Variant report

Variant	nsv977459
Chromosome Location	chr14:39623512-39627427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:39624048-39624342	HepG2	liver:	n/a	chr14:39624187-39624198
2	CEBPB	chr14:39624114-39624246	A549	lung:	n/a	chr14:39624187-39624198
3	CEBPB	chr14:39624123-39624272	HepG2	liver:	n/a	chr14:39624187-39624198
4	CEBPB	chr14:39624045-39624347	HepG2	liver:	n/a	chr14:39624187-39624198
5	FOXA1	chr14:39623993-39624292	HepG2	liver:	n/a	n/a
6	POLR2A	chr14:39623902-39623915	K562	blood:	n/a	n/a
7	POLR2A	chr14:39624218-39624281	ProgFib	skin:	n/a	n/a
8	POLR2A	chr14:39624182-39624210	ProgFib	skin:	n/a	n/a
9	POLR2A	chr14:39624042-39624344	HL-60	blood:	n/a	n/a
10	POLR2A	chr14:39626000-39626195	MCF-7	breast:	n/a	n/a
11	POLR2A	chr14:39623938-39624469	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:39624043..39626785-chr14:39637503..39639794,2	K562	blood:
2	chr14:39622454..39625117-chr14:39628651..39631009,2	K562	blood:
3	chr14:39591499..39594370-chr14:39626411..39628050,2	K562	blood:

Variant related genes	Relation type
RPL7AP2	TF binding region
ENSG00000182400	chromatin interactions

Extended variants
information (count: 165 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142476037	chr14:39623513-39623514	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12147991	chr14:39623533-39623534	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs182141172	chr14:39623540-39623541	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs45552842	chr14:39623615-39623616	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573591246	chr14:39623648-39623649	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536152570	chr14:39623676-39623677	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530011643	chr14:39623693-39623694	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555690859	chr14:39623731-39623732	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77741582	chr14:39623748-39623749	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374578704	chr14:39623814-39623815	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143304614	chr14:39623821-39623822	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545052356	chr14:39623893-39623894	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564811260	chr14:39623922-39623923	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572133289	chr14:39623978-39623979	Weak transcription Strong transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs189798943	chr14:39624012-39624013	Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs182448754	chr14:39624015-39624016	Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs75350243	chr14:39624023-39624024	Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs549721319	chr14:39624036-39624037	Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs114271949	chr14:39624063-39624064	Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs187144836	chr14:39624088-39624089	Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs551782712	chr14:39624109-39624110	Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs151294904	chr14:39624123-39624124	Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs114973939	chr14:39624136-39624137	Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs534070420	chr14:39624174-39624175	Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs35530211	chr14:39624227-39624228	Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs374917368	chr14:39624267-39624268	Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs547151329	chr14:39624277-39624278	Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs567130571	chr14:39624287-39624288	Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs115848066	chr14:39624293-39624294	Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs76819304	chr14:39624295-39624296	Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs556197040	chr14:39624305-39624306	Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs369252185	chr14:39624317-39624318	Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs554574863	chr14:39624322-39624323	Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs28666016	chr14:39624323-39624324	Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs538233486	chr14:39624333-39624334	Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs147547799	chr14:39624334-39624335	Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs572036245	chr14:39624358-39624359	Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs148080871	chr14:39624381-39624382	Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs574163916	chr14:39624414-39624415	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs539695505	chr14:39624431-39624432	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs562243574	chr14:39624435-39624436	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs574300896	chr14:39624439-39624440	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs543277973	chr14:39624459-39624460	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs558036173	chr14:39624469-39624470	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs573321257	chr14:39624503-39624504	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs376372340	chr14:39624509-39624510	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs190453613	chr14:39624519-39624520	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs555556101	chr14:39624594-39624595	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs574111254	chr14:39624595-39624596	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs141857588	chr14:39624602-39624603	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39583800-39626000	Weak transcription	Spleen	Spleen
2	chr14:39584000-39623600	Weak transcription	Esophagus	oesophagus
3	chr14:39584200-39636000	Weak transcription	Small Intestine	intestine
4	chr14:39584200-39638600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:39584400-39626600	Weak transcription	Aorta	Aorta
6	chr14:39584600-39625800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:39588600-39635400	Weak transcription	Fetal Brain Male	brain
8	chr14:39589200-39626400	Weak transcription	Fetal Heart	heart
9	chr14:39592800-39626600	Weak transcription	NHLF	lung
10	chr14:39598800-39636200	Weak transcription	Stomach Mucosa	stomach
11	chr14:39604400-39635400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr14:39605800-39625200	Weak transcription	HSMMtube	muscle
13	chr14:39607000-39625400	Weak transcription	Fetal Kidney	kidney
14	chr14:39607200-39623800	Weak transcription	Ovary	ovary
15	chr14:39608200-39630600	Weak transcription	NHEK	skin
16	chr14:39611000-39637600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr14:39611200-39638800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:39611400-39638000	Weak transcription	A549	lung
19	chr14:39612000-39631600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr14:39612400-39625400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:39612800-39637800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:39614200-39628200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:39614400-39636800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr14:39614800-39636800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:39615200-39626400	Weak transcription	Pancreas	Pancrea
26	chr14:39615200-39627600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:39615800-39627000	Strong transcription	Duodenum Mucosa	Duodenum
28	chr14:39616200-39627200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:39616200-39627600	Strong transcription	HepG2	liver
30	chr14:39616200-39632200	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr14:39616200-39632200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:39616200-39632600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:39616200-39637000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:39616400-39627000	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:39616600-39624200	Strong transcription	Fetal Lung	lung
36	chr14:39616800-39623800	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr14:39616800-39629600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:39616800-39629600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:39616800-39632200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr14:39616800-39636400	Strong transcription	Fetal Muscle Trunk	muscle
41	chr14:39617000-39624400	Strong transcription	HUVEC	blood vessel
42	chr14:39617000-39628000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr14:39617000-39632400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr14:39617000-39634800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:39617000-39636200	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr14:39617200-39624200	Strong transcription	Placenta	Placenta
47	chr14:39617200-39624200	Strong transcription	Dnd41	blood
48	chr14:39617200-39624400	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr14:39617200-39627000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr14:39617200-39627000	Strong transcription	Fetal Brain Female	brain

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