Variant report

Variant	esv3348649
Chromosome Location	chr6:114541059-114544057
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	GATA2	chr6:114541746-114542050	SH-SY5Y	brain:	n/a	n/a
2	GATA3	chr6:114541759-114542006	SH-SY5Y	brain:	n/a	n/a
3	MAFF	chr6:114541556-114541756	HepG2	liver:	n/a	chr6:114541690-114541708
4	MAFK	chr6:114541561-114541833	HepG2	liver:	n/a	chr6:114541695-114541706 chr6:114541691-114541706 chr6:114541696-114541707 chr6:114541696-114541707
5	MAFK	chr6:114541591-114541807	HepG2	liver:	n/a	chr6:114541695-114541706 chr6:114541691-114541706 chr6:114541696-114541707 chr6:114541696-114541707
6	POLR2A	chr6:114541206-114541737	SK-N-MC	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MARCKS-5	chr6:114543973-114544037	NONHSAT114604

Variant related genes	Relation type
RNA5SP213	TF binding region

Extended variants
information (count: 90 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185699048	chr6:114541097-114541098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552573160	chr6:114541182-114541183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564496940	chr6:114541215-114541216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199689881	chr6:114541237-114541238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532403811	chr6:114541251-114541252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369041005	chr6:114541273-114541274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562830977	chr6:114541285-114541286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565861433	chr6:114541318-114541319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9400703	chr6:114541376-114541377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs548250699	chr6:114541388-114541389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190590285	chr6:114541436-114541437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536769879	chr6:114541517-114541518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558082932	chr6:114541541-114541542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551534894	chr6:114541551-114541552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150586233	chr6:114541589-114541590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181690638	chr6:114541592-114541593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553437038	chr6:114541600-114541601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184168686	chr6:114541641-114541642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574956017	chr6:114541642-114541643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542093729	chr6:114541815-114541816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566741415	chr6:114541838-114541839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28572366	chr6:114541852-114541853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139646275	chr6:114541910-114541911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116209776	chr6:114541914-114541915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373124109	chr6:114541926-114541927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546325389	chr6:114541927-114541928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564436597	chr6:114541972-114541973	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs528521393	chr6:114541998-114541999	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs149711860	chr6:114541999-114542000	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs559421061	chr6:114542023-114542024	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs530015455	chr6:114542145-114542146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547952785	chr6:114542166-114542167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569516754	chr6:114542167-114542168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373106892	chr6:114542174-114542175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530481868	chr6:114542188-114542189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139580570	chr6:114542245-114542246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376121045	chr6:114542254-114542255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570111175	chr6:114542301-114542302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77659608	chr6:114542346-114542347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78548548	chr6:114542444-114542445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375617235	chr6:114542491-114542492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553615454	chr6:114542519-114542520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377014765	chr6:114542552-114542553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35077219	chr6:114542582-114542583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73767096	chr6:114542591-114542592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs534764121	chr6:114542610-114542611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557558736	chr6:114542624-114542625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58249373	chr6:114542678-114542679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs371623498	chr6:114542700-114542701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114593607	chr6:114542709-114542710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
Leukemia	18688285	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
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	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
Urothelial carcinoma	21177765	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114518200-114546600	Weak transcription	HepG2	liver
2	chr6:114534400-114576000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:114538400-114549000	Weak transcription	Psoas Muscle	Psoas
4	chr6:114539000-114561200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr6:114540600-114543400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr6:114540800-114543800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:114540800-114544400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:114540800-114552400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:114540800-114561000	Weak transcription	HSMMtube	muscle
10	chr6:114541000-114544000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr6:114543400-114543600	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr6:114543600-114543800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr6:114543800-114544000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr6:114543800-114546400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr6:114544000-114544400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr6:114544000-114545000	Enhancers	HUES48 Cell Line	embryonic stem cell

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