Variant report

Variant	nsv933382
Chromosome Location	chr6:76596109-76599626
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	MAFK	chr6:76599441-76599731	HepG2	liver:	n/a	n/a
2	MAFK	chr6:76599550-76599620	IMR90	lung:	n/a	n/a
3	MAFK	chr6:76599437-76599709	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
MYO6	TF binding region

Extended variants
information (count: 139 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147513086	chr6:76596136-76596137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35909642	chr6:76596142-76596143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529051768	chr6:76596161-76596162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3839372	chr6:76596167-76596168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs397704501	chr6:76596168-76596169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3798431	chr6:76596220-76596221	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs72654793	chr6:76596289-76596290	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533064552	chr6:76596318-76596319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551744870	chr6:76596354-76596355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34507716	chr6:76596355-76596356	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs78810476	chr6:76596356-76596357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115226441	chr6:76596357-76596358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs17800625	chr6:76596367-76596368	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs567389862	chr6:76596387-76596388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535998693	chr6:76596388-76596389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554083222	chr6:76596394-76596395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566303921	chr6:76596421-76596422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112597191	chr6:76596570-76596571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546798003	chr6:76596571-76596572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558060494	chr6:76596573-76596574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs55662069	chr6:76596587-76596588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs121912561	chr6:76596598-76596599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397517047	chr6:76596601-76596602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141001041	chr6:76596604-76596605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142423106	chr6:76596605-76596606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74807875	chr6:76596614-76596615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369048132	chr6:76596647-76596648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150876010	chr6:76596648-76596649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139542573	chr6:76596669-76596670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs60970824	chr6:76596688-76596689	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs397517048	chr6:76596719-76596720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2295936	chr6:76596728-76596729	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs2295937	chr6:76596731-76596732	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs116151844	chr6:76596795-76596796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111493322	chr6:76596844-76596845	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs117909229	chr6:76596876-76596877	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs569446011	chr6:76596878-76596879	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs547828644	chr6:76596879-76596880	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs530353179	chr6:76596906-76596907	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs548357633	chr6:76596957-76596958	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs549001224	chr6:76596958-76596959	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs115015775	chr6:76596969-76596970	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs528166445	chr6:76597004-76597005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546721153	chr6:76597013-76597014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566120935	chr6:76597073-76597074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56006932	chr6:76597082-76597083	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs551627011	chr6:76597131-76597132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533614743	chr6:76597135-76597136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184922474	chr6:76597183-76597184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191043671	chr6:76597197-76597198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76543000-76615000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:76544400-76603800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:76562400-76599800	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:76563400-76602800	Weak transcription	Small Intestine	intestine
5	chr6:76566200-76604600	Weak transcription	Right Ventricle	heart
6	chr6:76567000-76604400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:76567600-76598600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr6:76567600-76604200	Weak transcription	NHLF	lung
9	chr6:76573000-76597800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:76573000-76624000	Weak transcription	Placenta	Placenta
11	chr6:76573200-76604200	Weak transcription	Colonic Mucosa	Colon
12	chr6:76573600-76606200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:76573800-76607200	Weak transcription	Gastric	stomach
14	chr6:76573800-76608400	Weak transcription	Esophagus	oesophagus
15	chr6:76574400-76632600	Weak transcription	Spleen	Spleen
16	chr6:76576000-76604000	Weak transcription	Fetal Brain Female	brain
17	chr6:76577200-76624600	Weak transcription	Fetal Kidney	kidney
18	chr6:76583400-76606200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr6:76583800-76603000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:76583800-76624600	Weak transcription	Pancreas	Pancrea
21	chr6:76584000-76605600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr6:76584200-76608400	Weak transcription	Aorta	Aorta
23	chr6:76584200-76629400	Weak transcription	Ovary	ovary
24	chr6:76584400-76596400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr6:76584400-76623800	Weak transcription	Lung	lung
26	chr6:76584600-76596600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr6:76584800-76596400	Weak transcription	Brain Angular Gyrus	brain
28	chr6:76584800-76598200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr6:76584800-76615200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr6:76584800-76644600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:76585000-76608200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr6:76585800-76608000	Weak transcription	NH-A	brain
33	chr6:76585800-76624000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr6:76585800-76624400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:76585800-76626800	Weak transcription	Left Ventricle	heart
36	chr6:76585800-76644600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:76586000-76597600	Weak transcription	Fetal Stomach	stomach
38	chr6:76586000-76627600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:76586200-76624400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr6:76586400-76607800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr6:76587600-76623800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr6:76589000-76603200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr6:76591600-76603200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr6:76592000-76606000	Weak transcription	Adipose Nuclei	Adipose
45	chr6:76592200-76605400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr6:76592600-76624400	Weak transcription	Osteobl	bone
47	chr6:76592800-76599800	Weak transcription	HMEC	breast
48	chr6:76592800-76600000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr6:76592800-76601800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:76592800-76606200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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