Variant report

Variant	rs78707420
Chromosome Location	chr2:169756971-169756972
allele	A/C
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:1)
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	HNF4A	chr2:169756784-169757032	HepG2	liver:	n/a	chr2:169756862-169756877 chr2:169756870-169756878 chr2:169756861-169756876

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No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:169756942-169756992	AoSMC	blood vessel:	n/a
2	chr2:169756942-169756992	CMK	blood:	n/a
3	chr2:169756942-169756992	A549	lung:	n/a
4	chr2:169756942-169756992	PrEC	prostate:	n/a
5	chr2:169756942-169756992	MCF10A-Er-Src	breast:	n/a
6	chr2:169756942-169756992	BJ	skin:	n/a
7	chr2:169756942-169756992	GM19239	blood:	n/a
8	chr2:169756942-169756992	HPAEpiC	pulmonary alveolar:	n/a
9	chr2:169756942-169756992	GM06990	blood:	n/a
10	chr2:169756942-169756992	HRCEpiC	kidney:	n/a
11	chr2:169756942-169756992	HRPEpiC	eye:	n/a
12	chr2:169756942-169756992	ECC-1	luminal epithelium:	n/a
13	chr2:169756942-169756992	SAEC	small airway:	n/a
14	chr2:169756942-169756992	HepG2	liver:	n/a
15	chr2:169756942-169756992	NB4	blood:	n/a
16	chr2:169756942-169756992	NH-A	brain:	n/a
17	chr2:169756942-169756992	K562	blood:	n/a
18	chr2:169756942-169756992	HEEpiC	esophagus:	n/a
19	chr2:169756942-169756992	SKMC	muscle:	n/a
20	chr2:169756942-169756992	AG10803	skin:	n/a
21	chr2:169756942-169756992	AG09309	skin:	n/a
22	chr2:169756942-169756992	ProgFib	skin:	n/a
23	chr2:169756942-169756992	AG04450	lung:	fetal
24	chr2:169756942-169756992	HCT-116	colon:	n/a
25	chr2:169756942-169756992	HCM	heart:	n/a
26	chr2:169756942-169756992	Jurkat	blood:	n/a
27	chr2:169756942-169756992	NHBE	bronchial:	n/a
28	chr2:169756942-169756992	IMR90	lung:	fetal
29	chr2:169756942-169756992	HCPEpiC	choroid plexus:	n/a
30	chr2:169756942-169756992	NT2-D1	testis:	n/a
31	chr2:169756942-169756992	H1-hESC	embryonic stem cell:	embryo
32	chr2:169756942-169756992	HAEpiC	amniotic membrane:	n/a
33	chr2:169756942-169756992	GM12878	blood:	n/a
34	chr2:169756942-169756992	PFSK-1	brain:	n/a
35	chr2:169756942-169756992	HNPCEpiC	eye:	n/a
36	chr2:169756942-169756992	HEK293	kidney:	embryo
37	chr2:169756942-169756992	HIPEpiC	eye:	n/a
38	chr2:169756942-169756992	NHDF-neo	bronchial:	n/a
39	chr2:169756942-169756992	HUVEC	blood vessel:	n/a
40	chr2:169756942-169756992	T-47D	breast:	n/a
41	chr2:169756942-169756992	GM12891	blood:	n/a
42	chr2:169756942-169756992	Hepatocyte	liver:	n/a
43	chr2:169756942-169756992	SK-N-SH	brain:	n/a
44	chr2:169756942-169756992	LNCaP	prostate:	n/a
45	chr2:169756942-169756992	PANC-1	pancreas:	n/a
46	chr2:169756942-169756992	MCF-7	breast:	n/a
47	chr2:169756942-169756992	HMEC	breast:	n/a
48	chr2:169756942-169756992	GM12892	blood:	n/a
49	chr2:169756942-169756992	SK-N-SH_RA	brain:	n/a
50	chr2:169756942-169756992	AG09319	gingival:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:169755958..169758089-chr2:169767448..169770171,2	K562	blood:

No data

Variant related genes	Relation type
G6PC2	TF binding region
G6PC2	CpG island
ENSG00000152253	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv459943	chr2:169756930-169799010	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv583600	chr2:169756930-169799010	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169747000-169757600	Weak transcription	Pancreas	Pancrea
2	chr2:169756600-169757200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr2:169756600-169758000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:169756800-169757000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:169756800-169757800	Enhancers	Brain Cingulate Gyrus	brain

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