Variant report

Variant	nsv901793
Chromosome Location	chr14:44174784-44246488
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:43488710..43489609-chr14:44233482..44234148,2	MCF-7	breast:
2	chr14:44205144..44205757-chr14:44233413..44234104,2	MCF-7	breast:
3	chr14:44205547..44207356-chr14:44208208..44210904,2	MCF-7	breast:
4	chr14:44187135..44188917-chr14:44198793..44201549,2	MCF-7	breast:
5	chr14:44239001..44241420-chr14:44242693..44244717,2	MCF-7	breast:
6	chr14:44205547..44207356-chr14:44208208..44210904,2	MCF-7	breast:
7	chr14:44232880..44235724-chr14:44246843..44251121,4	MCF-7	breast:
8	chr14:44196286..44198757-chr14:44200759..44202310,2	MCF-7	breast:
9	chr14:44233523..44237242-chr14:44247325..44250220,3	MCF-7	breast:
10	chr14:44193372..44194920-chr14:44199439..44201142,2	MCF-7	breast:
11	chr14:44233069..44235944-chr14:44237070..44239771,2	MCF-7	breast:
12	chr14:44233069..44235944-chr14:44237070..44239771,2	MCF-7	breast:
13	chr14:44116704..44120924-chr14:44232095..44235982,5	MCF-7	breast:
14	chr14:44239001..44241420-chr14:44242693..44244717,2	MCF-7	breast:
15	chr14:44186082..44188263-chr14:44190147..44191676,2	MCF-7	breast:
16	chr14:44196286..44198757-chr14:44200759..44202310,2	MCF-7	breast:
17	chr14:44193372..44194920-chr14:44199439..44201142,2	MCF-7	breast:
18	chr14:44175429..44177063-chr14:44180133..44181778,2	MCF-7	breast:
19	chr14:44118745..44119255-chr14:44233596..44234189,2	MCF-7	breast:
20	chr14:44118120..44120400-chr14:44236517..44238455,2	MCF-7	breast:
21	chr14:44238143..44240331-chr14:44246690..44250097,3	MCF-7	breast:
22	chr14:44118326..44120848-chr14:44211222..44213029,2	MCF-7	breast:
23	chr14:44178956..44181575-chr14:44181768..44183737,3	K562	blood:
24	chr14:44175429..44177063-chr14:44180133..44181778,2	MCF-7	breast:
25	chr14:44086379..44089362-chr14:44231870..44234725,2	MCF-7	breast:
26	chr14:44205144..44205757-chr14:44233413..44234104,2	MCF-7	breast:
27	chr14:44218909..44219409-chr8:123758425..123759038,2	MCF-7	breast:
28	chr14:44118728..44122212-chr14:44202412..44204725,3	MCF-7	breast:
29	chr14:44187135..44188917-chr14:44198793..44201549,2	MCF-7	breast:
30	chr14:44232302..44233924-chr14:44251251..44254114,2	MCF-7	breast:
31	chr14:44186082..44188263-chr14:44190147..44191676,2	MCF-7	breast:
32	chr14:44178956..44181575-chr14:44181768..44183737,3	K562	blood:

No data

Extended variants
information (count: 852 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:852 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568784284	chr14:44176039-44176040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546383220	chr14:44176061-44176062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564956868	chr14:44176079-44176080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115741578	chr14:44176107-44176108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537766988	chr14:44176133-44176134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550137307	chr14:44176147-44176148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147070939	chr14:44176170-44176171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536537611	chr14:44176200-44176201	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs193087636	chr14:44176222-44176223	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs373892655	chr14:44176225-44176226	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs566955230	chr14:44176248-44176249	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs372084732	chr14:44176256-44176257	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs375480657	chr14:44176325-44176326	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs534376450	chr14:44176330-44176331	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs571203267	chr14:44176386-44176387	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs112120934	chr14:44176402-44176403	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs7153034	chr14:44176446-44176447	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs190240802	chr14:44176473-44176474	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs577740509	chr14:44176485-44176486	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs547458640	chr14:44176495-44176496	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs142352717	chr14:44176500-44176501	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs575653020	chr14:44176528-44176529	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs542955805	chr14:44176577-44176578	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs568717784	chr14:44176699-44176700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561122007	chr14:44176749-44176750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17212484	chr14:44197407-44197408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs199877029	chr14:44197438-44197439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138976677	chr14:44197459-44197460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373414161	chr14:44197500-44197501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529948203	chr14:44197505-44197506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113443163	chr14:44197507-44197508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78374163	chr14:44197532-44197533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117455858	chr14:44197604-44197605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527462345	chr14:44197605-44197606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531958180	chr14:44197608-44197609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188604896	chr14:44197643-44197644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555075585	chr14:44197680-44197681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537489437	chr14:44197699-44197700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549804274	chr14:44197780-44197781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376415497	chr14:44197789-44197790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113836941	chr14:44197926-44197927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371120399	chr14:44197946-44197947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536170033	chr14:44197962-44197963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544441798	chr14:44197997-44197998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138117474	chr14:44198002-44198003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566170119	chr14:44198015-44198016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192961321	chr14:44198018-44198019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181398644	chr14:44198037-44198038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149565843	chr14:44198046-44198047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543472823	chr14:44198083-44198084	Enhancers Weak transcription	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
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	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
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44176000-44176200	Enhancers	A549	lung
2	chr14:44176000-44176400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr14:44176000-44176600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:44176000-44176800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:44176200-44176600	Flanking Active TSS	A549	lung
6	chr14:44197400-44208400	Weak transcription	Pancreas	Pancrea
7	chr14:44198000-44199200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr14:44198000-44199400	Enhancers	Primary hematopoietic stem cells	blood
9	chr14:44198200-44198600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr14:44198200-44199000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:44198200-44199400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:44198200-44199400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:44204600-44205200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:44204800-44206000	Enhancers	Hela-S3	cervix
15	chr14:44205200-44205600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:44205200-44205800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:44205800-44206200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:44206200-44209800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:44208400-44209200	ZNF genes & repeats	Pancreas	Pancrea
20	chr14:44209800-44210000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:44213600-44214000	Enhancers	Hela-S3	cervix
22	chr14:44214000-44215000	Weak transcription	Hela-S3	cervix
23	chr14:44215000-44215600	Enhancers	Hela-S3	cervix
24	chr14:44221800-44223000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:44222600-44225200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr14:44222800-44223000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr14:44222800-44225400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr14:44222800-44225400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr14:44223000-44223200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:44223000-44223600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr14:44223000-44223600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr14:44223000-44224600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr14:44223000-44225200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr14:44223000-44225400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr14:44223200-44223600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:44223600-44223800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr14:44223600-44224600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr14:44223600-44224800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:44223800-44224200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr14:44223800-44224200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr14:44223800-44224600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:44224000-44224400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr14:44224000-44224600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr14:44224200-44224400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr14:44224400-44224800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr14:44224800-44225200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr14:44225000-44225200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr14:44225400-44227200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr14:44225400-44227200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr14:44227200-44227600	Enhancers	HUES48 Cell Line	embryonic stem cell

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