Variant report

Variant	nsv901856
Chromosome Location	chr14:46371340-46399574
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:1)
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	chr14:46375125..46377270-chr14:46379726..46383333,3	K562	blood:
2	chr14:46385119..46386937-chr14:46388253..46390395,2	MCF-7	breast:
3	chr14:46368837..46370409-chr14:46372784..46375382,2	K562	blood:
4	chr14:46385119..46386937-chr14:46388253..46390395,2	MCF-7	breast:
5	chr14:46375125..46377270-chr14:46379726..46383333,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FANCM-9	chr14:46376825-46376872	NONHSAT036675

No data

Extended variants
information (count: 387 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:387 , 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	rs8005333	chr14:46371340-46371341	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs8004381	chr14:46371357-46371358	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs531959481	chr14:46371365-46371366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550425058	chr14:46371375-46371376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568394424	chr14:46371420-46371421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554930153	chr14:46371502-46371503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547931966	chr14:46371517-46371518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189784013	chr14:46371532-46371533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376866515	chr14:46371677-46371678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182112668	chr14:46371679-46371680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577213448	chr14:46371759-46371760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557711043	chr14:46371792-46371793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138208675	chr14:46371825-46371826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536973827	chr14:46371830-46371831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369125896	chr14:46371888-46371889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555621760	chr14:46371899-46371900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368997589	chr14:46371954-46371955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573572139	chr14:46371978-46371979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187769129	chr14:46372012-46372013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372787977	chr14:46372036-46372037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559030112	chr14:46372051-46372052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113364069	chr14:46372091-46372092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544700468	chr14:46372132-46372133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564550512	chr14:46372140-46372141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79160828	chr14:46372148-46372149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147217513	chr14:46372165-46372166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140546299	chr14:46372191-46372192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529310469	chr14:46372199-46372200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532259871	chr14:46372220-46372221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190740118	chr14:46372248-46372249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566072961	chr14:46372264-46372265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35928653	chr14:46372294-46372295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539989351	chr14:46372338-46372339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149713940	chr14:46372360-46372361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144508709	chr14:46372367-46372368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183605588	chr14:46372423-46372424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555398557	chr14:46372429-46372430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573557027	chr14:46372488-46372489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544507427	chr14:46372545-46372546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534593767	chr14:46372552-46372553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373147860	chr14:46372563-46372564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552593536	chr14:46372574-46372575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188643561	chr14:46372603-46372604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544737378	chr14:46372611-46372612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148420961	chr14:46372672-46372673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576582568	chr14:46372702-46372703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370703307	chr14:46372721-46372722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564181871	chr14:46372772-46372773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142515617	chr14:46372832-46372833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17726882	chr14:46372835-46372836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46368800-46371600	Enhancers	Rectal Smooth Muscle	rectum
2	chr14:46370800-46372000	Enhancers	Colon Smooth Muscle	Colon
3	chr14:46371400-46371600	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr14:46372000-46373000	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:46373000-46373200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:46373000-46373200	Enhancers	Colon Smooth Muscle	Colon
7	chr14:46373200-46373800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:46373800-46374600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:46375000-46376400	Enhancers	GM12878-XiMat	blood
10	chr14:46375200-46376000	Enhancers	NHEK	skin
11	chr14:46385400-46386200	Enhancers	Rectal Smooth Muscle	rectum
12	chr14:46385600-46385800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:46385800-46388600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:46388600-46390200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:46389000-46389800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:46389000-46390000	Enhancers	HMEC	breast
17	chr14:46389200-46390000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:46389200-46390000	Enhancers	NHEK	skin

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