Variant report

Variant	rs7133033
Chromosome Location	chr12:41581492-41581493
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:0)
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	chr12:41581484-41581534	Hepatocyte	liver:	n/a
2	chr12:41581484-41581534	SK-N-SH_RA	brain:	n/a
3	chr12:41581484-41581534	HRPEpiC	eye:	n/a
4	chr12:41581484-41581534	AG04450	lung:	fetal
5	chr12:41581484-41581534	T-47D	breast:	n/a
6	chr12:41581484-41581534	SK-N-SH	brain:	n/a
7	chr12:41581484-41581534	BJ	skin:	n/a
8	chr12:41581484-41581534	GM06990	blood:	n/a
9	chr12:41581484-41581534	AoSMC	blood vessel:	n/a
10	chr12:41581484-41581534	HCT-116	colon:	n/a
11	chr12:41581484-41581534	HCM	heart:	n/a
12	chr12:41581484-41581534	SKMC	muscle:	n/a
13	chr12:41581484-41581534	Hela-S3	cervix:	n/a
14	chr12:41581484-41581534	CMK	blood:	n/a
15	chr12:41581484-41581534	SAEC	small airway:	n/a
16	chr12:41581484-41581534	Jurkat	blood:	n/a
17	chr12:41581484-41581534	ovcar-3	ovarian:	n/a
18	chr12:41581484-41581534	HL-60	blood:	n/a
19	chr12:41581484-41581534	AG09319	gingival:	n/a
20	chr12:41581484-41581534	HEEpiC	esophagus:	n/a
21	chr12:41581484-41581534	ProgFib	skin:	n/a
22	chr12:41581484-41581534	MCF-7	breast:	n/a
23	chr12:41581484-41581534	HUVEC	blood vessel:	n/a
24	chr12:41581484-41581534	AG09309	skin:	n/a
25	chr12:41581484-41581534	GM12892	blood:	n/a
26	chr12:41581484-41581534	LNCaP	prostate:	n/a
27	chr12:41581484-41581534	HepG2	liver:	n/a
28	chr12:41581484-41581534	NB4	blood:	n/a
29	chr12:41581484-41581534	K562	blood:	n/a
30	chr12:41581484-41581534	HRCEpiC	kidney:	n/a
31	chr12:41581484-41581534	RPTEC	kidney:	n/a
32	chr12:41581484-41581534	PFSK-1	brain:	n/a
33	chr12:41581484-41581534	HIPEpiC	eye:	n/a
34	chr12:41581484-41581534	HMEC	breast:	n/a
35	chr12:41581484-41581534	U87	brain:	n/a
36	chr12:41581484-41581534	PANC-1	pancreas:	n/a
37	chr12:41581484-41581534	NHDF-neo	bronchial:	n/a
38	chr12:41581484-41581534	BE2_C	brain:	n/a
39	chr12:41581484-41581534	NT2-D1	testis:	n/a
40	chr12:41581484-41581534	HAEpiC	amniotic membrane:	n/a
41	chr12:41581484-41581534	HCF	heart:	n/a
42	chr12:41581484-41581534	HCPEpiC	choroid plexus:	n/a
43	chr12:41581484-41581534	PrEC	prostate:	n/a
44	chr12:41581484-41581534	AG10803	skin:	n/a
45	chr12:41581484-41581534	NHBE	bronchial:	n/a
46	chr12:41581484-41581534	HEK293	kidney:	embryo
47	chr12:41581484-41581534	AG04449	skin:	fetal
48	chr12:41581484-41581534	GM12891	blood:	n/a
49	chr12:41581484-41581534	H1-hESC	embryonic stem cell:	embryo
50	chr12:41581484-41581534	MCF10A-Er-Src	breast:	n/a

No data

Variant related genes	Relation type
PDZRN4	CpG island

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs59282158	1.00[AMR][1000 genomes]
rs61082650	1.00[AMR][1000 genomes]
rs7135065	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7138793	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7300489	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7311228	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73117002	1.00[AMR][1000 genomes]
rs7311804	1.00[AMR][1000 genomes]
rs73121257	1.00[AMR][1000 genomes]
rs73121259	1.00[AMR][1000 genomes]
rs73126936	1.00[AMR][1000 genomes]
rs73126945	1.00[AMR][1000 genomes]
rs73126951	1.00[AMR][1000 genomes]
rs73126962	1.00[AMR][1000 genomes]
rs7313189	1.00[AMR][1000 genomes]
rs7316474	1.00[AMR][1000 genomes]
rs7959370	1.00[AMR][1000 genomes]
rs7959494	1.00[AMR][1000 genomes]
rs7968062	1.00[AMR][1000 genomes]
rs7972252	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1051524	chr12:41409977-41643387	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1048124	chr12:41499221-41585315	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
5	nsv899034	chr12:41515090-41698342	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv899035	chr12:41548545-41710912	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41579800-41582000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:41581200-41585200	Active TSS	Stomach Smooth Muscle	stomach
3	chr12:41581400-41581600	Enhancers	Ovary	ovary
4	chr12:41581400-41581600	Flanking Active TSS	Rectal Smooth Muscle	rectum
5	chr12:41581400-41581800	Flanking Active TSS	Colon Smooth Muscle	Colon
6	chr12:41581400-41582000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:41581400-41584400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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