Variant report

Variant	rs181791046
Chromosome Location	chr1:120387300-120387301
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr1:120387188-120387731	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:120387271-120387696	GM12878	blood:	n/a	n/a
3	POU2F2	chr1:120387279-120387719	GM12878	blood:	n/a	n/a
4	FOSL2	chr1:120387300-120387606	HepG2	liver:	n/a	n/a
5	SP1	chr1:120387274-120387618	GM12878	blood:	n/a	n/a
6	ZBTB33	chr1:120387255-120387542	GM12878	blood:	n/a	n/a
7	CTCF	chr1:120386838-120387335	K562	blood:	n/a	n/a
8	IRF4	chr1:120387268-120387796	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:120387000-120387680	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:120387299-120387349	Hela-S3	cervix:	n/a
2	chr1:120387299-120387349	ECC-1	luminal epithelium:	n/a
3	chr1:120387299-120387349	GM06990	blood:	n/a
4	chr1:120387299-120387349	AG04449	skin:	fetal
5	chr1:120387299-120387349	NT2-D1	testis:	n/a
6	chr1:120387299-120387349	AG10803	skin:	n/a
7	chr1:120387299-120387349	GM12892	blood:	n/a
8	chr1:120387299-120387349	U87	brain:	n/a
9	chr1:120387299-120387349	HEEpiC	esophagus:	n/a
10	chr1:120387299-120387349	GM19239	blood:	n/a
11	chr1:120387299-120387349	SKMC	muscle:	n/a
12	chr1:120387299-120387349	PrEC	prostate:	n/a
13	chr1:120387299-120387349	SAEC	small airway:	n/a
14	chr1:120387299-120387349	HRE	kidney:	n/a
15	chr1:120387299-120387349	HAEpiC	amniotic membrane:	n/a
16	chr1:120387299-120387349	SK-N-SH	brain:	n/a
17	chr1:120387299-120387349	A549	lung:	n/a
18	chr1:120387299-120387349	HRPEpiC	eye:	n/a
19	chr1:120387299-120387349	SK-N-SH_RA	brain:	n/a
20	chr1:120387299-120387349	HPAEpiC	pulmonary alveolar:	n/a
21	chr1:120387299-120387349	HCPEpiC	choroid plexus:	n/a
22	chr1:120387299-120387349	ProgFib	skin:	n/a
23	chr1:120387299-120387349	HL-60	blood:	n/a
24	chr1:120387299-120387349	IMR90	lung:	fetal
25	chr1:120387299-120387349	H1-hESC	embryonic stem cell:	embryo
26	chr1:120387299-120387349	HepG2	liver:	n/a
27	chr1:120387299-120387349	HMEC	breast:	n/a
28	chr1:120387299-120387349	NHBE	bronchial:	n/a
29	chr1:120387299-120387349	HNPCEpiC	eye:	n/a
30	chr1:120387299-120387349	HIPEpiC	eye:	n/a
31	chr1:120387299-120387349	AG09319	gingival:	n/a
32	chr1:120387299-120387349	CMK	blood:	n/a
33	chr1:120387299-120387349	LNCaP	prostate:	n/a
34	chr1:120387299-120387349	NHDF-neo	bronchial:	n/a
35	chr1:120387299-120387349	ovcar-3	ovarian:	n/a
36	chr1:120387299-120387349	HEK293	kidney:	embryo
37	chr1:120387299-120387349	HCF	heart:	n/a
38	chr1:120387299-120387349	NB4	blood:	n/a
39	chr1:120387299-120387349	K562	blood:	n/a
40	chr1:120387299-120387349	GM12878	blood:	n/a
41	chr1:120387299-120387349	Jurkat	blood:	n/a
42	chr1:120387299-120387349	PANC-1	pancreas:	n/a
43	chr1:120387299-120387349	NH-A	brain:	n/a
44	chr1:120387299-120387349	SK-N-MC	brain:	n/a
45	chr1:120387299-120387349	PFSK-1	brain:	n/a
46	chr1:120387299-120387349	BE2_C	brain:	n/a
47	chr1:120387299-120387349	AoSMC	blood vessel:	n/a
48	chr1:120387299-120387349	AG09309	skin:	n/a
49	chr1:120387299-120387349	GM12891	blood:	n/a
50	chr1:120387299-120387349	HUVEC	blood vessel:	n/a

No data

Variant related genes	Relation type
NBPF7	TF binding region
NBPF7	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv831215	chr1:120266449-120448469	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv915933	chr1:120323527-120471049	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv831226	chr1:120331599-120471049	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv533996	chr1:120359524-120471049	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv872180	chr1:120366055-120412885	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv946187	chr1:120370078-120406007	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv945590	chr1:120384193-120387925	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
13	nsv10672	chr1:120386985-120410007	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	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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