000163728	Chromatin interaction
ENSG00000239774	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1062	1.00[AFR][1000 genomes]
rs55677114	0.81[AFR][1000 genomes]
rs55978065	1.00[AFR][1000 genomes]
rs58569916	1.00[AFR][1000 genomes]
rs58702111	1.00[AFR][1000 genomes]
rs59098940	1.00[AFR][1000 genomes]
rs60739499	0.81[AFR][1000 genomes]
rs61152417	1.00[AFR][1000 genomes]
rs61665243	1.00[AFR][1000 genomes]
rs61680334	1.00[AFR][1000 genomes]
rs73883866	0.81[AFR][1000 genomes]
rs73883867	0.81[AFR][1000 genomes]
rs73883870	0.81[AFR][1000 genomes]
rs73883871	0.81[AFR][1000 genomes]
rs73883874	0.81[AFR][1000 genomes]
rs73883876	1.00[AFR][1000 genomes]
rs73883877	1.00[AFR][1000 genomes]
rs73883880	1.00[AFR][1000 genomes]
rs73883883	1.00[AFR][1000 genomes]
rs73883884	1.00[AFR][1000 genomes]
rs73883889	1.00[AFR][1000 genomes]
rs73883890	1.00[AFR][1000 genomes]
rs73883892	1.00[AFR][1000 genomes]
rs73883895	1.00[AFR][1000 genomes]
rs73883896	1.00[AFR][1000 genomes]
rs73883897	1.00[AFR][1000 genomes]
rs73883898	1.00[AFR][1000 genomes]
rs73883899	1.00[AFR][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	nsv1007831	chr3:180162003-180348203	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536818	chr3:180162003-180348203	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3359190	chr3:180298396-180397223	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:180297200-180312200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:180298000-180309800	Weak transcription	Brain Anterior Caudate	brain
3	chr3:180307600-180310400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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