Variant report

Variant	esv2760002
Chromosome Location	chr14:83035707-83146797
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr14:83118887-83118971	A549	lung:	n/a	n/a
2	CEBPB	chr14:83142902-83143069	K562	blood:	n/a	chr14:83142938-83142949
3	CEBPB	chr14:83065879-83066158	HepG2	liver:	n/a	chr14:83066019-83066030
4	CEBPB	chr14:83107545-83107857	HepG2	liver:	n/a	chr14:83107714-83107727 chr14:83107716-83107727 chr14:83107660-83107669 chr14:83107658-83107669 chr14:83107658-83107671 chr14:83107716-83107725
5	CEBPB	chr14:83058483-83058781	HepG2	liver:	n/a	n/a
6	CEBPB	chr14:83142772-83143116	A549	lung:	n/a	chr14:83142938-83142949
7	CEBPB	chr14:83043272-83043502	A549	lung:	n/a	n/a
8	CEBPB	chr14:83142772-83143120	IMR90	lung:	n/a	chr14:83142938-83142949
9	CEBPB	chr14:83107538-83107864	IMR90	lung:	n/a	chr14:83107714-83107727 chr14:83107716-83107727 chr14:83107660-83107669 chr14:83107658-83107669 chr14:83107658-83107671 chr14:83107716-83107725
10	CEBPB	chr14:83079406-83079669	A549	lung:	n/a	n/a
11	CEBPB	chr14:83083056-83083263	H1-hESC	embryonic stem cell:	n/a	chr14:83083147-83083158
12	CEBPB	chr14:83065935-83066143	A549	lung:	n/a	chr14:83066019-83066030
13	CEBPB	chr14:83107565-83107829	A549	lung:	n/a	chr14:83107714-83107727 chr14:83107716-83107727 chr14:83107660-83107669 chr14:83107658-83107669 chr14:83107658-83107671 chr14:83107716-83107725
14	CEBPB	chr14:83083006-83083329	HepG2	liver:	n/a	chr14:83083147-83083158
15	CEBPB	chr14:83142779-83143130	HepG2	liver:	n/a	chr14:83142938-83142949
16	CTCF	chr14:83088440-83088590	HRE	kidney:	n/a	n/a
17	CTCF	chr14:83088493-83088678	MCF-7	breast:	n/a	n/a
18	CTCF	chr14:83088408-83088687	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr14:83088400-83088550	BE2_C	brain:	n/a	n/a
20	CTCF	chr14:83088516-83088666	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr14:83088420-83088570	MCF-7	breast:	n/a	n/a
22	CTCF	chr14:83088523-83088661	MCF-7	breast:	n/a	n/a
23	CTCF	chr14:83088500-83088650	GM12874	blood:	n/a	n/a
24	CTCF	chr14:83088525-83088660	MCF-7	breast:	n/a	n/a
25	CTCF	chr14:83088549-83088610	K562	blood:	n/a	n/a
26	CTCF	chr14:83088480-83088630	NB4	blood:	n/a	n/a
27	CTCF	chr14:83088540-83088690	GM12872	blood:	n/a	n/a
28	CTCF	chr14:83088627-83088671	LNCaP	prostate:	n/a	n/a
29	CTCF	chr14:83088545-83088653	HepG2	liver:	n/a	n/a
30	CTCF	chr14:83088500-83088650	HEK293	kidney:	n/a	n/a
31	CTCF	chr14:83088480-83088630	HA-sp	spinal cord:	n/a	n/a
32	CTCF	chr14:83088543-83088645	MCF-7	breast:	n/a	n/a
33	CTCF	chr14:83088562-83088606	GM19238	blood:	n/a	n/a
34	CTCF	chr14:83088520-83088670	HCT-116	colon:	n/a	n/a
35	CTCF	chr14:83088535-83088649	A549	lung:	n/a	n/a
36	CTCF	chr14:83088540-83088690	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr14:83122140-83122290	HEEpiC	esophagus:	n/a	n/a
38	CTCF	chr14:83055120-83055270	NHEK	skin:	n/a	n/a
39	CTCF	chr14:83088460-83088610	GM12875	blood:	n/a	n/a
40	CTCF	chr14:83088440-83088590	NHEK	skin:	n/a	n/a
41	CTCF	chr14:83088545-83088637	MCF-7	breast:	n/a	n/a
42	CTCF	chr14:83088500-83088650	MCF-7	breast:	n/a	n/a
43	CTCF	chr14:83090892-83090976	GM20000	blood:	n/a	n/a
44	CTCF	chr14:83088440-83088590	GM12866	blood:	n/a	n/a
45	CTCF	chr14:83088520-83088670	HepG2	liver:	n/a	n/a
46	CTCF	chr14:83088560-83088710	A549	lung:	n/a	n/a
47	CTCF	chr14:83088480-83088630	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr14:83088480-83088630	GM12872	blood:	n/a	n/a
49	CTCF	chr14:83088580-83088730	A549	lung:	n/a	n/a
50	CTCF	chr14:83088500-83088650	HRE	kidney:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSHR-5	chr14:83115921-83116488	NONHSAT038089
2	lnc-TSHR-5	chr14:83117267-83117334	NONHSAT038084
3	lnc-TSHR-5	chr14:83108976-83109018	ENSG00000258743
4	lnc-TSHR-5	chr14:83117268-83117340	ENSG00000258743
5	lnc-TSHR-5	chr14:83108882-83109018	NONHSAT038084
6	lnc-TSHR-5	chr14:83108964-83109018	ENSG00000258743
7	lnc-TSHR-5	chr14:83108980-83109018	ENSG00000258743
8	lnc-TSHR-5	chr14:83117268-83117340	ENSG00000258743
9	lnc-TSHR-5	chr14:83117268-83117334	XLOC_010887
10	lnc-TSHR-5	chr14:83117268-83118001	ENSG00000258743
11	lnc-TSHR-5	chr14:83117268-83117971	NONHSAT038089
12	lnc-TSHR-5	chr14:83117268-83117340	ENSG00000258743
13	lnc-TSHR-5	chr14:83108883-83109018	XLOC_010887
14	lnc-TSHR-5	chr14:83108971-83109018	ENSG00000258743
15	lnc-TSHR-5	chr14:83123459-83124110	ENSG00000258743

Variant related genes	Relation type
ENSG00000258743	TF binding region

Extended variants
information (count: 670 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:670 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75446194	chr14:83058447-83058448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535170341	chr14:83058462-83058463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553491876	chr14:83058507-83058508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572179160	chr14:83058593-83058594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181141666	chr14:83058616-83058617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141971704	chr14:83058662-83058663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554437060	chr14:83058718-83058719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576298054	chr14:83058720-83058721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75565666	chr14:83058722-83058723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78285350	chr14:83058729-83058730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572028150	chr14:83058738-83058739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576422918	chr14:83058756-83058757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1954375	chr14:83058779-83058780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575433566	chr14:83058781-83058782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144168125	chr14:83058782-83058783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559379239	chr14:83058783-83058784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529726911	chr14:83058863-83058864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548781083	chr14:83058888-83058889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563690201	chr14:83058894-83058895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560878993	chr14:83058942-83058943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185631978	chr14:83058987-83058988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552899525	chr14:83059005-83059006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370146743	chr14:83059035-83059036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570897851	chr14:83059145-83059146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116063911	chr14:83059192-83059193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190736996	chr14:83059198-83059199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572872152	chr14:83059204-83059205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200766279	chr14:83059207-83059208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568559931	chr14:83059245-83059246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113945795	chr14:83059253-83059254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535542609	chr14:83059281-83059282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373607678	chr14:83059282-83059283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114394423	chr14:83059321-83059322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576157172	chr14:83059373-83059374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536990669	chr14:83059376-83059377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181588278	chr14:83059473-83059474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539444621	chr14:83059516-83059517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576459118	chr14:83059549-83059550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34951902	chr14:83059562-83059563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559052721	chr14:83059613-83059614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147804319	chr14:83059650-83059651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541513705	chr14:83059686-83059687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186563355	chr14:83059692-83059693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2798388	chr14:83059786-83059787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552936280	chr14:83059796-83059797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138235929	chr14:83061820-83061821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376435836	chr14:83061848-83061849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149585523	chr14:83061873-83061874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2689103	chr14:83061945-83061946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs193228135	chr14:83061959-83061960	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
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
Breast cancer	22522925	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83058400-83059800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:83059200-83059800	Enhancers	Adipose Nuclei	Adipose
3	chr14:83061800-83062400	Enhancers	Fetal Kidney	kidney
4	chr14:83061800-83062400	Enhancers	Fetal Lung	lung
5	chr14:83077000-83077400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:83077200-83077600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:83077200-83077600	Enhancers	NHEK	skin
8	chr14:83088600-83088800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr14:83088800-83089000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr14:83089000-83089200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:83092000-83093400	Enhancers	Brain Cingulate Gyrus	brain
12	chr14:83092400-83093000	Active TSS	Brain Anterior Caudate	brain
13	chr14:83092400-83093200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr14:83092600-83093000	Enhancers	Brain Angular Gyrus	brain
15	chr14:83092600-83093200	Active TSS	Brain Hippocampus Middle	brain
16	chr14:83092600-83093400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:83092800-83093000	Flanking Active TSS	Brain Substantia Nigra	brain
18	chr14:83093000-83093200	Active TSS	Brain Substantia Nigra	brain
19	chr14:83093200-83093400	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr14:83093200-83093400	Flanking Active TSS	Brain Substantia Nigra	brain
21	chr14:83093400-83093800	Enhancers	Brain Hippocampus Middle	brain
22	chr14:83093400-83093800	Enhancers	Brain Substantia Nigra	brain
23	chr14:83098600-83099400	Enhancers	Stomach Smooth Muscle	stomach
24	chr14:83108400-83109800	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr14:83108400-83110200	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr14:83108400-83110400	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr14:83108600-83109200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr14:83108600-83109200	Active TSS	Fetal Muscle Leg	muscle
29	chr14:83108600-83109200	Active TSS	A549	lung
30	chr14:83108600-83109400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:83108600-83109400	Active TSS	Brain Germinal Matrix	brain
32	chr14:83108600-83109400	Active TSS	Fetal Intestine Large	intestine
33	chr14:83108600-83109400	Active TSS	Fetal Stomach	stomach
34	chr14:83108600-83110200	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr14:83108800-83109200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:83108800-83109200	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr14:83108800-83109200	Active TSS	Fetal Brain Female	brain
38	chr14:83108800-83109200	Active TSS	Fetal Muscle Trunk	muscle
39	chr14:83108800-83109200	Active TSS	Ovary	ovary
40	chr14:83108800-83109200	Active TSS	Psoas Muscle	Psoas
41	chr14:83108800-83109200	Active TSS	Right Ventricle	heart
42	chr14:83108800-83109200	Active TSS	Thymus	Thymus
43	chr14:83108800-83109400	Active TSS	Fetal Intestine Small	intestine
44	chr14:83108800-83109800	Active TSS	H1 Cell Line	embryonic stem cell
45	chr14:83109000-83109400	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr14:83109000-83109400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:83109000-83109400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:83109800-83112400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr14:83110200-83112400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr14:83110200-83112800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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