Variant report

Variant	nsv901781
Chromosome Location	chr14:43803481-43980703
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:43821381..43823520-chr14:43862265..43864179,2	MCF-7	breast:
2	chr14:43879061..43882609-chr14:43885109..43888407,3	MCF-7	breast:
3	chr14:43947614..43949166-chr14:43949323..43951314,2	MCF-7	breast:
4	chr14:43941963..43943822-chr14:43946116..43947630,2	MCF-7	breast:
5	chr14:43879061..43882609-chr14:43885109..43888407,3	MCF-7	breast:
6	chr14:43819328..43821772-chr14:43825772..43828507,2	MCF-7	breast:
7	chr14:43973454..43975582-chr14:44005011..44006707,2	MCF-7	breast:
8	chr14:43852687..43854424-chr14:43860035..43862313,2	K562	blood:
9	chr14:43786117..43788131-chr14:43802827..43805151,2	MCF-7	breast:
10	chr14:43947614..43949166-chr14:43949323..43951314,2	MCF-7	breast:
11	chr14:43880917..43882900-chr14:43887178..43889627,2	MCF-7	breast:
12	chr14:43938331..43940716-chr14:43949286..43952227,2	MCF-7	breast:
13	chr14:43821381..43823520-chr14:43862265..43864179,2	MCF-7	breast:
14	chr14:43941963..43943822-chr14:43946116..43947630,2	MCF-7	breast:
15	chr14:43819328..43821772-chr14:43825772..43828507,2	MCF-7	breast:
16	chr14:43972805..43973364-chr14:44367745..44368249,2	MCF-7	breast:
17	chr14:43938331..43940716-chr14:43949286..43952227,2	MCF-7	breast:
18	chr14:43880917..43882900-chr14:43887178..43889627,2	MCF-7	breast:
19	chr14:43488671..43489539-chr14:43933950..43934498,2	MCF-7	breast:
20	chr14:43865357..43867874-chr14:43869727..43871855,2	MCF-7	breast:
21	chr14:43852687..43854424-chr14:43860035..43862313,2	K562	blood:
22	chr14:43940452..43942483-chr14:43949115..43951115,2	MCF-7	breast:
23	chr14:43865357..43867874-chr14:43869727..43871855,2	MCF-7	breast:
24	chr14:43940452..43942483-chr14:43949115..43951115,2	MCF-7	breast:
25	chr14:43972518..43973359-chr14:44264541..44265550,6	MCF-7	breast:

No data

Extended variants
information (count: 1852 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1852 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs66583360	chr14:43816611-43816612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533216344	chr14:43816616-43816617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369806740	chr14:43816622-43816623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567152879	chr14:43816623-43816624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367710623	chr14:43816626-43816627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4900640	chr14:43816628-43816629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376662985	chr14:43816629-43816630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534548181	chr14:43816644-43816645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552909583	chr14:43816666-43816667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544851201	chr14:43816682-43816683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74639696	chr14:43816715-43816716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375789457	chr14:43816718-43816719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12437428	chr14:43816719-43816720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs139857124	chr14:43816763-43816764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535827005	chr14:43816800-43816801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143841419	chr14:43816817-43816818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572797618	chr14:43816825-43816826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs151299158	chr14:43816837-43816838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372091363	chr14:43816841-43816842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139335323	chr14:43816882-43816883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544095356	chr14:43816919-43816920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150064385	chr14:43816924-43816925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113328985	chr14:43816925-43816926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529783471	chr14:43816926-43816927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145389287	chr14:43816930-43816931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567665801	chr14:43816952-43816953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142353673	chr14:43817015-43817016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78639510	chr14:43817027-43817028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550264797	chr14:43817028-43817029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182133552	chr14:43817041-43817042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146328282	chr14:43817065-43817066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78701601	chr14:43817081-43817082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185978846	chr14:43817085-43817086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2805844	chr14:43817101-43817102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147913207	chr14:43817112-43817113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568533896	chr14:43817129-43817130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11157348	chr14:43817204-43817205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs192133618	chr14:43817206-43817207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141638248	chr14:43817217-43817218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200679278	chr14:43817222-43817223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572066235	chr14:43817267-43817268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539462815	chr14:43817310-43817311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147049668	chr14:43817318-43817319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148248539	chr14:43817330-43817331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544376545	chr14:43817345-43817346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184073020	chr14:43817348-43817349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114749347	chr14:43817360-43817361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2805845	chr14:43817384-43817385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188654348	chr14:43817396-43817397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34434759	chr14:43817426-43817427	Weak transcription	n/a	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
Burkitt''s lymphoma	19759907	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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43816600-43829600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:43825800-43827200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr14:43826000-43826800	Enhancers	Pancreas	Pancrea
4	chr14:43826000-43827200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr14:43826200-43826800	Enhancers	Fetal Lung	lung
6	chr14:43826800-43828400	Weak transcription	Pancreas	Pancrea
7	chr14:43826800-43830800	Weak transcription	Fetal Lung	lung
8	chr14:43826800-43839400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:43828400-43829800	Enhancers	Pancreas	Pancrea
10	chr14:43829600-43829800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:43829800-43830000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:43829800-43831800	Weak transcription	Pancreas	Pancrea
13	chr14:43830800-43831600	Enhancers	Fetal Lung	lung
14	chr14:43831600-43834000	Weak transcription	Fetal Lung	lung
15	chr14:43831800-43832000	Enhancers	Pancreas	Pancrea
16	chr14:43834000-43834200	Enhancers	Fetal Lung	lung
17	chr14:43839000-43840000	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr14:43839400-43839800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:43839400-43840000	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr14:43876200-43876600	Enhancers	Hela-S3	cervix
21	chr14:43879800-43880200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:43881800-43882800	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr14:43886800-43888400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr14:43887000-43887200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:43887400-43887800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr14:43887400-43888000	Enhancers	Primary hematopoietic stem cells	blood
27	chr14:43887400-43888000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:43887400-43888400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:43918000-43919200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr14:43930800-43931200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:43936600-43940200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:43937600-43938000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:43939800-43940000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr14:43940000-43940600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr14:43940200-43941400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:43940400-43941400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr14:43940600-43941000	Enhancers	Brain Substantia Nigra	brain
38	chr14:43940600-43941200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr14:43940800-43941200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr14:43940800-43941200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr14:43940800-43941200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr14:43940800-43941200	Enhancers	Fetal Kidney	kidney
43	chr14:43947600-43948400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr14:43948400-43954800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr14:43950200-43950600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr14:43952800-43953000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:43953200-43954600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:43954600-43955200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr14:43954800-43955200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr14:43954800-43955200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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