Variant report

Variant	esv3373835
Chromosome Location	chr6:66607280-66639991
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 148 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148278228	chr6:66609852-66609853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369602340	chr6:66609895-66609896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532347112	chr6:66609909-66609910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561043301	chr6:66609964-66609965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575480875	chr6:66609976-66609977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529716026	chr6:66609982-66609983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549460819	chr6:66609989-66609990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1353874	chr6:66609996-66609997	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs9453479	chr6:66610017-66610018	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs552066074	chr6:66610021-66610022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141306891	chr6:66610027-66610028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1353873	chr6:66610049-66610050	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs183066608	chr6:66610069-66610070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1353872	chr6:66610076-66610077	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs537590812	chr6:66610219-66610220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9363483	chr6:66610269-66610270	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs577345687	chr6:66610314-66610315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539811959	chr6:66610315-66610316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544182733	chr6:66610347-66610348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553653729	chr6:66610394-66610395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150796080	chr6:66610400-66610401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556965026	chr6:66622653-66622654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576754935	chr6:66622751-66622752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9453501	chr6:66622815-66622816	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs553257249	chr6:66622830-66622831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573094883	chr6:66622868-66622869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542011410	chr6:66622880-66622881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs5876993	chr6:66622906-66622907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs397937940	chr6:66622909-66622910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs71268352	chr6:66622910-66622911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34103153	chr6:66622920-66622921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1938094	chr6:66622921-66622922	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs147325615	chr6:66622952-66622953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564543984	chr6:66622953-66622954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12214948	chr6:66633603-66633604	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs552651970	chr6:66633618-66633619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186363092	chr6:66633668-66633669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528791504	chr6:66633671-66633672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs80188754	chr6:66633675-66633676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568661935	chr6:66633687-66633688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373637757	chr6:66633723-66633724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188788639	chr6:66633759-66633760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6939062	chr6:66633781-66633782	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs569438406	chr6:66633804-66633805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371562586	chr6:66633910-66633911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6927036	chr6:66633911-66633912	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs558000742	chr6:66633916-66633917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558561205	chr6:66633917-66633918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544160563	chr6:66633918-66633919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571903520	chr6:66633933-66633934	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	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
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66609800-66610400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr6:66622600-66623000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:66633600-66634000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:66633600-66634000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:66634000-66634400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr6:66634000-66634800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:66634400-66636000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr6:66634800-66635000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr6:66635000-66635400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:66635400-66635800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr6:66635600-66636000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr6:66635600-66636000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:66635600-66636200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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