Variant report

Variant	nsv886305
Chromosome Location	chr6:80433732-80495689
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:80440419..80442094-chr6:80446012..80448631,2	MCF-7	breast:
2	chr6:80440419..80442094-chr6:80446012..80448631,2	MCF-7	breast:
3	chr6:80487640..80488609-chr6:80577520..80578268,3	MCF-7	breast:
4	chr6:80487168..80488775-chr6:80523270..80524422,9	MCF-7	breast:
5	chr6:80481025..80482615-chr6:80488324..80491118,2	MCF-7	breast:
6	chr6:80471735..80472653-chr6:80523715..80524291,2	MCF-7	breast:
7	chr6:80433702..80435313-chr6:80435730..80438231,2	K562	blood:
8	chr6:80488349..80490250-chr6:80492634..80494857,2	MCF-7	breast:
9	chr6:80465546..80468077-chr6:80483987..80486479,2	MCF-7	breast:
10	chr6:80438279..80440983-chr6:80442338..80445148,3	K562	blood:
11	chr6:80487449..80488333-chr6:80577575..80578144,3	MCF-7	breast:
12	chr6:80438688..80441399-chr6:80441778..80444665,2	MCF-7	breast:
13	chr6:80433702..80435313-chr6:80435730..80438231,2	K562	blood:
14	chr6:80465546..80468077-chr6:80483987..80486479,2	MCF-7	breast:
15	chr6:80471814..80472343-chr6:80803616..80804186,2	MCF-7	breast:
16	chr6:80487430..80488393-chr6:80577490..80578546,7	K562	blood:
17	chr6:80487847..80488706-chr6:80578916..80579523,2	MCF-7	breast:
18	chr6:80444712..80445403-chr8:142396594..142397125,2	K562	blood:
19	chr6:80487310..80489251-chr6:80525318..80527015,2	MCF-7	breast:
20	chr6:80419693..80422143-chr6:80449094..80451969,2	K562	blood:
21	chr6:80438279..80440983-chr6:80442338..80444280,2	K562	blood:
22	chr6:80481025..80482615-chr6:80488324..80491118,2	MCF-7	breast:
23	chr6:80472166..80472697-chr6:80523383..80524280,2	K562	blood:
24	chr6:80488032..80490000-chr6:80496422..80499072,2	K562	blood:
25	chr6:80438279..80440983-chr6:80442338..80444280,2	K562	blood:
26	chr6:80429798..80432416-chr6:80444324..80446522,2	MCF-7	breast:
27	chr6:80438688..80441399-chr6:80441778..80444665,2	MCF-7	breast:
28	chr6:80487463..80488809-chr6:80523025..80524264,5	K562	blood:
29	chr6:80488349..80490250-chr6:80492634..80494857,2	MCF-7	breast:
30	chr6:80488189..80489092-chr6:80579221..80580068,2	K562	blood:
31	chr6:80490962..80493469-chr6:80499629..80501695,2	K562	blood:
32	chr6:80438279..80440983-chr6:80442338..80445148,3	K562	blood:

No data

Extended variants
information (count: 895 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:895 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574371514	chr6:80434200-80434201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78595499	chr6:80434226-80434227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115623810	chr6:80434269-80434270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577470592	chr6:80434284-80434285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546417563	chr6:80434319-80434320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77843823	chr6:80434330-80434331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576593839	chr6:80434353-80434354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541985275	chr6:80434358-80434359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562082689	chr6:80434394-80434395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376982540	chr6:80434427-80434428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79700970	chr6:80434452-80434453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532318062	chr6:80434467-80434468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551939107	chr6:80434471-80434472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147127081	chr6:80434555-80434556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537519462	chr6:80434587-80434588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547996411	chr6:80434594-80434595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115195682	chr6:80434601-80434602	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188060021	chr6:80434614-80434615	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73478254	chr6:80434624-80434625	Bivalent/Poised TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs577605235	chr6:80434646-80434647	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540168325	chr6:80434702-80434703	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556771289	chr6:80434714-80434715	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371698800	chr6:80434739-80434740	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114314268	chr6:80434748-80434749	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75401601	chr6:80434753-80434754	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6942089	chr6:80434879-80434880	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs555588710	chr6:80434906-80434907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192417762	chr6:80434931-80434932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77417610	chr6:80434950-80434951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12174092	chr6:80434964-80434965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564180114	chr6:80434983-80434984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532253487	chr6:80434986-80434987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374018163	chr6:80435001-80435002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545715341	chr6:80435002-80435003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562308088	chr6:80435031-80435032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531416015	chr6:80435089-80435090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548224670	chr6:80435169-80435170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568062789	chr6:80435181-80435182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371368041	chr6:80435185-80435186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184830508	chr6:80435190-80435191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187246580	chr6:80435215-80435216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192173502	chr6:80435218-80435219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138289274	chr6:80435239-80435240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9359389	chr6:80435285-80435286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375309459	chr6:80435286-80435287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6919714	chr6:80435287-80435288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9443690	chr6:80435288-80435289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs386407674	chr6:80435289-80435290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs386407675	chr6:80435306-80435307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs70977788	chr6:80435310-80435311	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80434200-80435800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:80434600-80434800	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:80434600-80435000	Enhancers	Brain Cingulate Gyrus	brain
4	chr6:80440600-80441400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:80441000-80441600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:80442200-80442600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:80442400-80442600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:80443200-80443400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:80445600-80446600	Enhancers	HUVEC	blood vessel
10	chr6:80446000-80446800	Enhancers	Fetal Kidney	kidney
11	chr6:80446400-80446600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:80446400-80446800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:80446400-80446800	Enhancers	Brain Hippocampus Middle	brain
14	chr6:80446400-80446800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr6:80446400-80446800	Enhancers	Brain Substantia Nigra	brain
16	chr6:80446400-80446800	Enhancers	Fetal Intestine Small	intestine
17	chr6:80446400-80446800	Enhancers	Osteobl	bone
18	chr6:80446400-80447200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:80446600-80446800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:80446600-80446800	Enhancers	Brain Anterior Caudate	brain
21	chr6:80446600-80446800	Enhancers	Fetal Brain Female	brain
22	chr6:80446600-80446800	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr6:80446600-80447000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:80446600-80447200	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr6:80446600-80447600	Flanking Active TSS	HUVEC	blood vessel
26	chr6:80446800-80447000	Flanking Active TSS	Fetal Kidney	kidney
27	chr6:80446800-80447000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr6:80446800-80447000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr6:80446800-80447200	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr6:80446800-80447200	Flanking Active TSS	Brain Substantia Nigra	brain
31	chr6:80446800-80447200	Active TSS	Duodenum Mucosa	Duodenum
32	chr6:80446800-80447200	Flanking Active TSS	Fetal Brain Female	brain
33	chr6:80446800-80447400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:80446800-80447400	Active TSS	Brain Angular Gyrus	brain
35	chr6:80446800-80447400	Active TSS	Brain Cingulate Gyrus	brain
36	chr6:80446800-80447400	Active TSS	Brain Hippocampus Middle	brain
37	chr6:80446800-80447400	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr6:80446800-80447400	Active TSS	Rectal Smooth Muscle	rectum
39	chr6:80446800-80447400	Active TSS	Osteobl	bone
40	chr6:80446800-80447600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:80446800-80447600	Active TSS	K562	blood
42	chr6:80447000-80447200	Active TSS	Fetal Kidney	kidney
43	chr6:80447000-80447200	Enhancers	Left Ventricle	heart
44	chr6:80447000-80447400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:80447000-80447400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:80447000-80447400	Enhancers	Aorta	Aorta
47	chr6:80447000-80447400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr6:80447000-80447400	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr6:80447000-80447400	Enhancers	Esophagus	oesophagus
50	chr6:80447000-80447400	Enhancers	Fetal Brain Male	brain

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