Variant report

Variant	nsv564743
Chromosome Location	chr14:46784593-46921265
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:5)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:46878574..46881068-chr14:46881642..46884417,2	K562	blood:
2	chr14:46878574..46881068-chr14:46881642..46884417,2	K562	blood:
3	chr14:46718996..46719973-chr14:46813315..46814211,4	MCF-7	breast:
4	chr14:46719211..46719811-chr14:46813566..46814094,2	MCF-7	breast:
5	chr14:46517075..46517958-chr14:46813262..46814074,4	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FANCM-6	chr14:46915388-46915429	ENSG00000258700
2	lnc-FANCM-6	chr14:46907384-46907453	ENSG00000258700
3	lnc-FANCM-6	chr14:46788016-46788064	ENSG00000258700
4	lnc-FANCM-6	chr14:46916512-46916578	ENSG00000258700
5	lnc-FANCM-6	chr14:46907384-46907453	NONHSAT036678
6	lnc-FANCM-6	chr14:46919111-46919157	ENSG00000258700
7	lnc-FANCM-6	chr14:46919111-46919157	NONHSAT036678

No data

Extended variants
information (count: 2302 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:2302 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145187880	chr14:46784865-46784866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76470894	chr14:46784871-46784872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540979730	chr14:46784889-46784890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368173405	chr14:46784890-46784891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs386777129	chr14:46784897-46784898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114869045	chr14:46784936-46784937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560978324	chr14:46784956-46784957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564826873	chr14:46785134-46785135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2415951	chr14:46785207-46785208	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs550398542	chr14:46785217-46785218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561995888	chr14:46785231-46785232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181882734	chr14:46785232-46785233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72670510	chr14:46785268-46785269	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs375116284	chr14:46785272-46785273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530409705	chr14:46785309-46785310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565758354	chr14:46785328-46785329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539476879	chr14:46785331-46785332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544222024	chr14:46785350-46785351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569975510	chr14:46785375-46785376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536848926	chr14:46785386-46785387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186272694	chr14:46785390-46785391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113782553	chr14:46785392-46785393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567328529	chr14:46785399-46785400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140682421	chr14:46785415-46785416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555034920	chr14:46785423-46785424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552973104	chr14:46785427-46785428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189029455	chr14:46785437-46785438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77509301	chr14:46785471-46785472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560815935	chr14:46785496-46785497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576678929	chr14:46785598-46785599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372238919	chr14:46785610-46785611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs36075808	chr14:46785658-46785659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111562466	chr14:46785688-46785689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73248546	chr14:46785691-46785692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs561963503	chr14:46785711-46785712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529322084	chr14:46785749-46785750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376166182	chr14:46785750-46785751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559455590	chr14:46785807-46785808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368479872	chr14:46785811-46785812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551801173	chr14:46785849-46785850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569803134	chr14:46785864-46785865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534968850	chr14:46785865-46785866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368266806	chr14:46785880-46785881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548869785	chr14:46785887-46785888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181633421	chr14:46785896-46785897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186358547	chr14:46785904-46785905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557579516	chr14:46785914-46785915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534839058	chr14:46785916-46785917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71418105	chr14:46785946-46785947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191302617	chr14:46785962-46785963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46784800-46785600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr14:46784800-46785600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:46785600-46790400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:46785600-46790600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:46788200-46788600	Active TSS	Left Ventricle	heart
6	chr14:46790400-46790600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr14:46790400-46790800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
8	chr14:46790400-46791000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr14:46790400-46792400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:46790400-46792600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:46790400-46792800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
12	chr14:46790400-46795200	Enhancers	Primary hematopoietic stem cells	blood
13	chr14:46790600-46795400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:46790800-46791000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
15	chr14:46790800-46791000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
16	chr14:46790800-46791200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:46790800-46791600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
18	chr14:46790800-46792000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr14:46790800-46792800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
20	chr14:46791000-46791200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
21	chr14:46791000-46791400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
22	chr14:46791000-46791400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr14:46791000-46791600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr14:46791200-46791600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:46791200-46791600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr14:46791200-46791800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:46791200-46792000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:46791200-46792400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:46791200-46792800	Enhancers	Fetal Kidney	kidney
30	chr14:46791400-46791600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
31	chr14:46791400-46791800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr14:46791600-46791800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
33	chr14:46791600-46791800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
34	chr14:46791600-46792000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
35	chr14:46791600-46792200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:46791600-46792200	Enhancers	HUVEC	blood vessel
37	chr14:46791600-46792400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
38	chr14:46791600-46792800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr14:46791800-46792000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr14:46791800-46792600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
41	chr14:46791800-46792600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
42	chr14:46791800-46792800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
43	chr14:46792000-46792200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
44	chr14:46792000-46792200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
45	chr14:46792000-46792800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
46	chr14:46792000-46792800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
47	chr14:46792000-46792800	Enhancers	Fetal Lung	lung
48	chr14:46792000-46792800	Enhancers	Fetal Stomach	stomach
49	chr14:46792000-46792800	Enhancers	Ovary	ovary
50	chr14:46792000-46793400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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