Variant report

Variant	nsv977455
Chromosome Location	chr14:35703788-35705514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:35704458-35704589	HepG2	liver:	n/a	chr14:35704481-35704492
2	CTCF	chr14:35704578-35704643	GM13976	blood:	n/a	n/a
3	STAT3	chr14:35703242-35703876	MCF10A-Er-Src	breast:	n/a	chr14:35703431-35703439

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35702282..35704520-chr14:35800753..35803790,5	MCF-7	breast:
2	chr14:35698822..35700476-chr14:35705196..35707061,2	MCF-7	breast:
3	chr14:35701570..35704183-chr14:35804617..35807506,4	MCF-7	breast:
4	chr14:35688349..35704994-chr14:35861790..35878218,62	MCF-7	breast:
5	chr14:35694745..35697043-chr14:35701937..35704486,2	MCF-7	breast:
6	chr14:35701633..35705447-chr14:35760005..35763215,4	MCF-7	breast:
7	chr14:35695193..35706000-chr14:35866255..35879159,42	MCF-7	breast:
8	chr14:35705470..35707557-chr14:35709197..35711039,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP2R3C-4	chr14:35704706-35704801	l_962_chr14:35668508-35676460_thyroid
2	lnc-PPP2R3C-4	chr14:35704820-35705215	l_962_chr14:35668508-35676460_thyroid
3	lnc-RP11-173D9.3.1-3	chr14:35704702-35704801	l_963_chr14:35700899-35775195_brain
4	lnc-PPP2R3C-4	chr14:35704130-35704256	l_962_chr14:35668508-35676460_thyroid
5	lnc-RP11-173D9.3.1-3	chr14:35704074-35704252	l_963_chr14:35700899-35775195_brain

No data

Variant related genes	Relation type
RPL7AP3	TF binding region
ENSG00000265530	chromatin interactions
ENSG00000100902	chromatin interactions
ENSG00000100906	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370220185	chr14:35703827-35703828	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs149388511	chr14:35703830-35703831	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs17103120	chr14:35703839-35703840	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs574735731	chr14:35703855-35703856	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs377202613	chr14:35703860-35703861	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs533347945	chr14:35703863-35703864	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs532064563	chr14:35703883-35703884	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs376143290	chr14:35703894-35703895	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs561893479	chr14:35703896-35703897	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs398056986	chr14:35703900-35703901	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs572127728	chr14:35703935-35703936	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs113472481	chr14:35703944-35703945	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs117981306	chr14:35703995-35703996	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs529494027	chr14:35704025-35704026	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs565745004	chr14:35704061-35704062	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs112265616	chr14:35704125-35704126	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs185975220	chr14:35704161-35704162	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs370852449	chr14:35704165-35704166	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs17103121	chr14:35704286-35704287	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs7146853	chr14:35704317-35704318	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs531957229	chr14:35704386-35704387	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs373894710	chr14:35704425-35704426	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs192020016	chr14:35704442-35704443	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs58881498	chr14:35704457-35704458	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs556617665	chr14:35704471-35704472	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs570150607	chr14:35704480-35704481	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs183095404	chr14:35704481-35704482	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs187392968	chr14:35704510-35704511	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs573010513	chr14:35704519-35704520	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs542096624	chr14:35704554-35704555	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs12147110	chr14:35704555-35704556	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs575488002	chr14:35704556-35704557	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs544751071	chr14:35704655-35704656	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs564537355	chr14:35704657-35704658	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs61735755	chr14:35704664-35704665	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs17113838	chr14:35704667-35704668	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs540215526	chr14:35704681-35704682	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs144665498	chr14:35704734-35704735	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs529600551	chr14:35704764-35704765	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs536304040	chr14:35704770-35704771	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs148516429	chr14:35704805-35704806	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs374538021	chr14:35704841-35704842	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs562771455	chr14:35704894-35704895	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs368787322	chr14:35704896-35704897	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs531776025	chr14:35704911-35704912	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs547982252	chr14:35704931-35704932	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs12888173	chr14:35704964-35704965	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs570187881	chr14:35704968-35704969	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs112240156	chr14:35704980-35704981	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs539424569	chr14:35704987-35704988	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Acute lymphoblastic leukemia	20067559	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
Esophageal cancer	20955586	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
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21858162	CNVD
Lung cancer	21569311	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Lung adenocarcinoma	17982442	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35643400-35724000	Weak transcription	Left Ventricle	heart
2	chr14:35650800-35707800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:35661000-35736400	Weak transcription	Fetal Intestine Small	intestine
4	chr14:35672000-35742200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr14:35674400-35711200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr14:35674800-35737000	Weak transcription	Lung	lung
7	chr14:35678000-35719600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr14:35680800-35729800	Weak transcription	Primary B cells from cord blood	blood
9	chr14:35681000-35729800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr14:35684000-35706800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:35684600-35737000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr14:35684600-35760800	Weak transcription	HSMM	muscle
13	chr14:35686800-35735800	Weak transcription	Fetal Intestine Large	intestine
14	chr14:35687400-35716400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr14:35690200-35730000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:35690600-35735800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:35691200-35735800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:35693800-35717000	Weak transcription	HSMMtube	muscle
19	chr14:35694600-35726800	Weak transcription	K562	blood
20	chr14:35698600-35704200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:35699000-35703800	Enhancers	Primary hematopoietic stem cells	blood
22	chr14:35699000-35704000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:35699000-35704200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr14:35699200-35717200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr14:35699800-35735800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr14:35700200-35729600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr14:35700200-35738000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr14:35700400-35712400	Weak transcription	GM12878-XiMat	blood
29	chr14:35700400-35716600	Weak transcription	Fetal Thymus	thymus
30	chr14:35700400-35717400	Weak transcription	Thymus	Thymus
31	chr14:35700400-35729600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr14:35700400-35735800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr14:35700600-35704200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr14:35700600-35729200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr14:35700800-35703800	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr14:35700800-35709600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr14:35700800-35717400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr14:35701200-35704600	Weak transcription	Primary T cells from cord blood	blood
39	chr14:35702600-35703800	Enhancers	Dnd41	blood
40	chr14:35702800-35703800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:35702800-35708000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr14:35703000-35703800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:35703000-35703800	Enhancers	HMEC	breast
44	chr14:35703200-35703800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr14:35703200-35703800	Enhancers	NHDF-Ad	bronchial
46	chr14:35703400-35703800	Enhancers	NHEK	skin
47	chr14:35703400-35704000	Strong transcription	HepG2	liver
48	chr14:35703400-35729800	Weak transcription	Liver	Liver
49	chr14:35703800-35704200	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr14:35703800-35705200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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