Variant report

Variant	nsv977461
Chromosome Location	chr14:39762414-39770640
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:39644738..39647124-chr14:39769645..39772473,2	MCF-7	breast:
2	chr14:39653217..39654997-chr14:39768154..39769847,2	K562	blood:
3	chr14:39763084..39765244-chr14:39767699..39769276,2	MCF-7	breast:
4	chr14:39769729..39772200-chr14:39779673..39781818,3	MCF-7	breast:
5	chr14:39637549..39640263-chr14:39768820..39771005,2	MCF-7	breast:
6	chr14:39636723..39639312-chr14:39766672..39768267,2	MCF-7	breast:
7	chr14:39763084..39765244-chr14:39767699..39769276,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182400	chromatin interactions
ENSG00000259083	chromatin interactions

Extended variants
information (count: 414 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75783287	chr14:39762427-39762428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373782915	chr14:39762429-39762430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376927713	chr14:39762441-39762442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371233297	chr14:39762443-39762444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533865586	chr14:39762461-39762462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191701350	chr14:39762468-39762469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375487092	chr14:39762495-39762496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567277819	chr14:39762536-39762537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369726723	chr14:39762547-39762548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536341881	chr14:39762574-39762575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73277460	chr14:39762575-39762576	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs184293867	chr14:39762612-39762613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544758892	chr14:39762627-39762628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558093586	chr14:39762632-39762633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs578164342	chr14:39762648-39762649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563260826	chr14:39762677-39762678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114538941	chr14:39762700-39762701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377381170	chr14:39762741-39762742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542688714	chr14:39762750-39762751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562676251	chr14:39762791-39762792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531727923	chr14:39762796-39762797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116462495	chr14:39762838-39762839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187491180	chr14:39762856-39762857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192338709	chr14:39762873-39762874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547754019	chr14:39762893-39762894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567265838	chr14:39762976-39762977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557187512	chr14:39762982-39762983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116909613	chr14:39762993-39762994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs956109	chr14:39763006-39763007	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs374596586	chr14:39763014-39763015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73277462	chr14:39763029-39763030	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs558292730	chr14:39763031-39763032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530219284	chr14:39763043-39763044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs956108	chr14:39763111-39763112	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs185187854	chr14:39763120-39763121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554073756	chr14:39763130-39763131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373133194	chr14:39763172-39763173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573679962	chr14:39763178-39763179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200411689	chr14:39763201-39763202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139644527	chr14:39763208-39763209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141828907	chr14:39763224-39763225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375985009	chr14:39763239-39763240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199571113	chr14:39763257-39763258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369108063	chr14:39763283-39763284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375106021	chr14:39763289-39763290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576432193	chr14:39763315-39763316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541335424	chr14:39763318-39763319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545180379	chr14:39763328-39763329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565080586	chr14:39763378-39763379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527538609	chr14:39763381-39763382	Weak transcription Strong transcription	n/a	n/a	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:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39737800-39763800	Weak transcription	Gastric	stomach
2	chr14:39738000-39763800	Weak transcription	HSMM	muscle
3	chr14:39738200-39763800	Weak transcription	Brain Angular Gyrus	brain
4	chr14:39738200-39763800	Weak transcription	HSMMtube	muscle
5	chr14:39738200-39766200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:39738200-39813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:39738600-39763800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr14:39738800-39764800	Weak transcription	NHDF-Ad	bronchial
9	chr14:39739200-39764000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr14:39739800-39763400	Weak transcription	Lung	lung
11	chr14:39739800-39766400	Weak transcription	Aorta	Aorta
12	chr14:39741200-39764200	Weak transcription	Spleen	Spleen
13	chr14:39742000-39763400	Weak transcription	Esophagus	oesophagus
14	chr14:39744600-39769800	Weak transcription	Pancreas	Pancrea
15	chr14:39745400-39764000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:39745600-39764000	Weak transcription	HMEC	breast
17	chr14:39746200-39776600	Weak transcription	K562	blood
18	chr14:39746400-39771200	Weak transcription	Fetal Heart	heart
19	chr14:39747200-39763800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr14:39747800-39763600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:39749400-39763400	Weak transcription	Left Ventricle	heart
22	chr14:39749400-39763800	Weak transcription	Small Intestine	intestine
23	chr14:39749400-39764000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr14:39749400-39764200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr14:39749400-39766400	Weak transcription	Right Ventricle	heart
26	chr14:39749400-39785400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr14:39749600-39763400	Weak transcription	Placenta	Placenta
28	chr14:39749600-39763800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr14:39749600-39763800	Weak transcription	Brain Substantia Nigra	brain
30	chr14:39749600-39765200	Weak transcription	HUVEC	blood vessel
31	chr14:39749600-39771200	Weak transcription	Fetal Kidney	kidney
32	chr14:39752200-39763800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr14:39752400-39763200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr14:39752400-39763600	Weak transcription	GM12878-XiMat	blood
35	chr14:39752400-39763800	Weak transcription	Brain Anterior Caudate	brain
36	chr14:39752600-39763800	Weak transcription	Fetal Lung	lung
37	chr14:39752600-39764200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr14:39752600-39764200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr14:39752600-39769000	Weak transcription	Colon Smooth Muscle	Colon
40	chr14:39752600-39808200	Weak transcription	Stomach Mucosa	stomach
41	chr14:39753000-39764200	Weak transcription	A549	lung
42	chr14:39755400-39775800	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr14:39755400-39783400	Strong transcription	Liver	Liver
44	chr14:39755600-39767600	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr14:39755600-39780400	Strong transcription	HepG2	liver
46	chr14:39755600-39797200	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr14:39756000-39763600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr14:39756000-39764000	Weak transcription	Brain Hippocampus Middle	brain
49	chr14:39756000-39764600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:39756000-39788600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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