Variant report

Variant	nsv564773
Chromosome Location	chr14:47697802-47717798
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:47706399..47708616-chr14:47715847..47717651,2	MCF-7	breast:
2	chr14:47699505..47700030-chr20:46283707..46284523,2	MCF-7	breast:
3	chr14:47706399..47708616-chr14:47715847..47717651,2	MCF-7	breast:

Extended variants
information (count: 423 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:423 , 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	rs11628718	chr14:47697802-47697803	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372150369	chr14:47697830-47697831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72680244	chr14:47697843-47697844	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs116450605	chr14:47697857-47697858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570234439	chr14:47697905-47697906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572767284	chr14:47697929-47697930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549717323	chr14:47697940-47697941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568036697	chr14:47697984-47697985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533774012	chr14:47698007-47698008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186372372	chr14:47698017-47698018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576912773	chr14:47698023-47698024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539253427	chr14:47698077-47698078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556349750	chr14:47698132-47698133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538882929	chr14:47698148-47698149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576242186	chr14:47698152-47698153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560529190	chr14:47698190-47698191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561667395	chr14:47698202-47698203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115921139	chr14:47698217-47698218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189383286	chr14:47698237-47698238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147928860	chr14:47698299-47698300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533496905	chr14:47698310-47698311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543641139	chr14:47698315-47698316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563873778	chr14:47698333-47698334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529488451	chr14:47698378-47698379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541781012	chr14:47698440-47698441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114028505	chr14:47698488-47698489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369158608	chr14:47698521-47698522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs180938057	chr14:47698588-47698589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566385425	chr14:47698632-47698633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186414890	chr14:47698708-47698709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547464057	chr14:47698803-47698804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570430651	chr14:47698842-47698843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs56159600	chr14:47698844-47698845	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs556000541	chr14:47698922-47698923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569804340	chr14:47698924-47698925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530411272	chr14:47698936-47698937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535269982	chr14:47698986-47698987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs117877144	chr14:47699015-47699016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191205451	chr14:47699023-47699024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182893163	chr14:47699129-47699130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558167948	chr14:47699142-47699143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577973381	chr14:47699181-47699182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564123504	chr14:47699241-47699242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377060489	chr14:47699254-47699255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80022188	chr14:47699271-47699272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375391343	chr14:47699344-47699345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186061279	chr14:47699401-47699402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536890989	chr14:47699407-47699408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529448944	chr14:47699420-47699421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543285838	chr14:47699439-47699440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Schizophrenia	20967226	CNVD
Gastric cancer	18160780	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47695200-47699200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:47695600-47698000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr14:47696600-47699400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:47696800-47699200	Enhancers	Primary hematopoietic stem cells	blood
5	chr14:47696800-47699400	Enhancers	HUVEC	blood vessel
6	chr14:47697000-47699200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:47697200-47698600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr14:47699200-47701600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:47699200-47703600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:47699400-47703000	Weak transcription	HUVEC	blood vessel
11	chr14:47699400-47703600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:47701600-47701800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:47703000-47703600	Enhancers	HUVEC	blood vessel
14	chr14:47703600-47704000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:47703600-47704000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:47703600-47704000	Flanking Active TSS	HUVEC	blood vessel
17	chr14:47704000-47705600	Enhancers	HUVEC	blood vessel
18	chr14:47710200-47710600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr14:47710200-47710600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:47710200-47710600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr14:47710200-47710600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:47710600-47713600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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