Variant report

Variant	nsv976368
Chromosome Location	chr14:97000465-97001244
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	NRF1	chr14:97000701-97000709	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr14:97000206-97003137	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:97000683-97000979	GM12892	blood:	n/a	n/a
4	POLR2A	chr14:97000223-97007178	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:96992168..96995386-chr14:96999762..97002036,3	MCF-7	breast:
2	chr14:96998656..97003736-chr14:97006318..97010679,5	MCF-7	breast:

Variant related genes	Relation type
PAPOLA	TF binding region
ENSG00000090060	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75845012	chr14:97000479-97000480	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs535770288	chr14:97000503-97000504	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs186058094	chr14:97000600-97000601	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs148393033	chr14:97000641-97000642	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs539392282	chr14:97000663-97000664	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs200540826	chr14:97000684-97000685	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs557336352	chr14:97000686-97000687	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs575693633	chr14:97000722-97000723	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs5015253	chr14:97000726-97000727	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs372344806	chr14:97000773-97000774	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs372052552	chr14:97000779-97000780	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs376946348	chr14:97000821-97000822	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs139731331	chr14:97000888-97000889	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs144160815	chr14:97000926-97000927	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs573525056	chr14:97000941-97000942	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs369642649	chr14:97000945-97000946	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs200980234	chr14:97000947-97000948	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs558544265	chr14:97000965-97000966	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs559562789	chr14:97001010-97001011	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs533096947	chr14:97001020-97001021	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs546130680	chr14:97001057-97001058	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs60248045	chr14:97001076-97001077	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs531832689	chr14:97001123-97001124	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs575269320	chr14:97001161-97001162	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs568654592	chr14:97001164-97001165	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Glioblastoma	21080181	CNVD
Cancer	20164920	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Breast cancer	21509527	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	17426248	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:96978000-97019400	Weak transcription	Aorta	Aorta
2	chr14:96979600-97022400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:96979800-97019200	Weak transcription	Small Intestine	intestine
4	chr14:96980800-97020600	Weak transcription	Stomach Mucosa	stomach
5	chr14:96982000-97031400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:96984800-97020800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:96984800-97039400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:96985800-97004800	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:96985800-97005200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:96986000-97003800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr14:96986000-97004800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr14:96986200-97004400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:96986200-97005600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr14:96986400-97002800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr14:96986400-97002800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr14:96986400-97002800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:96986400-97003000	Strong transcription	Duodenum Mucosa	Duodenum
18	chr14:96986400-97005400	Strong transcription	Placenta	Placenta
19	chr14:96986400-97007200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr14:96986600-97001200	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr14:96986600-97003800	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr14:96986600-97005200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:96986600-97006200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:96986800-97003800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:96986800-97006800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr14:96987000-97002400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:96987000-97002600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr14:96987000-97003000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr14:96987200-97002800	Strong transcription	Primary B cells from cord blood	blood
30	chr14:96987200-97003800	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr14:96987200-97004000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:96987200-97004400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:96987200-97004400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:96987200-97010200	Weak transcription	HSMMtube	muscle
35	chr14:96987400-97001400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr14:96987400-97001400	Strong transcription	Osteobl	bone
37	chr14:96987400-97003000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr14:96987400-97003800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr14:96987800-97003800	Strong transcription	Dnd41	blood
40	chr14:96988200-97012600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:96989000-97018800	Weak transcription	Lung	lung
42	chr14:96989200-97018600	Weak transcription	Brain Substantia Nigra	brain
43	chr14:96991000-97004000	Strong transcription	Fetal Intestine Large	intestine
44	chr14:96991400-97022400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr14:96992200-97011600	Weak transcription	NHLF	lung
46	chr14:96993000-97018800	Weak transcription	Gastric	stomach
47	chr14:96993000-97018800	Weak transcription	Pancreas	Pancrea
48	chr14:96993000-97018800	Weak transcription	Spleen	Spleen
49	chr14:96993200-97012400	Weak transcription	Right Ventricle	heart
50	chr14:96993200-97018800	Weak transcription	Esophagus	oesophagus

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