Variant report

Variant	esv3343342
Chromosome Location	chr14:80930938-80938992
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSHR-3	chr14:80938203-80938379	XLOC_010884
2	lnc-TSHR-3	chr14:80931126-80931299	XLOC_010884

Extended variants
information (count: 336 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:336 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554933416	chr14:80930973-80930974	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551764198	chr14:80930994-80930995	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563803261	chr14:80930998-80930999	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145959209	chr14:80931011-80931012	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140135091	chr14:80931012-80931013	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181641759	chr14:80931044-80931045	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572876866	chr14:80931073-80931074	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77687043	chr14:80931074-80931075	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143754227	chr14:80931099-80931100	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146847776	chr14:80931118-80931119	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200186806	chr14:80931119-80931120	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61193182	chr14:80931136-80931137	Bivalent Enhancer Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs558726181	chr14:80931158-80931159	Bivalent Enhancer Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs376745879	chr14:80931164-80931165	Bivalent Enhancer Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs539810362	chr14:80931165-80931166	Bivalent Enhancer Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs558202960	chr14:80931180-80931181	Bivalent Enhancer Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs566897620	chr14:80931190-80931191	Bivalent Enhancer Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs78864648	chr14:80931195-80931196	Bivalent Enhancer Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs113385478	chr14:80931206-80931207	Bivalent Enhancer Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs577009247	chr14:80931218-80931219	Bivalent Enhancer Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs555619247	chr14:80931224-80931225	Bivalent Enhancer Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs574173736	chr14:80931225-80931226	Bivalent Enhancer Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs544480407	chr14:80931236-80931237	Bivalent Enhancer Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs187341420	chr14:80931239-80931240	Bivalent Enhancer Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs368846143	chr14:80931240-80931241	Bivalent Enhancer Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs150058221	chr14:80931253-80931254	Bivalent Enhancer Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs563723774	chr14:80931282-80931283	Bivalent Enhancer Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs79450238	chr14:80931286-80931287	Bivalent Enhancer Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs540321906	chr14:80931389-80931390	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112794194	chr14:80931417-80931418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112443772	chr14:80931423-80931424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550520548	chr14:80931437-80931438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569109094	chr14:80931450-80931451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533238249	chr14:80931452-80931453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544446291	chr14:80931453-80931454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374848608	chr14:80931527-80931528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564394910	chr14:80931534-80931535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551730978	chr14:80931554-80931555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566860814	chr14:80931561-80931562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78101950	chr14:80931579-80931580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555783803	chr14:80931626-80931627	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs567662728	chr14:80931628-80931629	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs540019163	chr14:80931651-80931652	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs149128823	chr14:80931678-80931679	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs556502323	chr14:80931686-80931687	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs577850630	chr14:80931746-80931747	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs545287589	chr14:80931772-80931773	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs74921963	chr14:80931838-80931839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572460479	chr14:80931862-80931863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561883466	chr14:80931870-80931871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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	22522925	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80923400-80941200	Weak transcription	HSMM	muscle
2	chr14:80925200-80941400	Weak transcription	Psoas Muscle	Psoas
3	chr14:80926000-80937000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr14:80926200-80936200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr14:80929600-80939200	Weak transcription	Thymus	Thymus
6	chr14:80930800-80931000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
7	chr14:80930800-80931400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr14:80931000-80931400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
9	chr14:80931200-80931600	Weak transcription	Fetal Muscle Leg	muscle
10	chr14:80931200-80932600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr14:80931400-80935000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr14:80931600-80931800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
13	chr14:80931600-80932000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr14:80931600-80932400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:80931600-80932600	Enhancers	Fetal Muscle Leg	muscle
16	chr14:80931800-80932000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr14:80931800-80932400	Enhancers	Fetal Lung	lung
18	chr14:80932000-80934400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:80932000-80934800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr14:80932200-80932400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:80932400-80933000	Enhancers	Brain Germinal Matrix	brain
22	chr14:80932600-80936400	Weak transcription	Fetal Muscle Leg	muscle
23	chr14:80932800-80933000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr14:80933000-80933200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:80934200-80935000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr14:80934400-80934600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr14:80934400-80934800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr14:80934400-80936000	Enhancers	HepG2	liver
29	chr14:80934600-80935400	Enhancers	A549	lung
30	chr14:80934800-80935000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr14:80934800-80935000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:80934800-80935600	Enhancers	Stomach Mucosa	stomach
33	chr14:80935000-80935200	Enhancers	H9 Cell Line	embryonic stem cell
34	chr14:80936200-80941800	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr14:80936400-80938000	Strong transcription	Fetal Muscle Leg	muscle
36	chr14:80937000-80943000	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr14:80937400-80938000	Weak transcription	Stomach Mucosa	stomach
38	chr14:80937800-80939000	Weak transcription	Primary T cells from cord blood	blood
39	chr14:80938000-80940000	ZNF genes & repeats	Fetal Muscle Leg	muscle
40	chr14:80938400-80940400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:80938600-80939000	Weak transcription	Dnd41	blood
42	chr14:80938800-80939000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:80938800-80941200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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