Variant report

Variant	nsv565250
Chromosome Location	chr14:80104576-80114863
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	E2F4	chr14:80105479-80105655	MCF10A-Er-Src	breast:	n/a	n/a
2	GATA2	chr14:80109590-80109954	HUVEC	blood vessel:	n/a	chr14:80109750-80109764
3	GATA3	chr14:80109659-80109855	SH-SY5Y	brain:	n/a	n/a
4	POLR2A	chr14:80112058-80112796	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr14:80112079-80112860	H1-neurons	neurons:	n/a	n/a
6	REST	chr14:80111826-80113026	H1-neurons	neurons:	n/a	chr14:80112790-80112810
7	REST	chr14:80112002-80112728	H1-neurons	neurons:	n/a	n/a
8	ZNF263	chr14:80105913-80106397	HEK293-T-REx	kidney:	n/a	chr14:80106216-80106225 chr14:80106210-80106231

Variant related genes	Relation type
ENSG00000259106	TF binding region

Extended variants
information (count: 337 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:337 , 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	rs17109649	chr14:80104576-80104577	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368287019	chr14:80104601-80104602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs221473	chr14:80104616-80104617	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs373544937	chr14:80104627-80104628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111401712	chr14:80104634-80104635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112710624	chr14:80104635-80104636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564600094	chr14:80104673-80104674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374083448	chr14:80104674-80104675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534120161	chr14:80104678-80104679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529560125	chr14:80104679-80104680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188690919	chr14:80104687-80104688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs151328742	chr14:80104690-80104691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563465145	chr14:80104697-80104698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116429400	chr14:80104806-80104807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556002854	chr14:80104822-80104823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113639114	chr14:80104823-80104824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140462070	chr14:80104828-80104829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541404213	chr14:80104851-80104852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561381904	chr14:80104890-80104891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17109651	chr14:80104934-80104935	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs574288066	chr14:80104957-80104958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551991106	chr14:80104970-80104971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145651732	chr14:80104982-80104983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532611277	chr14:80105032-80105033	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs59895317	chr14:80105050-80105051	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs17764262	chr14:80105072-80105073	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs371157190	chr14:80105157-80105158	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs13313410	chr14:80105166-80105167	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs548591136	chr14:80105177-80105178	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs181407676	chr14:80105190-80105191	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs115773522	chr14:80105228-80105229	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542435128	chr14:80105233-80105234	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529205852	chr14:80105237-80105238	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186954529	chr14:80105304-80105305	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142890725	chr14:80105310-80105311	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111644296	chr14:80105343-80105344	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576043244	chr14:80105355-80105356	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs221472	chr14:80105357-80105358	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs74493407	chr14:80105368-80105369	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191698833	chr14:80105372-80105373	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540489133	chr14:80105394-80105395	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75401508	chr14:80105410-80105411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577490942	chr14:80105428-80105429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373380956	chr14:80105444-80105445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138058017	chr14:80105452-80105453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574277399	chr14:80105461-80105462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375231221	chr14:80105601-80105602	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs531837209	chr14:80105604-80105605	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs79478539	chr14:80105613-80105614	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs221471	chr14:80105624-80105625	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	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
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80104200-80105400	Enhancers	Pancreas	Pancrea
2	chr14:80104400-80105000	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr14:80104400-80105600	Enhancers	Fetal Brain Male	brain
4	chr14:80104600-80106000	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr14:80105000-80105200	Enhancers	Stomach Smooth Muscle	stomach
6	chr14:80105000-80105400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr14:80105000-80105600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:80105000-80105600	Enhancers	Fetal Brain Female	brain
9	chr14:80105000-80105800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:80105000-80106400	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr14:80105000-80108600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr14:80105200-80105800	Enhancers	HSMMtube	muscle
13	chr14:80105200-80106000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr14:80105400-80105600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr14:80105400-80106200	Weak transcription	Pancreas	Pancrea
16	chr14:80105600-80106000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:80105600-80106000	Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr14:80106000-80106200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:80106000-80106600	Enhancers	Stomach Smooth Muscle	stomach
20	chr14:80106000-80108000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr14:80106000-80109400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr14:80106200-80106400	Enhancers	Pancreas	Pancrea
23	chr14:80106200-80109200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:80106400-80107800	Weak transcription	Pancreas	Pancrea
25	chr14:80106600-80112600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr14:80107800-80108000	Enhancers	Pancreas	Pancrea
27	chr14:80108000-80109000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr14:80108400-80110200	Enhancers	Dnd41	blood
29	chr14:80109200-80109800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:80109400-80110000	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr14:80110000-80114600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr14:80110800-80111400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:80112600-80113200	Enhancers	Stomach Smooth Muscle	stomach
34	chr14:80112600-80113800	Enhancers	Adipose Nuclei	Adipose
35	chr14:80112800-80113200	Enhancers	Rectal Smooth Muscle	rectum
36	chr14:80113000-80113400	Enhancers	Colon Smooth Muscle	Colon
37	chr14:80113200-80135400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr14:80113400-80114400	Weak transcription	Colon Smooth Muscle	Colon

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