Variant report

Variant	nsv886321
Chromosome Location	chr6:81707510-81934605
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:81735393..81738316-chr6:81740944..81743334,2	K562	blood:
2	chr6:81713030..81715719-chr6:81717371..81719570,2	MCF-7	breast:
3	chr6:81731744..81734648-chr6:81746656..81748984,2	K562	blood:
4	chr6:81731744..81734648-chr6:81746656..81748984,2	K562	blood:
5	chr6:81735393..81738316-chr6:81740944..81743334,2	K562	blood:
6	chr21:46338970..46339822-chr6:81843315..81843996,2	MCF-7	breast:
7	chr6:81314911..81315522-chr6:81785483..81786072,2	MCF-7	breast:
8	chr6:81713030..81715719-chr6:81717371..81719570,2	MCF-7	breast:

No data

Extended variants
information (count: 3155 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:3155 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7744074	chr6:81707510-81707511	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185780934	chr6:81707517-81707518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs55908144	chr6:81707518-81707519	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs189814912	chr6:81707547-81707548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113543006	chr6:81707555-81707556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182023226	chr6:81707556-81707557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7744562	chr6:81707603-81707604	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs565482901	chr6:81707644-81707645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34352209	chr6:81707653-81707654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531087186	chr6:81707660-81707661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149129191	chr6:81707666-81707667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561600829	chr6:81707755-81707756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185436836	chr6:81707786-81707787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79923393	chr6:81707799-81707800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566124392	chr6:81707856-81707857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572070510	chr6:81707915-81707916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577147701	chr6:81707926-81707927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532119695	chr6:81707962-81707963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35520799	chr6:81707981-81707982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190292063	chr6:81708033-81708034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568717099	chr6:81708074-81708075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370730794	chr6:81708081-81708082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2028718	chr6:81708085-81708086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs568371798	chr6:81708111-81708112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371049421	chr6:81708123-81708124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533828343	chr6:81708137-81708138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34373778	chr6:81708184-81708185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs397885318	chr6:81708191-81708192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72624524	chr6:81708229-81708230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs573228675	chr6:81708292-81708293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146825124	chr6:81708324-81708325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559061021	chr6:81708328-81708329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs180767147	chr6:81708338-81708339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117999529	chr6:81708345-81708346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185211967	chr6:81708356-81708357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10943761	chr6:81708358-81708359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs11759444	chr6:81708377-81708378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs372007113	chr6:81708407-81708408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534467713	chr6:81708436-81708437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554091429	chr6:81708437-81708438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140609220	chr6:81708474-81708475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559720000	chr6:81708479-81708480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs58111399	chr6:81708484-81708485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34916931	chr6:81708519-81708520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs397888181	chr6:81708520-81708521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs16892651	chr6:81708538-81708539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs72905700	chr6:81708559-81708560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs2028719	chr6:81708591-81708592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs531284967	chr6:81708616-81708617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567823709	chr6:81708653-81708654	Weak transcription	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
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
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:215 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81707400-81707800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:81707800-81712400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:81712200-81713200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr6:81712400-81713600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:81727000-81727800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:81730800-81732600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:81732800-81735800	Weak transcription	Right Ventricle	heart
8	chr6:81735800-81736200	Enhancers	Right Ventricle	heart
9	chr6:81735800-81736200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr6:81741000-81741400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr6:81741000-81741400	Enhancers	Ovary	ovary
12	chr6:81741000-81741600	Enhancers	Colon Smooth Muscle	Colon
13	chr6:81741000-81741800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr6:81741000-81741800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:81759000-81759600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr6:81759000-81760400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:81759200-81759800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr6:81763600-81763800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:81764000-81764600	Active TSS	NHDF-Ad	bronchial
20	chr6:81770000-81770400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr6:81770000-81770800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr6:81770800-81774000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr6:81773400-81774000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr6:81773400-81774000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:81773800-81774000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:81773800-81774000	ZNF genes & repeats	Aorta	Aorta
27	chr6:81773800-81774600	Enhancers	H9 Cell Line	embryonic stem cell
28	chr6:81774000-81774400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr6:81774000-81781000	Weak transcription	Aorta	Aorta
30	chr6:81774400-81778000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr6:81778000-81779200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr6:81778200-81779200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr6:81780800-81781600	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr6:81781000-81781200	Enhancers	Aorta	Aorta
35	chr6:81785400-81785800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:81785400-81786200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr6:81785600-81785800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr6:81785600-81785800	Enhancers	Brain Cingulate Gyrus	brain
39	chr6:81785600-81786000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:81785600-81786200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:81785600-81786200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:81785600-81786200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr6:81785600-81786200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr6:81785600-81786200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr6:81785600-81786200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:81786200-81800200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr6:81794600-81795000	Enhancers	Fetal Heart	heart
48	chr6:81794600-81795200	Enhancers	Fetal Lung	lung
49	chr6:81795200-81796800	Weak transcription	Fetal Lung	lung
50	chr6:81796200-81797000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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