Variant report

Variant	rs72666132
Chromosome Location	chr1:58325014-58325015
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	chr1:58324995-58325045	HMEC	breast:	n/a
2	chr1:58324995-58325045	HL-60	blood:	n/a
3	chr1:58324995-58325045	SK-N-SH_RA	brain:	n/a
4	chr1:58324995-58325045	ovcar-3	ovarian:	n/a
5	chr1:58324995-58325045	A549	lung:	n/a
6	chr1:58324995-58325045	HAEpiC	amniotic membrane:	n/a
7	chr1:58324995-58325045	SKMC	muscle:	n/a
8	chr1:58324995-58325045	HEEpiC	esophagus:	n/a
9	chr1:58324995-58325045	ECC-1	luminal epithelium:	n/a
10	chr1:58324995-58325045	H1-hESC	embryonic stem cell:	embryo
11	chr1:58324995-58325045	SK-N-MC	brain:	n/a
12	chr1:58324995-58325045	GM12891	blood:	n/a
13	chr1:58324995-58325045	HRCEpiC	kidney:	n/a
14	chr1:58324995-58325045	HCPEpiC	choroid plexus:	n/a
15	chr1:58324995-58325045	SK-N-SH	brain:	n/a
16	chr1:58324995-58325045	HEK293	kidney:	embryo
17	chr1:58324995-58325045	HNPCEpiC	eye:	n/a
18	chr1:58324995-58325045	HepG2	liver:	n/a
19	chr1:58324995-58325045	PANC-1	pancreas:	n/a
20	chr1:58324995-58325045	Hela-S3	cervix:	n/a
21	chr1:58324995-58325045	AoSMC	blood vessel:	n/a
22	chr1:58324995-58325045	GM12878	blood:	n/a
23	chr1:58324995-58325045	K562	blood:	n/a
24	chr1:58324995-58325045	AG04449	skin:	fetal
25	chr1:58324995-58325045	LNCaP	prostate:	n/a
26	chr1:58324995-58325045	IMR90	lung:	fetal
27	chr1:58324995-58325045	AG09319	gingival:	n/a
28	chr1:58324995-58325045	NB4	blood:	n/a
29	chr1:58324995-58325045	Hepatocyte	liver:	n/a
30	chr1:58324995-58325045	Caco-2	colon:	n/a
31	chr1:58324995-58325045	HIPEpiC	eye:	n/a
32	chr1:58324995-58325045	GM06990	blood:	n/a
33	chr1:58324995-58325045	SAEC	small airway:	n/a
34	chr1:58324995-58325045	HPAEpiC	pulmonary alveolar:	n/a
35	chr1:58324995-58325045	ProgFib	skin:	n/a
36	chr1:58324995-58325045	PFSK-1	brain:	n/a
37	chr1:58324995-58325045	GM12892	blood:	n/a
38	chr1:58324995-58325045	NT2-D1	testis:	n/a
39	chr1:58324995-58325045	HUVEC	blood vessel:	n/a
40	chr1:58324995-58325045	HCT-116	colon:	n/a
41	chr1:58324995-58325045	Jurkat	blood:	n/a
42	chr1:58324995-58325045	AG10803	skin:	n/a
43	chr1:58324995-58325045	HRE	kidney:	n/a
44	chr1:58324995-58325045	AG09309	skin:	n/a
45	chr1:58324995-58325045	PrEC	prostate:	n/a
46	chr1:58324995-58325045	CMK	blood:	n/a
47	chr1:58324995-58325045	HRPEpiC	eye:	n/a
48	chr1:58324995-58325045	NHBE	bronchial:	n/a
49	chr1:58324995-58325045	HCF	heart:	n/a
50	chr1:58324995-58325045	T-47D	breast:	n/a

No data

Variant related genes	Relation type
DAB1-AS1	CpG island

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1408137	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17519798	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1886137	0.86[AMR][1000 genomes]
rs1886138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4912174	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4912284	0.86[AMR][1000 genomes]
rs4997596	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55733745	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55757801	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56016455	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56171994	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs68051884	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs723714	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72664689	0.81[AMR][1000 genomes]
rs72666110	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72666111	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72666112	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72666114	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72666115	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666118	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72666122	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666127	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72666129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666134	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72666135	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72666137	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72666141	0.85[AMR][1000 genomes];0.82[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:15 , 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	chr1:58322600-58325400	Enhancers	NHEK	skin
9	chr1:58322600-58327000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:58324000-58325400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:58324600-58326000	Weak transcription	Placenta	Placenta
12	chr1:58324600-58326200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:58324600-58326600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:58324800-58325600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:58325000-58325400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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