Variant report

Variant	rs12145896
Chromosome Location	chr1:58325494-58325495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:58325480-58325630	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:58325449-58325499	T-47D	breast:	n/a
2	chr1:58325449-58325499	Jurkat	blood:	n/a
3	chr1:58325449-58325499	MCF10A-Er-Src	breast:	n/a
4	chr1:58325449-58325499	HCF	heart:	n/a
5	chr1:58325449-58325499	PANC-1	pancreas:	n/a
6	chr1:58325449-58325499	GM12892	blood:	n/a
7	chr1:58325449-58325499	HNPCEpiC	eye:	n/a
8	chr1:58325449-58325499	HUVEC	blood vessel:	n/a
9	chr1:58325449-58325499	H1-hESC	embryonic stem cell:	embryo
10	chr1:58325449-58325499	HL-60	blood:	n/a
11	chr1:58325449-58325499	AG04449	skin:	fetal
12	chr1:58325449-58325499	MCF-7	breast:	n/a
13	chr1:58325449-58325499	A549	lung:	n/a
14	chr1:58325449-58325499	CMK	blood:	n/a
15	chr1:58325449-58325499	HRE	kidney:	n/a
16	chr1:58325449-58325499	HepG2	liver:	n/a
17	chr1:58325449-58325499	AG09309	skin:	n/a
18	chr1:58325449-58325499	HCPEpiC	choroid plexus:	n/a
19	chr1:58325449-58325499	GM12891	blood:	n/a
20	chr1:58325449-58325499	HRPEpiC	eye:	n/a
21	chr1:58325449-58325499	HIPEpiC	eye:	n/a
22	chr1:58325449-58325499	LNCaP	prostate:	n/a
23	chr1:58325449-58325499	BE2_C	brain:	n/a
24	chr1:58325449-58325499	NT2-D1	testis:	n/a
25	chr1:58325449-58325499	Caco-2	colon:	n/a
26	chr1:58325449-58325499	IMR90	lung:	fetal
27	chr1:58325449-58325499	AG09319	gingival:	n/a
28	chr1:58325449-58325499	Hela-S3	cervix:	n/a
29	chr1:58325449-58325499	Hepatocyte	liver:	n/a
30	chr1:58325449-58325499	NHBE	bronchial:	n/a
31	chr1:58325449-58325499	ProgFib	skin:	n/a
32	chr1:58325449-58325499	BJ	skin:	n/a
33	chr1:58325449-58325499	HEK293	kidney:	embryo
34	chr1:58325449-58325499	K562	blood:	n/a
35	chr1:58325449-58325499	ovcar-3	ovarian:	n/a
36	chr1:58325449-58325499	AG04450	lung:	fetal
37	chr1:58325449-58325499	NH-A	brain:	n/a
38	chr1:58325449-58325499	SK-N-SH_RA	brain:	n/a
39	chr1:58325449-58325499	PrEC	prostate:	n/a
40	chr1:58325449-58325499	SK-N-SH	brain:	n/a
41	chr1:58325449-58325499	AG10803	skin:	n/a
42	chr1:58325449-58325499	RPTEC	kidney:	n/a
43	chr1:58325449-58325499	HMEC	breast:	n/a
44	chr1:58325449-58325499	HEEpiC	esophagus:	n/a
45	chr1:58325449-58325499	GM19239	blood:	n/a
46	chr1:58325449-58325499	HCT-116	colon:	n/a
47	chr1:58325449-58325499	SKMC	muscle:	n/a
48	chr1:58325449-58325499	AoSMC	blood vessel:	n/a
49	chr1:58325449-58325499	HAEpiC	amniotic membrane:	n/a
50	chr1:58325449-58325499	HRCEpiC	kidney:	n/a

No data

Variant related genes	Relation type
DAB1-AS1	TF binding region
DAB1-AS1	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12131081	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12133109	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12134027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12134674	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12138384	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12139686	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12141749	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2224215	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2275850	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2897383	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2897397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57061666	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57848261	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58574441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015057	chr1:57976993-58793962	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv530017	chr1:58002290-58669736	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv431379	chr1:58224212-58802608	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv829937	chr1:58258288-58406506	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58320400-58325800	Weak transcription	Fetal Brain Female	brain
2	chr1:58320800-58330400	Weak transcription	Fetal Brain Male	brain
3	chr1:58321000-58325600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:58321000-58325800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:58321000-58326000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:58321200-58325800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:58322400-58327000	Enhancers	HMEC	breast
8	chr1:58322600-58327000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:58324600-58326000	Weak transcription	Placenta	Placenta
10	chr1:58324600-58326200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:58324600-58326600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:58324800-58325600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:58325400-58325800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:58325400-58326400	Weak transcription	NHEK	skin

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