Variant report

Variant	rs1958413
Chromosome Location	chr14:64228627-64228628
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr14:64228567-64228690	K562	blood:	n/a	chr14:64228605-64228615 chr14:64228602-64228612
2	HMGN3	chr14:64228494-64228754	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:64228599-64228649	Caco-2	colon:	n/a
2	chr14:64228624-64228674	HEK293	kidney:	embryo
3	chr14:64228624-64228674	ProgFib	skin:	n/a
4	chr14:64228599-64228649	HIPEpiC	eye:	n/a
5	chr14:64228624-64228674	K562	blood:	n/a
6	chr14:64228624-64228674	CMK	blood:	n/a
7	chr14:64228624-64228674	NHDF-neo	bronchial:	n/a
8	chr14:64228624-64228674	NB4	blood:	n/a
9	chr14:64228599-64228649	HRE	kidney:	n/a
10	chr14:64228624-64228674	U87	brain:	n/a
11	chr14:64228599-64228649	ovcar-3	ovarian:	n/a
12	chr14:64228624-64228674	HepG2	liver:	n/a
13	chr14:64228624-64228674	HCT-116	colon:	n/a
14	chr14:64228599-64228649	HEK293	kidney:	embryo
15	chr14:64228599-64228649	K562	blood:	n/a
16	chr14:64228599-64228649	LNCaP	prostate:	n/a
17	chr14:64228624-64228674	LNCaP	prostate:	n/a
18	chr14:64228624-64228674	AG04449	skin:	fetal
19	chr14:64228599-64228649	ProgFib	skin:	n/a
20	chr14:64228599-64228649	ECC-1	luminal epithelium:	n/a
21	chr14:64228624-64228674	Caco-2	colon:	n/a
22	chr14:64228624-64228674	SK-N-MC	brain:	n/a
23	chr14:64228599-64228649	Hepatocyte	liver:	n/a
24	chr14:64228599-64228649	MCF10A-Er-Src	breast:	n/a
25	chr14:64228624-64228674	AoSMC	blood vessel:	n/a
26	chr14:64228624-64228674	MCF-7	breast:	n/a
27	chr14:64228599-64228649	HepG2	liver:	n/a
28	chr14:64228599-64228649	GM19239	blood:	n/a
29	chr14:64228599-64228649	HCT-116	colon:	n/a
30	chr14:64228599-64228649	AG04450	lung:	fetal
31	chr14:64228624-64228674	HUVEC	blood vessel:	n/a
32	chr14:64228599-64228649	BJ	skin:	n/a
33	chr14:64228599-64228649	A549	lung:	n/a
34	chr14:64228624-64228674	HL-60	blood:	n/a
35	chr14:64228599-64228649	HL-60	blood:	n/a
36	chr14:64228599-64228649	SKMC	muscle:	n/a
37	chr14:64228624-64228674	NT2-D1	testis:	n/a
38	chr14:64228624-64228674	NHBE	bronchial:	n/a
39	chr14:64228599-64228649	AG09319	gingival:	n/a
40	chr14:64228599-64228649	AoSMC	blood vessel:	n/a
41	chr14:64228599-64228649	HMEC	breast:	n/a
42	chr14:64228624-64228674	SK-N-SH_RA	brain:	n/a
43	chr14:64228624-64228674	Jurkat	blood:	n/a
44	chr14:64228624-64228674	H1-hESC	embryonic stem cell:	embryo
45	chr14:64228599-64228649	CMK	blood:	n/a
46	chr14:64228624-64228674	BJ	skin:	n/a
47	chr14:64228599-64228649	HNPCEpiC	eye:	n/a
48	chr14:64228624-64228674	HRCEpiC	kidney:	n/a
49	chr14:64228599-64228649	PANC-1	pancreas:	n/a
50	chr14:64228599-64228649	NT2-D1	testis:	n/a

No data

Variant related genes	Relation type
ENSG00000258411	TF binding region
ENSG00000258411	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11158515	0.85[JPT][hapmap]
rs11158518	0.85[JPT][hapmap]
rs11622195	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11626911	0.85[JPT][hapmap]
rs11628650	0.85[JPT][hapmap]
rs12431956	0.85[JPT][hapmap]
rs4902253	0.85[JPT][hapmap];1.00[YRI][hapmap]
rs8010312	0.81[JPT][hapmap]
rs8017009	0.81[JPT][hapmap]
rs998242	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1048645	chr14:64057327-64283872	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1037824	chr14:64119493-64254025	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1958413	C14orf39	cis	cerebellum	SCAN
rs1958413	FLJ43390	cis	cerebellum	SCAN
rs1958413	FNTB	cis	parietal	SCAN
rs1958413	PPM1A	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64216400-64230200	Weak transcription	HepG2	liver
2	chr14:64220000-64243400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:64226600-64234800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr14:64228200-64228800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr14:64228200-64228800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr14:64228200-64230800	Active TSS	Primary B cells from cord blood	blood
7	chr14:64228400-64228800	Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr14:64228400-64228800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:64228400-64228800	Flanking Active TSS	Placenta	Placenta
10	chr14:64228400-64228800	Active TSS	Placenta Amnion	Placenta Amnion
11	chr14:64228400-64229800	Active TSS	Primary hematopoietic stem cells	blood
12	chr14:64228600-64229000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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