Variant report

Variant	esv3397341
Chromosome Location	chr6:118223059-118225507
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	POLR2A	chr6:118225281-118225514	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr6:118223084-118223255	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
SLC35F1	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543489365	chr6:118223409-118223410	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192146352	chr6:118223449-118223450	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565564474	chr6:118223466-118223467	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183688266	chr6:118223467-118223468	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547985424	chr6:118223477-118223478	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188407751	chr6:118223506-118223507	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530165507	chr6:118223520-118223521	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577406901	chr6:118223600-118223601	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181300643	chr6:118223621-118223622	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537027577	chr6:118223673-118223674	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12525619	chr6:118223698-118223699	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117498984	chr6:118223734-118223735	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190162787	chr6:118223788-118223789	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374662745	chr6:118223818-118223819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373601294	chr6:118223826-118223827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182348923	chr6:118223837-118223838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370595629	chr6:118223840-118223841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535584342	chr6:118223847-118223848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560350662	chr6:118223866-118223867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116625999	chr6:118223884-118223885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527602420	chr6:118223963-118223964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs60194924	chr6:118224057-118224058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187025643	chr6:118224077-118224078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11440966	chr6:118224197-118224198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs3950979	chr6:118224224-118224225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577569472	chr6:118224241-118224242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368640287	chr6:118224242-118224243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62432034	chr6:118224259-118224260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199519312	chr6:118224317-118224318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559934843	chr6:118224327-118224328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376750166	chr6:118224347-118224348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368536470	chr6:118224426-118224427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369071602	chr6:118224448-118224449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111994848	chr6:118224449-118224450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549890183	chr6:118224457-118224458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530226040	chr6:118224472-118224473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376831892	chr6:118224475-118224476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7745854	chr6:118224476-118224477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs552124646	chr6:118224478-118224479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570417432	chr6:118224555-118224556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192313507	chr6:118224623-118224624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546486545	chr6:118224640-118224641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532704596	chr6:118224677-118224678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568274908	chr6:118224716-118224717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180773880	chr6:118224744-118224745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557036875	chr6:118224780-118224781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575223847	chr6:118224914-118224915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539447083	chr6:118224965-118224966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547682440	chr6:118224973-118224974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557748721	chr6:118224983-118224984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Salivary gland tumor	18059337	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118223400-118223800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:118223400-118223800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:118223800-118226600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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