Variant report

Variant	rs1256529
Chromosome Location	chr14:65744470-65744471
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:65744370-65744587	K562	blood:	n/a	n/a
2	MAX	chr14:65744420-65744636	K562	blood:	n/a	n/a
3	RCOR1	chr14:65744290-65744642	K562	blood:	n/a	n/a
4	JUND	chr14:65744334-65744599	K562	blood:	n/a	n/a
5	MYC	chr14:65744340-65744686	K562	blood:	n/a	n/a
6	TAL1	chr14:65744368-65744567	K562	blood:	n/a	n/a
7	POLR2A	chr14:65744450-65744555	K562	blood:	n/a	n/a
8	MYC	chr14:65744323-65744665	K562	blood:	n/a	n/a
9	BHLHE40	chr14:65744309-65744653	K562	blood:	n/a	n/a
10	TEAD4	chr14:65744279-65744600	K562	blood:	n/a	n/a
11	GATA1	chr14:65743864-65744819	PBDE	blood:	n/a	n/a
12	SPI1	chr14:65744357-65744612	K562	blood:	n/a	n/a
13	EP300	chr14:65744303-65744615	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:65744457-65744507	NHDF-neo	bronchial:	n/a
2	chr14:65744457-65744507	K562	blood:	n/a
3	chr14:65744457-65744507	LNCaP	prostate:	n/a
4	chr14:65744457-65744507	AG09319	gingival:	n/a
5	chr14:65744457-65744507	HNPCEpiC	eye:	n/a
6	chr14:65744457-65744507	AG04449	skin:	fetal
7	chr14:65744457-65744507	NH-A	brain:	n/a
8	chr14:65744457-65744507	GM12878	blood:	n/a
9	chr14:65744457-65744507	GM12892	blood:	n/a
10	chr14:65744457-65744507	GM12891	blood:	n/a
11	chr14:65744457-65744507	GM06990	blood:	n/a
12	chr14:65744457-65744507	T-47D	breast:	n/a
13	chr14:65744457-65744507	Hela-S3	cervix:	n/a
14	chr14:65744457-65744507	ovcar-3	ovarian:	n/a
15	chr14:65744457-65744507	HUVEC	blood vessel:	n/a
16	chr14:65744457-65744507	Jurkat	blood:	n/a
17	chr14:65744457-65744507	HEEpiC	esophagus:	n/a
18	chr14:65744457-65744507	Hepatocyte	liver:	n/a
19	chr14:65744457-65744507	HEK293	kidney:	embryo
20	chr14:65744457-65744507	A549	lung:	n/a
21	chr14:65744457-65744507	HL-60	blood:	n/a
22	chr14:65744457-65744507	HAEpiC	amniotic membrane:	n/a
23	chr14:65744457-65744507	GM19239	blood:	n/a
24	chr14:65744457-65744507	HRPEpiC	eye:	n/a
25	chr14:65744457-65744507	HIPEpiC	eye:	n/a
26	chr14:65744457-65744507	PANC-1	pancreas:	n/a
27	chr14:65744457-65744507	NT2-D1	testis:	n/a
28	chr14:65744457-65744507	NHBE	bronchial:	n/a
29	chr14:65744457-65744507	IMR90	lung:	fetal
30	chr14:65744457-65744507	ECC-1	luminal epithelium:	n/a
31	chr14:65744457-65744507	MCF10A-Er-Src	breast:	n/a
32	chr14:65744457-65744507	HepG2	liver:	n/a
33	chr14:65744457-65744507	BE2_C	brain:	n/a
34	chr14:65744457-65744507	PrEC	prostate:	n/a
35	chr14:65744457-65744507	AoSMC	blood vessel:	n/a
36	chr14:65744457-65744507	AG04450	lung:	fetal
37	chr14:65744457-65744507	MCF-7	breast:	n/a
38	chr14:65744457-65744507	NB4	blood:	n/a
39	chr14:65744457-65744507	SK-N-SH	brain:	n/a
40	chr14:65744457-65744507	HMEC	breast:	n/a
41	chr14:65744457-65744507	ProgFib	skin:	n/a
42	chr14:65744457-65744507	H1-hESC	embryonic stem cell:	embryo
43	chr14:65744457-65744507	AG10803	skin:	n/a
44	chr14:65744457-65744507	BJ	skin:	n/a
45	chr14:65744457-65744507	HCT-116	colon:	n/a
46	chr14:65744457-65744507	HPAEpiC	pulmonary alveolar:	n/a
47	chr14:65744457-65744507	AG09309	skin:	n/a
48	chr14:65744457-65744507	SK-N-MC	brain:	n/a
49	chr14:65744457-65744507	CMK	blood:	n/a
50	chr14:65744457-65744507	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65737240..65740930-chr14:65741747..65745215,4	MCF-7	breast:
2	chr14:65742677..65744892-chr14:65746374..65749095,2	MCF-7	breast:

No data

Variant related genes	Relation type
PTBP1P	TF binding region
PTBP1P	CpG island

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10131559	1.00[EUR][1000 genomes]
rs1256532	1.00[EUR][1000 genomes]
rs1256535	1.00[EUR][1000 genomes]
rs1256545	1.00[EUR][1000 genomes]
rs55791657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58419427	1.00[EUR][1000 genomes]
rs59483989	1.00[EUR][1000 genomes]
rs61735911	1.00[EUR][1000 genomes]
rs6573603	1.00[EUR][1000 genomes]
rs7144841	1.00[EUR][1000 genomes]
rs7157687	1.00[EUR][1000 genomes]
rs74056715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74059024	1.00[EUR][1000 genomes]
rs8004406	1.00[EUR][1000 genomes]
rs8014200	1.00[EUR][1000 genomes]

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	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65697200-65746800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:65727400-65749600	Weak transcription	Gastric	stomach
3	chr14:65735800-65748600	Weak transcription	GM12878-XiMat	blood
4	chr14:65736200-65748400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr14:65741600-65746800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:65742000-65745400	Enhancers	Brain Substantia Nigra	brain
7	chr14:65742400-65747000	Enhancers	Brain Hippocampus Middle	brain
8	chr14:65743200-65744800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr14:65743200-65745000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:65743200-65745400	Enhancers	Brain Anterior Caudate	brain
11	chr14:65743400-65744600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:65743400-65746800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr14:65743600-65744600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:65743600-65745000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr14:65743600-65746400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:65743800-65744600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:65743800-65744600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr14:65743800-65744600	Enhancers	HMEC	breast
19	chr14:65743800-65744800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:65744000-65744600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr14:65744000-65744600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:65744000-65744800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:65744000-65744800	Enhancers	Small Intestine	intestine
24	chr14:65744000-65745000	Enhancers	Fetal Intestine Small	intestine
25	chr14:65744000-65748600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr14:65744000-65748600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:65744000-65748600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr14:65744000-65748800	Weak transcription	HSMMtube	muscle
29	chr14:65744200-65744600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr14:65744200-65745600	Enhancers	Stomach Mucosa	stomach
31	chr14:65744200-65748400	Weak transcription	NHDF-Ad	bronchial
32	chr14:65744200-65748600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:65744200-65748600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr14:65744200-65748600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:65744200-65748600	Weak transcription	Brain Angular Gyrus	brain
36	chr14:65744200-65748600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr14:65744200-65748600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:65744200-65748600	Weak transcription	A549	lung
39	chr14:65744200-65748800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:65744200-65748800	Weak transcription	NHEK	skin
41	chr14:65744200-65749000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr14:65744400-65744600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:65744400-65744600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links