Variant report

Variant	rs116071509
Chromosome Location	chr11:49123374-49123375
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	chr11:49123325-49123375	HEK293	kidney:	embryo
2	chr11:49123325-49123375	HUVEC	blood vessel:	n/a
3	chr11:49123325-49123375	AG10803	skin:	n/a
4	chr11:49123325-49123375	SAEC	small airway:	n/a
5	chr11:49123325-49123375	SK-N-SH	brain:	n/a
6	chr11:49123325-49123375	AG09319	gingival:	n/a
7	chr11:49123325-49123375	PANC-1	pancreas:	n/a
8	chr11:49123325-49123375	ProgFib	skin:	n/a
9	chr11:49123325-49123375	PrEC	prostate:	n/a
10	chr11:49123325-49123375	GM12892	blood:	n/a
11	chr11:49123325-49123375	CMK	blood:	n/a
12	chr11:49123325-49123375	HIPEpiC	eye:	n/a
13	chr11:49123325-49123375	A549	lung:	n/a
14	chr11:49123325-49123375	PFSK-1	brain:	n/a
15	chr11:49123325-49123375	ECC-1	luminal epithelium:	n/a
16	chr11:49123325-49123375	GM06990	blood:	n/a
17	chr11:49123325-49123375	NB4	blood:	n/a
18	chr11:49123325-49123375	SK-N-SH_RA	brain:	n/a
19	chr11:49123325-49123375	Hepatocyte	liver:	n/a
20	chr11:49123325-49123375	AG09309	skin:	n/a
21	chr11:49123325-49123375	HCF	heart:	n/a
22	chr11:49123325-49123375	H1-hESC	embryonic stem cell:	embryo
23	chr11:49123325-49123375	ovcar-3	ovarian:	n/a
24	chr11:49123325-49123375	GM12878	blood:	n/a
25	chr11:49123325-49123375	AG04450	lung:	fetal
26	chr11:49123325-49123375	HPAEpiC	pulmonary alveolar:	n/a
27	chr11:49123325-49123375	HCM	heart:	n/a
28	chr11:49123325-49123375	GM19239	blood:	n/a
29	chr11:49123325-49123375	MCF-7	breast:	n/a
30	chr11:49123325-49123375	Jurkat	blood:	n/a
31	chr11:49123325-49123375	RPTEC	kidney:	n/a
32	chr11:49123325-49123375	Caco-2	colon:	n/a
33	chr11:49123325-49123375	NT2-D1	testis:	n/a
34	chr11:49123325-49123375	SKMC	muscle:	n/a
35	chr11:49123325-49123375	NHDF-neo	bronchial:	n/a
36	chr11:49123325-49123375	GM12891	blood:	n/a
37	chr11:49123325-49123375	LNCaP	prostate:	n/a
38	chr11:49123325-49123375	HNPCEpiC	eye:	n/a
39	chr11:49123325-49123375	T-47D	breast:	n/a
40	chr11:49123325-49123375	NHBE	bronchial:	n/a
41	chr11:49123325-49123375	IMR90	lung:	fetal
42	chr11:49123325-49123375	HEEpiC	esophagus:	n/a
43	chr11:49123325-49123375	HCPEpiC	choroid plexus:	n/a
44	chr11:49123325-49123375	NH-A	brain:	n/a
45	chr11:49123325-49123375	AG04449	skin:	fetal
46	chr11:49123325-49123375	BJ	skin:	n/a
47	chr11:49123325-49123375	U87	brain:	n/a
48	chr11:49123325-49123375	MCF10A-Er-Src	breast:	n/a
49	chr11:49123325-49123375	HAEpiC	amniotic membrane:	n/a
50	chr11:49123325-49123375	SK-N-MC	brain:	n/a

No data

Variant related genes	Relation type
ENSG00000254412	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759824	chr11:48303671-49185190	Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	esv1828260	chr11:48735614-49162948	Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv427886	chr11:48850348-49185190	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	esv2758268	chr11:48856977-49185190	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv469956	chr11:48922645-49862647	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv832145	chr11:49002873-49185190	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1054955	chr11:49007476-49138758	Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv897484	chr11:49042866-49162948	ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region CpG island lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv983012	chr11:49088073-49124095	Enhancers	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv1835275	chr11:49111467-49131149	Enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv554347	chr11:49111467-49862647	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

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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