Variant report

Variant	nsv564739
Chromosome Location	chr14:46672635-46759568
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:46718996..46719973-chr14:46813315..46814211,4	MCF-7	breast:
2	chr14:46737193..46737995-chr4:28770057..28770960,2	MCF-7	breast:
3	chr14:46719211..46719811-chr14:46813566..46814094,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FANCM-6	chr14:46680950-46681007	NONHSAT036679
2	lnc-FANCM-6	chr14:46680950-46681007	ENSG00000258700
3	lnc-FANCM-6	chr14:46680027-46680142	ENSG00000258700
4	lnc-FANCM-6	chr14:46680027-46680142	NONHSAT036678
5	lnc-FANCM-6	chr14:46680950-46681007	NONHSAT036678
6	lnc-FANCM-6	chr14:46680950-46681007	ENSG00000258700
7	lnc-FANCM-6	chr14:46680027-46680142	ENSG00000258700
8	lnc-FANCM-6	chr14:46680027-46680142	NONHSAT036679

No data

Extended variants
information (count: 1323 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1323 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185457420	chr14:46674023-46674024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs367880472	chr14:46674028-46674029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543522941	chr14:46674030-46674031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562229014	chr14:46674117-46674118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116478187	chr14:46674133-46674134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547391282	chr14:46674140-46674141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559368193	chr14:46674146-46674147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533051616	chr14:46674197-46674198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs858904	chr14:46674244-46674245	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs78371075	chr14:46674280-46674281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114688837	chr14:46674285-46674286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75606930	chr14:46674303-46674304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567354776	chr14:46674335-46674336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111600447	chr14:46674338-46674339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76710750	chr14:46674369-46674370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189872449	chr14:46674378-46674379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577747764	chr14:46674416-46674417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540114391	chr14:46674440-46674441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs858905	chr14:46674451-46674452	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs71112426	chr14:46674464-46674465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368953811	chr14:46674479-46674480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139103263	chr14:46674484-46674485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2149660	chr14:46674485-46674486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2149661	chr14:46674496-46674497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs8016063	chr14:46674512-46674513	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs544005370	chr14:46674562-46674563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561995491	chr14:46674572-46674573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574076725	chr14:46674620-46674621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541171403	chr14:46674660-46674661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182230269	chr14:46674665-46674666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533185886	chr14:46674674-46674675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554734891	chr14:46674675-46674676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551235990	chr14:46674705-46674706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532952141	chr14:46674706-46674707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs861456	chr14:46674710-46674711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530571548	chr14:46674711-46674712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113738153	chr14:46674722-46674723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567386748	chr14:46674729-46674730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528178842	chr14:46674733-46674734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543393467	chr14:46674738-46674739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566556682	chr14:46674743-46674744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187688456	chr14:46674793-46674794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573795671	chr14:46680035-46680036	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs575860691	chr14:46680040-46680041	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs553318786	chr14:46680072-46680073	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs79825282	chr14:46680087-46680088	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs73238495	chr14:46680088-46680089	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs186218861	chr14:46680100-46680101	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs575347827	chr14:46680111-46680112	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs35219503	chr14:46680112-46680113	Inactive region	lncRNA	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	chr14:46674000-46674800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr14:46674400-46674800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:46703000-46704200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:46703200-46704200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:46711600-46712600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr14:46714800-46715000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:46714800-46715200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:46715000-46718000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:46716400-46717000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr14:46716600-46717000	Enhancers	Colon Smooth Muscle	Colon
11	chr14:46717200-46718400	Enhancers	Fetal Heart	heart
12	chr14:46717800-46718000	Enhancers	Fetal Brain Female	brain
13	chr14:46719400-46721200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:46719600-46720000	Enhancers	Fetal Brain Female	brain
15	chr14:46720200-46721200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:46725000-46725600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:46725200-46725600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:46725200-46725600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:46725600-46725800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:46725600-46726000	Enhancers	Primary hematopoietic stem cells	blood
21	chr14:46725600-46726000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:46725600-46726000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:46725800-46740400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr14:46728800-46729000	Enhancers	Fetal Kidney	kidney
25	chr14:46728800-46729200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:46729800-46730200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:46729800-46730400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:46730400-46730800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:46730400-46731600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:46731600-46733000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:46740400-46740600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr14:46740600-46748200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:46748200-46749600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:46748400-46749200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr14:46748800-46749200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr14:46749400-46749800	Enhancers	HUES6 Cell Line	embryonic stem cell

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