Variant report

Variant	rs415380
Chromosome Location	chr12:45308074-45308075
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	chr12:45308058-45308108	AG04449	skin:	fetal
2	chr12:45308058-45308108	BJ	skin:	n/a
3	chr12:45308058-45308108	SK-N-SH	brain:	n/a
4	chr12:45308058-45308108	SAEC	small airway:	n/a
5	chr12:45308058-45308108	MCF10A-Er-Src	breast:	n/a
6	chr12:45308058-45308108	HNPCEpiC	eye:	n/a
7	chr12:45308058-45308108	SK-N-MC	brain:	n/a
8	chr12:45308058-45308108	Jurkat	blood:	n/a
9	chr12:45308058-45308108	HL-60	blood:	n/a
10	chr12:45308058-45308108	HCT-116	colon:	n/a
11	chr12:45308058-45308108	GM06990	blood:	n/a
12	chr12:45308058-45308108	HIPEpiC	eye:	n/a
13	chr12:45308058-45308108	NHBE	bronchial:	n/a
14	chr12:45308058-45308108	U87	brain:	n/a
15	chr12:45308058-45308108	PANC-1	pancreas:	n/a
16	chr12:45308058-45308108	RPTEC	kidney:	n/a
17	chr12:45308058-45308108	GM12878	blood:	n/a
18	chr12:45308058-45308108	HEK293	kidney:	embryo
19	chr12:45308058-45308108	T-47D	breast:	n/a
20	chr12:45308058-45308108	PFSK-1	brain:	n/a
21	chr12:45308058-45308108	GM12892	blood:	n/a
22	chr12:45308058-45308108	NT2-D1	testis:	n/a
23	chr12:45308058-45308108	HUVEC	blood vessel:	n/a
24	chr12:45308058-45308108	BE2_C	brain:	n/a
25	chr12:45308058-45308108	HPAEpiC	pulmonary alveolar:	n/a
26	chr12:45308058-45308108	IMR90	lung:	fetal
27	chr12:45308058-45308108	GM12891	blood:	n/a
28	chr12:45308058-45308108	ovcar-3	ovarian:	n/a
29	chr12:45308058-45308108	HCF	heart:	n/a
30	chr12:45308058-45308108	HEEpiC	esophagus:	n/a
31	chr12:45308058-45308108	AG04450	lung:	fetal
32	chr12:45308058-45308108	ECC-1	luminal epithelium:	n/a
33	chr12:45308058-45308108	NH-A	brain:	n/a
34	chr12:45308058-45308108	HepG2	liver:	n/a
35	chr12:45308058-45308108	MCF-7	breast:	n/a
36	chr12:45308058-45308108	HRPEpiC	eye:	n/a
37	chr12:45308058-45308108	SK-N-SH_RA	brain:	n/a
38	chr12:45308058-45308108	SKMC	muscle:	n/a
39	chr12:45308058-45308108	HMEC	breast:	n/a
40	chr12:45308058-45308108	K562	blood:	n/a
41	chr12:45308058-45308108	HCM	heart:	n/a
42	chr12:45308058-45308108	ProgFib	skin:	n/a
43	chr12:45308058-45308108	HRCEpiC	kidney:	n/a
44	chr12:45308058-45308108	NB4	blood:	n/a
45	chr12:45308058-45308108	Hepatocyte	liver:	n/a
46	chr12:45308058-45308108	A549	lung:	n/a
47	chr12:45308058-45308108	AG10803	skin:	n/a
48	chr12:45308058-45308108	CMK	blood:	n/a
49	chr12:45308058-45308108	HAEpiC	amniotic membrane:	n/a
50	chr12:45308058-45308108	AoSMC	blood vessel:	n/a

No data

Variant related genes	Relation type
NELL2	CpG island

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1349354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1450557	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1450558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs268038	0.88[AFR][1000 genomes]
rs268040	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372281	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs421642	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs444468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56107139	1.00[EUR][1000 genomes]
rs59173350	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59476102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59796533	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7295338	1.00[EUR][1000 genomes]
rs73279107	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73279120	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73279132	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73279138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73279180	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73279189	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74080462	1.00[EUR][1000 genomes]
rs74080477	1.00[EUR][1000 genomes]
rs74080481	1.00[EUR][1000 genomes]
rs7955554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][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	nsv899049	chr12:45299202-45376053	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv899050	chr12:45299202-45400614	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv899051	chr12:45307633-45376053	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links