Variant report

Variant	nsv1032301
Chromosome Location	chr6:66079541-66175631
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:66158867..66160946-chr6:66172650..66174788,2	K562	blood:
2	chr6:66097248..66097748-chr7:48217360..48217884,2	MCF-7	breast:
3	chr6:66158867..66160946-chr6:66172650..66174788,2	K562	blood:
4	chr6:66078369..66080351-chr6:66082016..66084974,2	K562	blood:
5	chr6:66078369..66080351-chr6:66082016..66084974,2	K562	blood:

Extended variants
information (count: 878 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:878 , 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	rs185357925	chr6:66095823-66095824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190135503	chr6:66095828-66095829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569635523	chr6:66095847-66095848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146858566	chr6:66095872-66095873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6921968	chr6:66095907-66095908	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs182305365	chr6:66095911-66095912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114540674	chr6:66095951-66095952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548349427	chr6:66095956-66095957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574836350	chr6:66095967-66095968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543659405	chr6:66096004-66096005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9354235	chr6:66096011-66096012	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs71646067	chr6:66096075-66096076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145422218	chr6:66096081-66096082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577629728	chr6:66096130-66096131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528798838	chr6:66096148-66096149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75163628	chr6:66096150-66096151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564903998	chr6:66096181-66096182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527278849	chr6:66096182-66096183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534470951	chr6:66096193-66096194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540978317	chr6:66096202-66096203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139612643	chr6:66096206-66096207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185747246	chr6:66096244-66096245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188122181	chr6:66096257-66096258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9345616	chr6:66096273-66096274	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs144347458	chr6:66096276-66096277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9345617	chr6:66096277-66096278	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs180878803	chr6:66096293-66096294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34422988	chr6:66096299-66096300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534718265	chr6:66096301-66096302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs71002304	chr6:66096309-66096310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs28631876	chr6:66096310-66096311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201411328	chr6:66096311-66096312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374309168	chr6:66096325-66096326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146578856	chr6:66096359-66096360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149126805	chr6:66096407-66096408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557305292	chr6:66096431-66096432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373213317	chr6:66096465-66096466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557625920	chr6:66096506-66096507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577493958	chr6:66096516-66096517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185282700	chr6:66096611-66096612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553709378	chr6:66096618-66096619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9342472	chr6:66096622-66096623	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs369347054	chr6:66096629-66096630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540689758	chr6:66096761-66096762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs16896632	chr6:66096784-66096785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574481751	chr6:66096822-66096823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190192062	chr6:66096890-66096891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34569665	chr6:66096891-66096892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs398001835	chr6:66096898-66096899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528606884	chr6:66096908-66096909	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Cancer	20164919	CNVD
Retinitis pigmentosa	21519034	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66095800-66097200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr6:66096600-66097000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:66099200-66099600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:66108200-66109200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:66109200-66110000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:66110000-66110200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:66120200-66120600	Enhancers	HepG2	liver
8	chr6:66124200-66124400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:66124400-66125000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:66125000-66127800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:66125200-66127800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:66126000-66126200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:66126000-66127000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr6:66126200-66133200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:66126400-66127400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:66133200-66135000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:66155800-66156400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:66156400-66158600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:66157000-66160800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr6:66157400-66158200	Enhancers	Brain Cingulate Gyrus	brain
21	chr6:66157400-66160600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr6:66157600-66158200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr6:66157600-66158400	Enhancers	Brain Substantia Nigra	brain
24	chr6:66157600-66160600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr6:66157600-66160600	Enhancers	Brain Hippocampus Middle	brain
26	chr6:66157800-66160400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr6:66157800-66160600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:66158000-66160800	Enhancers	Fetal Brain Male	brain
29	chr6:66158200-66158400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr6:66158200-66160400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr6:66158400-66158600	Weak transcription	Brain Substantia Nigra	brain
32	chr6:66158600-66159000	Active TSS	Brain Substantia Nigra	brain
33	chr6:66158600-66160000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:66158800-66159200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:66158800-66159200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr6:66158800-66159200	Enhancers	Brain Germinal Matrix	brain
37	chr6:66159200-66160200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:66159200-66160200	Weak transcription	Brain Germinal Matrix	brain
39	chr6:66159600-66159800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr6:66160200-66160400	Enhancers	Brain Germinal Matrix	brain
41	chr6:66160200-66160600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:66160200-66160800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr6:66160400-66160800	Enhancers	H9 Cell Line	embryonic stem cell
44	chr6:66160600-66160800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr6:66170400-66171400	Enhancers	K562	blood
46	chr6:66171000-66171400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr6:66171000-66171600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr6:66171000-66171600	Enhancers	Fetal Heart	heart
49	chr6:66175000-66175400	Active TSS	Sigmoid Colon	Sigmoid Colon

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