Variant report

Variant	rs544922225
Chromosome Location	chr2:96148090-96148091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:96148072-96148126	Medullo	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:96148075-96148125	HepG2	liver:	n/a
2	chr2:96148075-96148125	LNCaP	prostate:	n/a
3	chr2:96148075-96148125	PrEC	prostate:	n/a
4	chr2:96148075-96148125	Hepatocyte	liver:	n/a
5	chr2:96148075-96148125	HCT-116	colon:	n/a
6	chr2:96148075-96148125	HL-60	blood:	n/a
7	chr2:96148075-96148125	SAEC	small airway:	n/a
8	chr2:96148075-96148125	U87	brain:	n/a
9	chr2:96148075-96148125	PANC-1	pancreas:	n/a
10	chr2:96148075-96148125	HIPEpiC	eye:	n/a
11	chr2:96148075-96148125	Jurkat	blood:	n/a
12	chr2:96148075-96148125	GM12892	blood:	n/a
13	chr2:96148075-96148125	HPAEpiC	pulmonary alveolar:	n/a
14	chr2:96148075-96148125	SK-N-SH_RA	brain:	n/a
15	chr2:96148075-96148125	SK-N-MC	brain:	n/a
16	chr2:96148075-96148125	HEK293	kidney:	embryo
17	chr2:96148075-96148125	K562	blood:	n/a
18	chr2:96148075-96148125	Hela-S3	cervix:	n/a
19	chr2:96148075-96148125	HNPCEpiC	eye:	n/a
20	chr2:96148075-96148125	H1-hESC	embryonic stem cell:	embryo
21	chr2:96148075-96148125	HCM	heart:	n/a
22	chr2:96148075-96148125	GM12878	blood:	n/a
23	chr2:96148075-96148125	SKMC	muscle:	n/a
24	chr2:96148075-96148125	NB4	blood:	n/a
25	chr2:96148075-96148125	NHBE	bronchial:	n/a
26	chr2:96148075-96148125	GM06990	blood:	n/a
27	chr2:96148075-96148125	CMK	blood:	n/a
28	chr2:96148075-96148125	RPTEC	kidney:	n/a
29	chr2:96148075-96148125	HAEpiC	amniotic membrane:	n/a
30	chr2:96148075-96148125	HUVEC	blood vessel:	n/a
31	chr2:96148075-96148125	ovcar-3	ovarian:	n/a
32	chr2:96148075-96148125	HRCEpiC	kidney:	n/a
33	chr2:96148075-96148125	NHDF-neo	bronchial:	n/a
34	chr2:96148075-96148125	GM19239	blood:	n/a
35	chr2:96148075-96148125	IMR90	lung:	fetal
36	chr2:96148075-96148125	MCF10A-Er-Src	breast:	n/a
37	chr2:96148075-96148125	AG04449	skin:	fetal
38	chr2:96148075-96148125	HCPEpiC	choroid plexus:	n/a
39	chr2:96148075-96148125	HEEpiC	esophagus:	n/a
40	chr2:96148075-96148125	AG09309	skin:	n/a
41	chr2:96148075-96148125	SK-N-SH	brain:	n/a
42	chr2:96148075-96148125	NH-A	brain:	n/a
43	chr2:96148075-96148125	BJ	skin:	n/a
44	chr2:96148075-96148125	HRPEpiC	eye:	n/a
45	chr2:96148075-96148125	AoSMC	blood vessel:	n/a
46	chr2:96148075-96148125	GM12891	blood:	n/a
47	chr2:96148075-96148125	ECC-1	luminal epithelium:	n/a
48	chr2:96148075-96148125	T-47D	breast:	n/a
49	chr2:96148075-96148125	BE2_C	brain:	n/a
50	chr2:96148075-96148125	A549	lung:	n/a

No data

Variant related genes	Relation type
ENSG00000238162	TF binding region
ENSG00000238162	CpG island

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv998014	chr2:95913278-96296630	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv2757818	chr2:95970138-96152559	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv2759076	chr2:95970138-96152559	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3416818	chr2:96072529-96680708	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	nsv961450	chr2:96082078-96152892	Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv834300	chr2:96087967-96337557	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv874660	chr2:96091132-96669134	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv979239	chr2:96145151-96150576	Inactive region	TF binding region CpG island Chromatin interactive region	3 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
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