Variant report

Variant	rs543117660
Chromosome Location	chr3:120626156-120626157
allele	A/G
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	REST	chr3:120626072-120628339	H1-neurons	neurons:	n/a	chr3:120627472-120627485 chr3:120627068-120627081 chr3:120627823-120627833 chr3:120627061-120627081 chr3:120627061-120627081 chr3:120627061-120627075 chr3:120627065-120627078 chr3:120627061-120627081

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:120626135-120626185	HepG2	liver:	n/a
2	chr3:120626135-120626185	HNPCEpiC	eye:	n/a
3	chr3:120626135-120626185	BJ	skin:	n/a
4	chr3:120626135-120626185	GM12878	blood:	n/a
5	chr3:120626135-120626185	GM12892	blood:	n/a
6	chr3:120626135-120626185	MCF-7	breast:	n/a
7	chr3:120626135-120626185	HEK293	kidney:	embryo
8	chr3:120626135-120626185	HCPEpiC	choroid plexus:	n/a
9	chr3:120626135-120626185	SAEC	small airway:	n/a
10	chr3:120626135-120626185	Jurkat	blood:	n/a
11	chr3:120626135-120626185	PrEC	prostate:	n/a
12	chr3:120626135-120626185	AG04449	skin:	fetal
13	chr3:120626135-120626185	CMK	blood:	n/a
14	chr3:120626135-120626185	PANC-1	pancreas:	n/a
15	chr3:120626135-120626185	U87	brain:	n/a
16	chr3:120626135-120626185	AoSMC	blood vessel:	n/a
17	chr3:120626135-120626185	Caco-2	colon:	n/a
18	chr3:120626135-120626185	NT2-D1	testis:	n/a
19	chr3:120626135-120626185	HAEpiC	amniotic membrane:	n/a
20	chr3:120626135-120626185	A549	lung:	n/a
21	chr3:120626135-120626185	K562	blood:	n/a
22	chr3:120626135-120626185	SKMC	muscle:	n/a
23	chr3:120626135-120626185	GM06990	blood:	n/a
24	chr3:120626135-120626185	MCF10A-Er-Src	breast:	n/a
25	chr3:120626135-120626185	GM19239	blood:	n/a
26	chr3:120626135-120626185	HRCEpiC	kidney:	n/a
27	chr3:120626135-120626185	ECC-1	luminal epithelium:	n/a
28	chr3:120626135-120626185	ovcar-3	ovarian:	n/a
29	chr3:120626135-120626185	PFSK-1	brain:	n/a
30	chr3:120626135-120626185	Hepatocyte	liver:	n/a
31	chr3:120626135-120626185	LNCaP	prostate:	n/a
32	chr3:120626135-120626185	SK-N-SH_RA	brain:	n/a
33	chr3:120626135-120626185	IMR90	lung:	fetal
34	chr3:120626135-120626185	GM12891	blood:	n/a
35	chr3:120626135-120626185	HL-60	blood:	n/a
36	chr3:120626135-120626185	NHBE	bronchial:	n/a
37	chr3:120626135-120626185	HIPEpiC	eye:	n/a
38	chr3:120626135-120626185	AG09319	gingival:	n/a
39	chr3:120626135-120626185	BE2_C	brain:	n/a
40	chr3:120626135-120626185	HRPEpiC	eye:	n/a
41	chr3:120626135-120626185	NB4	blood:	n/a
42	chr3:120626135-120626185	HCF	heart:	n/a
43	chr3:120626135-120626185	HRE	kidney:	n/a
44	chr3:120626135-120626185	RPTEC	kidney:	n/a
45	chr3:120626135-120626185	SK-N-SH	brain:	n/a
46	chr3:120626135-120626185	HPAEpiC	pulmonary alveolar:	n/a
47	chr3:120626135-120626185	HUVEC	blood vessel:	n/a
48	chr3:120626135-120626185	ProgFib	skin:	n/a
49	chr3:120626135-120626185	SK-N-MC	brain:	n/a
50	chr3:120626135-120626185	T-47D	breast:	n/a

No data

Variant related genes	Relation type
STXBP5L	TF binding region
STXBP5L	CpG island

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv869548	chr3:120320731-121076337	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv916869	chr3:120360281-120973169	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv829700	chr3:120469191-120675763	Strong transcription Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	esv3431805	chr3:120626112-120628860	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120626000-120626200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr3:120626000-120627800	Active TSS	iPS-20b Cell Line	embryonic stem cell

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