Variant report

Variant	nsv564765
Chromosome Location	chr14:47480250-47521489
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:47050056..47050875-chr14:47509400..47510237,2	MCF-7	breast:

Extended variants
information (count: 380 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:380 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535085304	chr14:47486202-47486203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537002378	chr14:47486254-47486255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548983522	chr14:47486258-47486259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73241246	chr14:47486276-47486277	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs73241247	chr14:47486305-47486306	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536730964	chr14:47486368-47486369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553522215	chr14:47486376-47486377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573448476	chr14:47486378-47486379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545587732	chr14:47486388-47486389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73241250	chr14:47486430-47486431	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs577908820	chr14:47486450-47486451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74044410	chr14:47486482-47486483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575886150	chr14:47486505-47486506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544625414	chr14:47486522-47486523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs66861540	chr14:47492401-47492402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552065801	chr14:47492402-47492403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187918817	chr14:47492514-47492515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17117914	chr14:47492549-47492550	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs138464598	chr14:47494481-47494482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532682052	chr14:47494530-47494531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552351461	chr14:47494542-47494543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569135048	chr14:47494606-47494607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76131460	chr14:47494642-47494643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531455711	chr14:47494653-47494654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184169735	chr14:47494670-47494671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564879062	chr14:47494724-47494725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535870463	chr14:47494727-47494728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189497465	chr14:47494788-47494789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572839766	chr14:47494816-47494817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545155094	chr14:47494820-47494821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527329496	chr14:47494826-47494827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575528547	chr14:47494838-47494839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12882338	chr14:47494870-47494871	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs377759680	chr14:47494874-47494875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181111178	chr14:47494888-47494889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199818940	chr14:47494913-47494914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs397943752	chr14:47494927-47494928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185465646	chr14:47494949-47494950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190275014	chr14:47494978-47494979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531609449	chr14:47495005-47495006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560581778	chr14:47495040-47495041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532476924	chr14:47495041-47495042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143038942	chr14:47495054-47495055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562708835	chr14:47495110-47495111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531809677	chr14:47495120-47495121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548423795	chr14:47495122-47495123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369659748	chr14:47495136-47495137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111752546	chr14:47495156-47495157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1954250	chr14:47495162-47495163	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs201920493	chr14:47495190-47495191	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Osteosarcoma	21215367	CNVD
Gastric cancer	18160780	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47486200-47486600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:47492400-47492600	Enhancers	Liver	Liver
3	chr14:47494400-47494800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:47494400-47495000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr14:47495000-47495200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr14:47495200-47496800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:47503800-47504400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:47507800-47511200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:47508600-47508800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:47509000-47510000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:47509600-47510000	Enhancers	Fetal Kidney	kidney
12	chr14:47510000-47510200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr14:47510000-47510400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:47510200-47513000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:47512800-47513800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:47513000-47514200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr14:47513000-47514200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr14:47513000-47514600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr14:47513000-47514600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr14:47513600-47514400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr14:47513600-47514600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr14:47513800-47514400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr14:47513800-47514400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:47513800-47514400	Enhancers	Fetal Brain Male	brain
25	chr14:47513800-47514400	Enhancers	Fetal Lung	lung
26	chr14:47514000-47514400	Enhancers	Brain Anterior Caudate	brain
27	chr14:47514200-47514600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:47514200-47514600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr14:47514200-47514600	Enhancers	Cortex derived primary cultured neurospheres	brain

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