Variant report

Variant	nsv974465
Chromosome Location	chr14:55282030-55287312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55285226..55285728-chr9:135230026..135230604,2	MCF-7	breast:
2	chr14:55285434..55287072-chr14:55368100..55371088,2	MCF-7	breast:
3	chr14:55232734..55234959-chr14:55282570..55284583,2	K562	blood:
4	chr14:55285206..55286227-chr9:135230196..135230918,3	HCT-116	colon:
5	chr14:55270899..55272684-chr14:55285548..55287241,2	MCF-7	breast:
6	chr14:55285207..55285727-chr9:135230113..135230803,3	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000131979	chromatin interactions
ENSG00000107290	chromatin interactions

Extended variants
information (count: 176 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:176 , 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	rs186171412	chr14:55282065-55282066	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs531240764	chr14:55282071-55282072	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs190640364	chr14:55282118-55282119	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs571497234	chr14:55282143-55282144	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs60716514	chr14:55282154-55282155	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs182768561	chr14:55282185-55282186	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs565852046	chr14:55282193-55282194	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs536430889	chr14:55282236-55282237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34170330	chr14:55282289-55282290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555136491	chr14:55282316-55282317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17127982	chr14:55282389-55282390	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs543500707	chr14:55282392-55282393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558867942	chr14:55282393-55282394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577475192	chr14:55282463-55282464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541674550	chr14:55282472-55282473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530443242	chr14:55282478-55282479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559541333	chr14:55282483-55282484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34001011	chr14:55282537-55282538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369567850	chr14:55282625-55282626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530257033	chr14:55282649-55282650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542002329	chr14:55282653-55282654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553874977	chr14:55282658-55282659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560689559	chr14:55282664-55282665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531431685	chr14:55282695-55282696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs118081739	chr14:55282728-55282729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543735989	chr14:55282737-55282738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571188973	chr14:55282789-55282790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76756114	chr14:55282913-55282914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567227929	chr14:55282944-55282945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187097702	chr14:55282968-55282969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78600326	chr14:55282997-55282998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192543446	chr14:55283027-55283028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533425277	chr14:55283028-55283029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35122194	chr14:55283031-55283032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78216427	chr14:55283032-55283033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75427720	chr14:55283041-55283042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149468777	chr14:55283048-55283049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576958142	chr14:55283065-55283066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202061471	chr14:55283070-55283071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199909719	chr14:55283090-55283091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77850608	chr14:55283091-55283092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75958304	chr14:55283104-55283105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373842867	chr14:55283109-55283110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536492920	chr14:55283128-55283129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145546294	chr14:55283136-55283137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570058570	chr14:55283146-55283147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537514730	chr14:55283151-55283152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558692758	chr14:55283157-55283158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61227912	chr14:55283170-55283171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541003650	chr14:55283189-55283190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16397240	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55280800-55282200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr14:55281000-55282200	Enhancers	HSMM	muscle
3	chr14:55281200-55282400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:55281200-55284600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:55281400-55282200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:55281400-55282200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr14:55281800-55284800	Weak transcription	HSMMtube	muscle
8	chr14:55282000-55282200	Flanking Active TSS	Osteobl	bone
9	chr14:55282200-55285000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:55282200-55285000	Weak transcription	Osteobl	bone
11	chr14:55282200-55285200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr14:55282200-55285200	Weak transcription	HSMM	muscle
13	chr14:55282200-55285600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:55282400-55285000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:55282600-55283000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr14:55283000-55284200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:55283400-55283600	Enhancers	Fetal Intestine Large	intestine
18	chr14:55283600-55284600	Weak transcription	Fetal Intestine Large	intestine
19	chr14:55284000-55284600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:55284000-55285200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:55284000-55285400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:55284000-55285400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:55284200-55284800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr14:55284200-55285000	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr14:55284200-55285200	Bivalent Enhancer	HepG2	liver
26	chr14:55284200-55286600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:55284600-55284800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr14:55284600-55285600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:55284600-55285800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:55284600-55286000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:55284600-55286000	Enhancers	Fetal Intestine Large	intestine
32	chr14:55284600-55286600	Enhancers	Fetal Intestine Small	intestine
33	chr14:55284800-55285000	Enhancers	Hela-S3	cervix
34	chr14:55284800-55285600	Enhancers	HSMMtube	muscle
35	chr14:55284800-55285800	Enhancers	Brain Germinal Matrix	brain
36	chr14:55285000-55285200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:55285000-55285400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr14:55285000-55285600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr14:55285000-55285800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:55285000-55285800	Flanking Active TSS	Osteobl	bone
41	chr14:55285000-55286000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:55285000-55286000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr14:55285000-55286000	Flanking Active TSS	Hela-S3	cervix
44	chr14:55285200-55285400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:55285200-55285600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:55285200-55285600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr14:55285200-55285600	Flanking Bivalent TSS/Enh	HepG2	liver
48	chr14:55285200-55285800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr14:55285200-55285800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr14:55285200-55285800	Active TSS	Stomach Smooth Muscle	stomach

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