Variant report

Variant	rs1439131
Chromosome Location	chr2:124785753-124785754
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	chr2:124785716-124785766	IMR90	lung:	fetal
2	chr2:124785716-124785766	SAEC	small airway:	n/a
3	chr2:124785716-124785766	PFSK-1	brain:	n/a
4	chr2:124785716-124785766	LNCaP	prostate:	n/a
5	chr2:124785716-124785766	HRE	kidney:	n/a
6	chr2:124785716-124785766	NHDF-neo	bronchial:	n/a
7	chr2:124785716-124785766	Hela-S3	cervix:	n/a
8	chr2:124785716-124785766	HCT-116	colon:	n/a
9	chr2:124785716-124785766	AG09309	skin:	n/a
10	chr2:124785716-124785766	PANC-1	pancreas:	n/a
11	chr2:124785716-124785766	HIPEpiC	eye:	n/a
12	chr2:124785716-124785766	SK-N-MC	brain:	n/a
13	chr2:124785716-124785766	HCF	heart:	n/a
14	chr2:124785716-124785766	GM12892	blood:	n/a
15	chr2:124785716-124785766	ovcar-3	ovarian:	n/a
16	chr2:124785716-124785766	HepG2	liver:	n/a
17	chr2:124785716-124785766	NHBE	bronchial:	n/a
18	chr2:124785716-124785766	RPTEC	kidney:	n/a
19	chr2:124785716-124785766	H1-hESC	embryonic stem cell:	embryo
20	chr2:124785716-124785766	ProgFib	skin:	n/a
21	chr2:124785716-124785766	MCF-7	breast:	n/a
22	chr2:124785716-124785766	U87	brain:	n/a
23	chr2:124785716-124785766	AG04449	skin:	fetal
24	chr2:124785716-124785766	HPAEpiC	pulmonary alveolar:	n/a
25	chr2:124785716-124785766	AG10803	skin:	n/a
26	chr2:124785716-124785766	CMK	blood:	n/a
27	chr2:124785716-124785766	GM19239	blood:	n/a
28	chr2:124785716-124785766	GM12878	blood:	n/a
29	chr2:124785716-124785766	HRPEpiC	eye:	n/a
30	chr2:124785716-124785766	BE2_C	brain:	n/a
31	chr2:124785716-124785766	Caco-2	colon:	n/a
32	chr2:124785716-124785766	NB4	blood:	n/a
33	chr2:124785716-124785766	ECC-1	luminal epithelium:	n/a
34	chr2:124785716-124785766	AoSMC	blood vessel:	n/a
35	chr2:124785716-124785766	AG04450	lung:	fetal
36	chr2:124785716-124785766	HAEpiC	amniotic membrane:	n/a
37	chr2:124785716-124785766	MCF10A-Er-Src	breast:	n/a
38	chr2:124785716-124785766	PrEC	prostate:	n/a
39	chr2:124785716-124785766	GM06990	blood:	n/a
40	chr2:124785716-124785766	T-47D	breast:	n/a
41	chr2:124785716-124785766	SK-N-SH_RA	brain:	n/a
42	chr2:124785716-124785766	HEK293	kidney:	embryo
43	chr2:124785716-124785766	Hepatocyte	liver:	n/a
44	chr2:124785716-124785766	HEEpiC	esophagus:	n/a
45	chr2:124785716-124785766	SK-N-SH	brain:	n/a
46	chr2:124785716-124785766	SKMC	muscle:	n/a
47	chr2:124785716-124785766	NT2-D1	testis:	n/a
48	chr2:124785716-124785766	NH-A	brain:	n/a
49	chr2:124785716-124785766	GM12891	blood:	n/a
50	chr2:124785716-124785766	HMEC	breast:	n/a

No data

Variant related genes	Relation type
ENSG00000228400	CpG island

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11675400	1.00[CHB][hapmap]
rs11677559	1.00[CHB][hapmap]
rs11686392	1.00[CHB][hapmap]
rs11689672	1.00[CHB][hapmap]
rs11694708	1.00[CHB][hapmap]
rs1213952	0.81[GIH][hapmap]
rs1213971	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1213973	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17211596	1.00[CHB][hapmap]
rs17211765	1.00[CHB][hapmap]
rs17212475	1.00[CHB][hapmap]
rs17213071	1.00[CHB][hapmap]
rs17213092	1.00[CHB][hapmap]
rs17213203	1.00[CHB][hapmap]
rs17270902	1.00[CHB][hapmap]
rs17279088	1.00[CHB][hapmap]
rs17319464	1.00[CHB][hapmap]
rs17319680	1.00[CHB][hapmap]
rs17319771	1.00[CHB][hapmap]
rs17319827	1.00[CHB][hapmap]
rs2420554	1.00[CHB][hapmap]
rs2901195	1.00[CHB][hapmap]
rs4563225	1.00[CHB][hapmap]
rs72845422	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531408	chr2:124727329-125011247	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:124784000-124787000	Active TSS	Fetal Brain Female	brain
2	chr2:124785200-124786200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:124785400-124786200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:124785600-124790400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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