Variant report

Variant	rs446646
Chromosome Location	chr2:95401381-95401382
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:95401340-95401490	HRE	kidney:	n/a	n/a
2	CTCF	chr2:95401347-95401678	K562	blood:	n/a	n/a
3	CTCF	chr2:95401340-95401490	RPTEC	kidney:	n/a	n/a
4	CTCF	chr2:95401340-95401490	HRPEpiC	eye:	n/a	n/a
5	CTCF	chr2:95401320-95401470	GM12873	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:95401381-95401431	PrEC	prostate:	n/a
2	chr2:95401381-95401431	CMK	blood:	n/a
3	chr2:95401381-95401431	BJ	skin:	n/a
4	chr2:95401381-95401431	ovcar-3	ovarian:	n/a
5	chr2:95401381-95401431	HL-60	blood:	n/a
6	chr2:95401381-95401431	NHBE	bronchial:	n/a
7	chr2:95401381-95401431	Hepatocyte	liver:	n/a
8	chr2:95401381-95401431	HepG2	liver:	n/a
9	chr2:95401381-95401431	HIPEpiC	eye:	n/a
10	chr2:95401381-95401431	AG04450	lung:	fetal
11	chr2:95401381-95401431	HRPEpiC	eye:	n/a
12	chr2:95401381-95401431	NB4	blood:	n/a
13	chr2:95401381-95401431	Caco-2	colon:	n/a
14	chr2:95401381-95401431	AG09309	skin:	n/a
15	chr2:95401381-95401431	NHDF-neo	bronchial:	n/a
16	chr2:95401381-95401431	ProgFib	skin:	n/a
17	chr2:95401381-95401431	SK-N-SH	brain:	n/a
18	chr2:95401381-95401431	SKMC	muscle:	n/a
19	chr2:95401381-95401431	NT2-D1	testis:	n/a
20	chr2:95401381-95401431	ECC-1	luminal epithelium:	n/a
21	chr2:95401381-95401431	AG09319	gingival:	n/a
22	chr2:95401381-95401431	MCF-7	breast:	n/a
23	chr2:95401381-95401431	IMR90	lung:	fetal
24	chr2:95401381-95401431	BE2_C	brain:	n/a
25	chr2:95401381-95401431	SK-N-SH_RA	brain:	n/a
26	chr2:95401381-95401431	T-47D	breast:	n/a
27	chr2:95401381-95401431	PANC-1	pancreas:	n/a
28	chr2:95401381-95401431	GM19239	blood:	n/a
29	chr2:95401381-95401431	AoSMC	blood vessel:	n/a
30	chr2:95401381-95401431	RPTEC	kidney:	n/a
31	chr2:95401381-95401431	HRCEpiC	kidney:	n/a
32	chr2:95401381-95401431	HEK293	kidney:	embryo
33	chr2:95401381-95401431	SK-N-MC	brain:	n/a
34	chr2:95401381-95401431	GM06990	blood:	n/a
35	chr2:95401381-95401431	HPAEpiC	pulmonary alveolar:	n/a
36	chr2:95401381-95401431	HCPEpiC	choroid plexus:	n/a
37	chr2:95401381-95401431	PFSK-1	brain:	n/a
38	chr2:95401381-95401431	HEEpiC	esophagus:	n/a
39	chr2:95401381-95401431	LNCaP	prostate:	n/a
40	chr2:95401381-95401431	HRE	kidney:	n/a
41	chr2:95401381-95401431	HCM	heart:	n/a
42	chr2:95401381-95401431	A549	lung:	n/a
43	chr2:95401381-95401431	Jurkat	blood:	n/a
44	chr2:95401381-95401431	GM12891	blood:	n/a
45	chr2:95401381-95401431	HMEC	breast:	n/a
46	chr2:95401381-95401431	K562	blood:	n/a
47	chr2:95401381-95401431	MCF10A-Er-Src	breast:	n/a
48	chr2:95401381-95401431	SAEC	small airway:	n/a
49	chr2:95401381-95401431	GM12878	blood:	n/a
50	chr2:95401381-95401431	GM12892	blood:	n/a

No data

Variant related genes	Relation type
CNN2P8	TF binding region
CNN2P8	CpG island

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv21316	chr2:95326217-95413279	Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
2	nsv829575	chr2:95327442-95413280	Bivalent Enhancer ZNF genes & repeats Enhancers	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
3	nsv1006145	chr2:95327875-95413280	Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
4	nsv1000661	chr2:95327875-95739468	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv1005016	chr2:95327875-95914467	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv10087	chr2:95340538-95413280	Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
7	esv2759075	chr2:95358799-95620108	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv963658	chr2:95387376-95413280	Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
9	nsv979226	chr2:95401169-95404486	Bivalent Enhancer Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95401200-95402400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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