Variant report

Variant	nsv1046083
Chromosome Location	chr14:47073750-47110060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1202 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1202 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373212538	chr14:47073770-47073771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574479375	chr14:47073797-47073798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552913173	chr14:47073824-47073825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs8003496	chr14:47073825-47073826	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs571584286	chr14:47073842-47073843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527335048	chr14:47073881-47073882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185414630	chr14:47073883-47073884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189883485	chr14:47073888-47073889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139652616	chr14:47073964-47073965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144320872	chr14:47073984-47073985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569302168	chr14:47073994-47073995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536759980	chr14:47073995-47073996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146568077	chr14:47074003-47074004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566966803	chr14:47074006-47074007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534211700	chr14:47074009-47074010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558958478	chr14:47074046-47074047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140070345	chr14:47074100-47074101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61991152	chr14:47074110-47074111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs566271748	chr14:47074174-47074175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371259825	chr14:47074178-47074179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574588430	chr14:47074213-47074214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375304408	chr14:47074262-47074263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553480901	chr14:47074287-47074288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182198395	chr14:47074327-47074328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367893996	chr14:47074353-47074354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186474422	chr14:47074518-47074519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529183628	chr14:47074520-47074521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76498964	chr14:47074526-47074527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28495536	chr14:47074527-47074528	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs563186058	chr14:47074528-47074529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554556107	chr14:47074589-47074590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34185998	chr14:47074633-47074634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11845226	chr14:47074675-47074676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183918750	chr14:47074709-47074710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377037130	chr14:47074712-47074713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145708539	chr14:47074717-47074718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527759557	chr14:47074721-47074722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368804747	chr14:47074759-47074760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112112521	chr14:47074771-47074772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75168940	chr14:47074822-47074823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77942821	chr14:47074851-47074852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78753564	chr14:47074854-47074855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71448121	chr14:47074890-47074891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72674759	chr14:47074920-47074921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570716739	chr14:47074921-47074922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149123074	chr14:47074929-47074930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61991153	chr14:47074986-47074987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556233713	chr14:47075008-47075009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188487530	chr14:47075077-47075078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535326329	chr14:47075123-47075124	Weak 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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	19907438	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47065000-47084000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr14:47066400-47090000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr14:47094800-47096200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr14:47094800-47096200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr14:47095400-47096200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr14:47095400-47096200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr14:47095400-47096400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:47095600-47096400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr14:47095600-47096400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr14:47095600-47096400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:47095600-47096400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr14:47095800-47096200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr14:47095800-47096200	Enhancers	Brain Germinal Matrix	brain
14	chr14:47095800-47096600	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr14:47096000-47096400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr14:47096000-47096400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:47096000-47096400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr14:47096400-47100000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr14:47096600-47108800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr14:47099400-47100000	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr14:47099400-47100200	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr14:47099600-47099800	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr14:47099600-47100000	Active TSS	Colonic Mucosa	Colon
24	chr14:47099600-47100200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr14:47099800-47100000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
26	chr14:47100000-47100200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr14:47100200-47100400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr14:47100200-47106400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr14:47100400-47106400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr14:47106200-47106600	ZNF genes & repeats	Fetal Intestine Small	intestine
31	chr14:47106400-47107800	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr14:47106400-47108400	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr14:47106600-47107200	Strong transcription	Fetal Intestine Small	intestine
34	chr14:47107200-47116000	Weak transcription	Fetal Intestine Small	intestine
35	chr14:47107800-47111200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr14:47108400-47119400	Weak transcription	Rectal Mucosa Donor 31	rectum

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