Variant report

Variant	nsv1033949
Chromosome Location	chr6:81731577-81872706
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 2071 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:2071 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538228528	chr6:81731604-81731605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs375856428	chr6:81731605-81731606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs549134271	chr6:81731618-81731619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs575244238	chr6:81731635-81731636	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs184247614	chr6:81731688-81731689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs554426526	chr6:81731704-81731705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs11757064	chr6:81731712-81731713	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs137864477	chr6:81731728-81731729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs540504915	chr6:81731746-81731747	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs11757076	chr6:81731765-81731766	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528529369	chr6:81731766-81731767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs200177767	chr6:81731772-81731773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs386703153	chr6:81731774-81731775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs11752497	chr6:81731776-81731777	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs139084245	chr6:81731800-81731801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs145596493	chr6:81731801-81731802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs7750118	chr6:81731804-81731805	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs530351014	chr6:81731814-81731815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs546921026	chr6:81731845-81731846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs11757539	chr6:81731858-81731859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs566811458	chr6:81731879-81731880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs538672257	chr6:81731924-81731925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs558218270	chr6:81731938-81731939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs12525064	chr6:81731961-81731962	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs9344085	chr6:81732007-81732008	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs554769399	chr6:81732041-81732042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs574712489	chr6:81732043-81732044	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs555072134	chr6:81732048-81732049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs186609847	chr6:81732054-81732055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs545106326	chr6:81732064-81732065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs191462988	chr6:81732069-81732070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs34121515	chr6:81732098-81732099	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs543803965	chr6:81732117-81732118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs144882001	chr6:81732182-81732183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs575711280	chr6:81732212-81732213	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs9344086	chr6:81732221-81732222	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561027721	chr6:81732224-81732225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs185513156	chr6:81732229-81732230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs145722118	chr6:81732235-81732236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs546784366	chr6:81732239-81732240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs13203894	chr6:81732282-81732283	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs13203901	chr6:81732295-81732296	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs113264285	chr6:81732296-81732297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs112160002	chr6:81732316-81732317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs79276310	chr6:81732332-81732333	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs13219965	chr6:81732362-81732363	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs192862388	chr6:81732408-81732409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs553962930	chr6:81732422-81732423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs185430116	chr6:81732426-81732427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs142782642	chr6:81732431-81732432	ZNF genes & repeats	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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81730800-81732600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:81732800-81735800	Weak transcription	Right Ventricle	heart
3	chr6:81735800-81736200	Enhancers	Right Ventricle	heart
4	chr6:81735800-81736200	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr6:81741000-81741400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr6:81741000-81741400	Enhancers	Ovary	ovary
7	chr6:81741000-81741600	Enhancers	Colon Smooth Muscle	Colon
8	chr6:81741000-81741800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr6:81741000-81741800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:81759000-81759600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr6:81759000-81760400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:81759200-81759800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:81763600-81763800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:81764000-81764600	Active TSS	NHDF-Ad	bronchial
15	chr6:81770000-81770400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr6:81770000-81770800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:81770800-81774000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr6:81773400-81774000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr6:81773400-81774000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:81773800-81774000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:81773800-81774000	ZNF genes & repeats	Aorta	Aorta
22	chr6:81773800-81774600	Enhancers	H9 Cell Line	embryonic stem cell
23	chr6:81774000-81774400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr6:81774000-81781000	Weak transcription	Aorta	Aorta
25	chr6:81774400-81778000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr6:81778000-81779200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr6:81778200-81779200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr6:81780800-81781600	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr6:81781000-81781200	Enhancers	Aorta	Aorta
30	chr6:81785400-81785800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:81785400-81786200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr6:81785600-81785800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr6:81785600-81785800	Enhancers	Brain Cingulate Gyrus	brain
34	chr6:81785600-81786000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:81785600-81786200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:81785600-81786200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:81785600-81786200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr6:81785600-81786200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr6:81785600-81786200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr6:81785600-81786200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:81786200-81800200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr6:81794600-81795000	Enhancers	Fetal Heart	heart
43	chr6:81794600-81795200	Enhancers	Fetal Lung	lung
44	chr6:81795200-81796800	Weak transcription	Fetal Lung	lung
45	chr6:81796200-81797000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:81796200-81797600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:81796400-81797600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr6:81796800-81797400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr6:81796800-81797400	Enhancers	Fetal Lung	lung
50	chr6:81796800-81797600	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links