Variant report

Variant	nsv1377
Chromosome Location	chr14:82474423-82538647
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:82475629..82476129-chr17:56716796..56717701,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSHR-4	chr14:82496450-82496693	ENSG00000259035

Extended variants
information (count: 764 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:764 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1623473	chr14:82474442-82474443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533334191	chr14:82474525-82474526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551810477	chr14:82474549-82474550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566808586	chr14:82474559-82474560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10135043	chr14:82474571-82474572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs891477	chr14:82474586-82474587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs536394963	chr14:82474590-82474591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535285984	chr14:82474614-82474615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556802711	chr14:82474618-82474619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138287628	chr14:82474630-82474631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191590917	chr14:82474674-82474675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369694408	chr14:82474705-82474706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143927601	chr14:82474727-82474728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557731323	chr14:82474739-82474740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78521838	chr14:82474758-82474759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534215051	chr14:82474785-82474786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558959286	chr14:82474801-82474802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368013488	chr14:82474828-82474829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143280581	chr14:82474852-82474853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555200782	chr14:82474914-82474915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574258928	chr14:82474967-82474968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185231613	chr14:82475003-82475004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369617375	chr14:82475025-82475026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148315326	chr14:82475048-82475049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538016052	chr14:82475059-82475060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545416192	chr14:82475070-82475071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1769416	chr14:82475149-82475150	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs188497307	chr14:82475197-82475198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528680971	chr14:82475212-82475213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs66540527	chr14:82475213-82475214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527711628	chr14:82475279-82475280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549427524	chr14:82475294-82475295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185867800	chr14:82475310-82475311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143789546	chr14:82475330-82475331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529012708	chr14:82475398-82475399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1890691	chr14:82475427-82475428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1769418	chr14:82475443-82475444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539339927	chr14:82475487-82475488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551421054	chr14:82475491-82475492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs367570152	chr14:82475613-82475614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189422999	chr14:82475620-82475621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141745075	chr14:82475673-82475674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560302642	chr14:82475717-82475718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571915871	chr14:82475721-82475722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12895430	chr14:82475792-82475793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs180987980	chr14:82475812-82475813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538397710	chr14:82475819-82475820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560446222	chr14:82475869-82475870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372508313	chr14:82475892-82475893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183694022	chr14:82475950-82475951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:82474000-82475400	Weak transcription	Liver	Liver
2	chr14:82475400-82476200	Enhancers	Fetal Intestine Small	intestine
3	chr14:82475400-82477400	Enhancers	Liver	Liver
4	chr14:82475600-82475800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:82475600-82476200	Enhancers	Duodenum Mucosa	Duodenum
6	chr14:82475600-82477800	Enhancers	Fetal Intestine Large	intestine
7	chr14:82475800-82478000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:82476200-82476600	Weak transcription	Fetal Intestine Small	intestine
9	chr14:82476200-82477200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr14:82476600-82477800	Enhancers	Fetal Intestine Small	intestine
11	chr14:82477200-82477600	Enhancers	Duodenum Mucosa	Duodenum
12	chr14:82477400-82478000	Enhancers	Colonic Mucosa	Colon
13	chr14:82478000-82478200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:82478000-82478400	Weak transcription	Colonic Mucosa	Colon
15	chr14:82478200-82478600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:82478600-82478800	Enhancers	Colonic Mucosa	Colon
17	chr14:82496600-82496800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:82508400-82509000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr14:82509000-82512200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr14:82511600-82512400	Enhancers	Fetal Intestine Large	intestine
21	chr14:82512200-82513200	Enhancers	Fetal Intestine Small	intestine
22	chr14:82512200-82515400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr14:82512400-82514200	Weak transcription	Fetal Intestine Large	intestine
24	chr14:82513200-82513600	Weak transcription	Fetal Intestine Small	intestine
25	chr14:82513600-82514400	Enhancers	Fetal Intestine Small	intestine
26	chr14:82514200-82514600	Enhancers	Fetal Intestine Large	intestine
27	chr14:82521400-82522200	Enhancers	Colon Smooth Muscle	Colon
28	chr14:82521800-82522200	Enhancers	Rectal Smooth Muscle	rectum
29	chr14:82522000-82522400	Active TSS	Stomach Smooth Muscle	stomach
30	chr14:82522000-82522600	Enhancers	Fetal Brain Male	brain
31	chr14:82522000-82522800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr14:82522200-82522600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr14:82523200-82523400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:82526000-82527200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr14:82526200-82526400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr14:82526200-82526600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:82526200-82527000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr14:82526200-82527200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr14:82526200-82527200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr14:82526400-82526600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr14:82526400-82527000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr14:82526400-82527000	Enhancers	H9 Cell Line	embryonic stem cell
43	chr14:82526400-82527000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr14:82526400-82527200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr14:82526400-82527200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr14:82526600-82526800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr14:82526800-82527000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr14:82527000-82527400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr14:82527000-82528000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr14:82527200-82528200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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