Variant report

Variant	esv3402715
Chromosome Location	chr14:67658699-67661472
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	FOSL2	chr14:67658377-67658964	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr14:67658886-67659035	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr14:67658454-67658821	SK-N-SH	brain:	n/a	n/a
4	TCF12	chr14:67659019-67659480	SK-N-SH	brain:	n/a	n/a
5	ZNF384	chr14:67661052-67661148	K562	blood:	n/a	n/a

Variant related genes	Relation type
FAM71D	TF binding region
ENSG00000258988	TF binding region

Extended variants
information (count: 142 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116968165	chr14:67658721-67658722	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs60308909	chr14:67658738-67658739	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs17104100	chr14:67658764-67658765	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs571347249	chr14:67658768-67658769	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs376493771	chr14:67658813-67658814	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs573251069	chr14:67658814-67658815	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs139831776	chr14:67658823-67658824	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs528751174	chr14:67658824-67658825	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs11158653	chr14:67658895-67658896	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs545439739	chr14:67658917-67658918	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs536506860	chr14:67658950-67658951	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs116771898	chr14:67658961-67658962	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs141509471	chr14:67658962-67658963	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs534203526	chr14:67658965-67658966	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs558758065	chr14:67659100-67659101	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs188984686	chr14:67659152-67659153	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs191881976	chr14:67659162-67659163	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs564996769	chr14:67659164-67659165	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs374510092	chr14:67659171-67659172	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs574694923	chr14:67659240-67659241	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs542077735	chr14:67659242-67659243	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs560428994	chr14:67659351-67659352	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs528056095	chr14:67659376-67659377	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs116860902	chr14:67659397-67659398	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs532767634	chr14:67659548-67659549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564821944	chr14:67659558-67659559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs33977054	chr14:67659577-67659578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184965622	chr14:67659609-67659610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551486876	chr14:67659611-67659612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201262306	chr14:67659626-67659627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372592407	chr14:67659627-67659628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189422409	chr14:67659633-67659634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568995058	chr14:67659696-67659697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536470023	chr14:67659698-67659699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548472802	chr14:67659768-67659769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201110043	chr14:67659782-67659783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114391936	chr14:67659783-67659784	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
38	rs534166346	chr14:67659816-67659817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558949441	chr14:67659829-67659830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181022748	chr14:67659830-67659831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148795114	chr14:67659854-67659855	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
42	rs567232398	chr14:67659861-67659862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142436068	chr14:67659865-67659866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185865957	chr14:67659889-67659890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538290678	chr14:67659923-67659924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552844973	chr14:67659928-67659929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376120172	chr14:67659957-67659958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189632178	chr14:67659963-67659964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111217220	chr14:67660000-67660001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111217230	chr14:67660029-67660030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21611746	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67648200-67660400	Weak transcription	Ovary	ovary
2	chr14:67648400-67658800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:67655000-67661800	Weak transcription	A549	lung
4	chr14:67655400-67658800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:67658200-67658800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:67658200-67659000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:67658200-67659000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:67658200-67659000	Enhancers	HSMMtube	muscle
9	chr14:67658200-67659000	Enhancers	NH-A	brain
10	chr14:67658200-67659400	Enhancers	HSMM	muscle
11	chr14:67658400-67658800	Active TSS	Brain Cingulate Gyrus	brain
12	chr14:67658400-67658800	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr14:67658400-67659000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:67658400-67659000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:67658400-67659000	Flanking Active TSS	Brain Substantia Nigra	brain
16	chr14:67658400-67659400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr14:67658400-67659400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:67658600-67658800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr14:67658600-67658800	Active TSS	Brain Angular Gyrus	brain
20	chr14:67658600-67658800	Active TSS	Brain Hippocampus Middle	brain
21	chr14:67658600-67658800	Flanking Active TSS	Osteobl	bone
22	chr14:67658600-67659000	Active TSS	Brain Anterior Caudate	brain
23	chr14:67658600-67659400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:67658800-67659000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:67658800-67659000	Flanking Active TSS	Brain Angular Gyrus	brain
26	chr14:67658800-67659000	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr14:67658800-67659000	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr14:67658800-67659000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr14:67658800-67659200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:67658800-67659200	Enhancers	Osteobl	bone
31	chr14:67659000-67659200	Enhancers	Brain Angular Gyrus	brain
32	chr14:67659000-67659200	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr14:67659000-67659200	Enhancers	Brain Cingulate Gyrus	brain
34	chr14:67659000-67659200	Active TSS	Brain Hippocampus Middle	brain
35	chr14:67659000-67659400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr14:67659000-67659400	Enhancers	Brain Substantia Nigra	brain
37	chr14:67659000-67662000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:67659200-67659400	Enhancers	Brain Anterior Caudate	brain
39	chr14:67659200-67661800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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