Variant report

Variant	rs72950813
Chromosome Location	chr2:58478359-58478360
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	chr2:58478331-58478381	SK-N-SH	brain:	n/a
2	chr2:58478331-58478381	BE2_C	brain:	n/a
3	chr2:58478331-58478381	GM12891	blood:	n/a
4	chr2:58478331-58478381	BJ	skin:	n/a
5	chr2:58478331-58478381	GM06990	blood:	n/a
6	chr2:58478331-58478381	PFSK-1	brain:	n/a
7	chr2:58478331-58478381	HCT-116	colon:	n/a
8	chr2:58478331-58478381	HPAEpiC	pulmonary alveolar:	n/a
9	chr2:58478331-58478381	K562	blood:	n/a
10	chr2:58478331-58478381	U87	brain:	n/a
11	chr2:58478331-58478381	MCF10A-Er-Src	breast:	n/a
12	chr2:58478331-58478381	HAEpiC	amniotic membrane:	n/a
13	chr2:58478331-58478381	AG09309	skin:	n/a
14	chr2:58478331-58478381	NH-A	brain:	n/a
15	chr2:58478331-58478381	Jurkat	blood:	n/a
16	chr2:58478331-58478381	HepG2	liver:	n/a
17	chr2:58478331-58478381	NHBE	bronchial:	n/a
18	chr2:58478331-58478381	HCPEpiC	choroid plexus:	n/a
19	chr2:58478331-58478381	MCF-7	breast:	n/a
20	chr2:58478331-58478381	GM19239	blood:	n/a
21	chr2:58478331-58478381	HRCEpiC	kidney:	n/a
22	chr2:58478331-58478381	AG10803	skin:	n/a
23	chr2:58478331-58478381	HEEpiC	esophagus:	n/a
24	chr2:58478331-58478381	AG04450	lung:	fetal
25	chr2:58478331-58478381	PrEC	prostate:	n/a
26	chr2:58478331-58478381	HUVEC	blood vessel:	n/a
27	chr2:58478331-58478381	HRPEpiC	eye:	n/a
28	chr2:58478331-58478381	HIPEpiC	eye:	n/a
29	chr2:58478331-58478381	SK-N-SH_RA	brain:	n/a
30	chr2:58478331-58478381	H1-hESC	embryonic stem cell:	embryo
31	chr2:58478331-58478381	NB4	blood:	n/a
32	chr2:58478331-58478381	AG09319	gingival:	n/a
33	chr2:58478331-58478381	AG04449	skin:	fetal
34	chr2:58478331-58478381	HCM	heart:	n/a
35	chr2:58478331-58478381	HRE	kidney:	n/a
36	chr2:58478331-58478381	HNPCEpiC	eye:	n/a
37	chr2:58478331-58478381	ProgFib	skin:	n/a
38	chr2:58478331-58478381	IMR90	lung:	fetal
39	chr2:58478331-58478381	SK-N-MC	brain:	n/a
40	chr2:58478331-58478381	NHDF-neo	bronchial:	n/a
41	chr2:58478331-58478381	Hela-S3	cervix:	n/a
42	chr2:58478331-58478381	HEK293	kidney:	embryo
43	chr2:58478331-58478381	GM12892	blood:	n/a
44	chr2:58478331-58478381	ECC-1	luminal epithelium:	n/a
45	chr2:58478331-58478381	HL-60	blood:	n/a
46	chr2:58478331-58478381	Caco-2	colon:	n/a
47	chr2:58478331-58478381	CMK	blood:	n/a
48	chr2:58478331-58478381	SAEC	small airway:	n/a
49	chr2:58478331-58478381	NT2-D1	testis:	n/a
50	chr2:58478331-58478381	GM12878	blood:	n/a

No data

Variant related genes	Relation type
EIF3FP3	CpG island

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10179025	1.00[EUR][1000 genomes]
rs72942656	1.00[AFR][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	nsv999042	chr2:58326123-58530903	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv535734	chr2:58326123-58530903	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv979006	chr2:58477513-58480966	Inactive region	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

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

No data

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

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