Variant report

Variant	rs12465459
Chromosome Location	chr2:179672711-179672712
allele	C/T
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	chr2:179672691-179672741	NT2-D1	testis:	n/a
2	chr2:179672691-179672741	HNPCEpiC	eye:	n/a
3	chr2:179672691-179672741	ECC-1	luminal epithelium:	n/a
4	chr2:179672691-179672741	PrEC	prostate:	n/a
5	chr2:179672691-179672741	AG04449	skin:	fetal
6	chr2:179672691-179672741	SK-N-MC	brain:	n/a
7	chr2:179672691-179672741	PFSK-1	brain:	n/a
8	chr2:179672691-179672741	HMEC	breast:	n/a
9	chr2:179672691-179672741	HRPEpiC	eye:	n/a
10	chr2:179672691-179672741	GM06990	blood:	n/a
11	chr2:179672691-179672741	SKMC	muscle:	n/a
12	chr2:179672691-179672741	SK-N-SH	brain:	n/a
13	chr2:179672691-179672741	HUVEC	blood vessel:	n/a
14	chr2:179672691-179672741	AG09309	skin:	n/a
15	chr2:179672691-179672741	HCM	heart:	n/a
16	chr2:179672691-179672741	BJ	skin:	n/a
17	chr2:179672691-179672741	PANC-1	pancreas:	n/a
18	chr2:179672691-179672741	HAEpiC	amniotic membrane:	n/a
19	chr2:179672691-179672741	K562	blood:	n/a
20	chr2:179672691-179672741	NH-A	brain:	n/a
21	chr2:179672691-179672741	GM12878	blood:	n/a
22	chr2:179672691-179672741	GM12892	blood:	n/a
23	chr2:179672691-179672741	NB4	blood:	n/a
24	chr2:179672691-179672741	HepG2	liver:	n/a
25	chr2:179672691-179672741	RPTEC	kidney:	n/a
26	chr2:179672691-179672741	T-47D	breast:	n/a
27	chr2:179672691-179672741	LNCaP	prostate:	n/a
28	chr2:179672691-179672741	MCF-7	breast:	n/a
29	chr2:179672691-179672741	SK-N-SH_RA	brain:	n/a
30	chr2:179672691-179672741	ProgFib	skin:	n/a
31	chr2:179672691-179672741	HPAEpiC	pulmonary alveolar:	n/a
32	chr2:179672691-179672741	HRCEpiC	kidney:	n/a
33	chr2:179672691-179672741	AG10803	skin:	n/a
34	chr2:179672691-179672741	HRE	kidney:	n/a
35	chr2:179672691-179672741	HCPEpiC	choroid plexus:	n/a
36	chr2:179672691-179672741	MCF10A-Er-Src	breast:	n/a
37	chr2:179672691-179672741	AoSMC	blood vessel:	n/a
38	chr2:179672691-179672741	A549	lung:	n/a
39	chr2:179672691-179672741	Hela-S3	cervix:	n/a
40	chr2:179672691-179672741	GM19239	blood:	n/a
41	chr2:179672691-179672741	HL-60	blood:	n/a
42	chr2:179672691-179672741	HCT-116	colon:	n/a
43	chr2:179672691-179672741	ovcar-3	ovarian:	n/a
44	chr2:179672691-179672741	Caco-2	colon:	n/a
45	chr2:179672691-179672741	AG04450	lung:	fetal
46	chr2:179672691-179672741	CMK	blood:	n/a
47	chr2:179672691-179672741	HEEpiC	esophagus:	n/a
48	chr2:179672691-179672741	Jurkat	blood:	n/a
49	chr2:179672691-179672741	NHBE	bronchial:	n/a
50	chr2:179672691-179672741	HEK293	kidney:	embryo

No data

Variant related genes	Relation type
TTN	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11693372	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12464151	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs12469367	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs12471428	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12992014	0.84[ASN][1000 genomes]
rs13006510	0.97[ASN][1000 genomes]
rs1844334	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2366912	0.84[ASN][1000 genomes]
rs3769858	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6715406	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6729746	0.97[ASN][1000 genomes]
rs6733291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7561149	0.84[ASN][1000 genomes]
rs7591782	0.84[ASN][1000 genomes]
rs7592323	0.84[ASN][1000 genomes]
rs7600330	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834470	chr2:179555152-179728726	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv934108	chr2:179556852-179729925	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12465459	PDE1A	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179646000-179684800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:179656800-179674400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:179659400-179698000	Weak transcription	Primary B cells from cord blood	blood
4	chr2:179664800-179673000	Active TSS	Right Atrium	heart
5	chr2:179666800-179684800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:179667200-179673000	Active TSS	Right Ventricle	heart
7	chr2:179668400-179673000	ZNF genes & repeats	Fetal Heart	heart
8	chr2:179669600-179680800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:179669800-179673200	Active TSS	Fetal Muscle Leg	muscle
10	chr2:179669800-179674600	Weak transcription	Primary T cells from cord blood	blood
11	chr2:179670000-179672800	Active TSS	Fetal Muscle Trunk	muscle
12	chr2:179670000-179674000	Active TSS	Psoas Muscle	Psoas
13	chr2:179670000-179674000	Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr2:179671200-179674000	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr2:179671800-179673000	Active TSS	Left Ventricle	heart
16	chr2:179672200-179672800	Flanking Active TSS	HSMMtube	muscle
17	chr2:179672400-179673000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:179672400-179673000	Enhancers	HSMM	muscle
19	chr2:179672600-179676200	Weak transcription	Pancreas	Pancrea

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