Variant report

Variant	esv34899
Chromosome Location	chr6:82090758-82161121
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1540 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1540 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9359486	chr6:82090758-82090759	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7771143	chr6:82090767-82090768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571613663	chr6:82090782-82090783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115726807	chr6:82090829-82090830	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs147522468	chr6:82090834-82090835	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs369636716	chr6:82090865-82090866	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs9359487	chr6:82090902-82090903	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs9359488	chr6:82090909-82090910	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs573514486	chr6:82090949-82090950	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs7754858	chr6:82090952-82090953	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs7754880	chr6:82090988-82090989	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs538730037	chr6:82091011-82091012	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs373885390	chr6:82091023-82091024	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs558416686	chr6:82091040-82091041	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs9361807	chr6:82091091-82091092	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs186285538	chr6:82091126-82091127	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs7755182	chr6:82091137-82091138	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs7755594	chr6:82091144-82091145	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs78678229	chr6:82091147-82091148	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs7755598	chr6:82091149-82091150	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs78457749	chr6:82091164-82091165	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs528360177	chr6:82091177-82091178	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs540164396	chr6:82091214-82091215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559906604	chr6:82091217-82091218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115276014	chr6:82091222-82091223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145697883	chr6:82091233-82091234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565243009	chr6:82091267-82091268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34592372	chr6:82091277-82091278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs397885747	chr6:82091283-82091284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530898011	chr6:82091290-82091291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191891517	chr6:82091292-82091293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554645363	chr6:82091318-82091319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368820638	chr6:82091362-82091363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574183043	chr6:82091396-82091397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182816076	chr6:82091438-82091439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547360272	chr6:82091441-82091442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188328758	chr6:82091467-82091468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538865185	chr6:82091481-82091482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375883351	chr6:82091493-82091494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9443904	chr6:82091550-82091551	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs11753135	chr6:82091577-82091578	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs190675797	chr6:82091581-82091582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372570341	chr6:82091638-82091639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9341883	chr6:82091661-82091662	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs76430511	chr6:82091703-82091704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574273020	chr6:82091720-82091721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540133444	chr6:82091724-82091725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182292697	chr6:82091742-82091743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571729119	chr6:82091747-82091748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576587930	chr6:82091757-82091758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Endometrioid adenocarcinoma	16974079	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
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
Acute lymphoblastic leukemia	17443227	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
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
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
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
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82088400-82090800	Enhancers	HepG2	liver
2	chr6:82089600-82092400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:82090400-82092600	Enhancers	Liver	Liver
4	chr6:82090600-82091800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:82090800-82091200	Flanking Active TSS	HepG2	liver
6	chr6:82091200-82093600	Enhancers	HepG2	liver
7	chr6:82092400-82093000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:82092400-82093000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr6:82092600-82093600	Enhancers	Fetal Heart	heart
10	chr6:82092800-82093800	Enhancers	Dnd41	blood
11	chr6:82093000-82096600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:82093600-82096400	Weak transcription	HepG2	liver
13	chr6:82096000-82096200	Enhancers	Adipose Nuclei	Adipose
14	chr6:82096200-82097000	Active TSS	Adipose Nuclei	Adipose
15	chr6:82096400-82097200	Enhancers	HepG2	liver
16	chr6:82096600-82096800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:82102000-82102400	ZNF genes & repeats	Dnd41	blood
18	chr6:82102200-82102600	ZNF genes & repeats	Aorta	Aorta
19	chr6:82102600-82111400	Weak transcription	Aorta	Aorta
20	chr6:82111400-82111600	Enhancers	HSMMtube	muscle
21	chr6:82111400-82111800	Enhancers	Ovary	ovary
22	chr6:82111400-82112000	Enhancers	Aorta	Aorta
23	chr6:82111400-82112000	Enhancers	NHLF	lung
24	chr6:82111400-82112600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:82111400-82112600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:82111400-82112600	Enhancers	Fetal Heart	heart
27	chr6:82111400-82112600	Enhancers	HSMM	muscle
28	chr6:82111400-82112800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr6:82111400-82112800	Enhancers	NH-A	brain
30	chr6:82111600-82112000	Flanking Active TSS	HSMMtube	muscle
31	chr6:82111600-82112200	Enhancers	Rectal Smooth Muscle	rectum
32	chr6:82111600-82112400	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr6:82111600-82112600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:82111600-82112600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:82111600-82112600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr6:82111600-82112600	Enhancers	Osteobl	bone
37	chr6:82111800-82112200	Enhancers	Adipose Nuclei	Adipose
38	chr6:82112000-82112400	Enhancers	NHDF-Ad	bronchial
39	chr6:82112000-82112800	Enhancers	HSMMtube	muscle
40	chr6:82112000-82115800	Weak transcription	Aorta	Aorta
41	chr6:82115800-82116200	Active TSS	Aorta	Aorta
42	chr6:82123000-82123600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:82123200-82123800	Enhancers	Ovary	ovary
44	chr6:82128800-82129400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:82135600-82136200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:82150400-82153000	Enhancers	Placenta	Placenta
47	chr6:82152800-82153200	Enhancers	Stomach Mucosa	stomach
48	chr6:82153200-82154800	Weak transcription	Stomach Mucosa	stomach
49	chr6:82154800-82157800	Enhancers	Stomach Mucosa	stomach
50	chr6:82155000-82156400	Enhancers	Pancreatic Islets	Pancreatic Islet

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