Variant report

Variant	nsv886138
Chromosome Location	chr6:69865641-69924282
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:69887408..69889888-chr6:69893862..69895368,2	K562	blood:
2	chr6:69887408..69889888-chr6:69893862..69895368,2	K562	blood:
3	chr6:69910768..69912301-chr6:69927077..69929055,2	K562	blood:
4	chr6:69861062..69862637-chr6:69865151..69866778,2	K562	blood:
5	chr6:69587193..69588031-chr6:69865072..69865822,2	MCF-7	breast:
6	chr6:69859676..69862637-chr6:69865151..69866904,3	K562	blood:
7	chr6:69549740..69550662-chr6:69865141..69865963,2	MCF-7	breast:

Extended variants
information (count: 1988 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1988 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3799046	chr6:69865641-69865642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376709705	chr6:69865643-69865644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545754424	chr6:69865670-69865671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78928761	chr6:69865685-69865686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565415257	chr6:69865694-69865695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562296331	chr6:69865703-69865704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183120682	chr6:69865715-69865716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544365436	chr6:69865751-69865752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564025682	chr6:69865756-69865757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532998739	chr6:69865781-69865782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73745969	chr6:69865783-69865784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs368455389	chr6:69865788-69865789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560063807	chr6:69865808-69865809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529175312	chr6:69865814-69865815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548847669	chr6:69865842-69865843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188307754	chr6:69865849-69865850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531574396	chr6:69865861-69865862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531398143	chr6:69865946-69865947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371329429	chr6:69865952-69865953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570866005	chr6:69865957-69865958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528607670	chr6:69865974-69865975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73467770	chr6:69866015-69866016	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs376661767	chr6:69866043-69866044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566850868	chr6:69866061-69866062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148075280	chr6:69866079-69866080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs314209	chr6:69866107-69866108	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs314208	chr6:69866117-69866118	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs141846453	chr6:69866138-69866139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575214732	chr6:69866139-69866140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146495513	chr6:69866140-69866141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577683513	chr6:69866178-69866179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2050918	chr6:69866184-69866185	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs314207	chr6:69866222-69866223	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs139115776	chr6:69866297-69866298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575350890	chr6:69866332-69866333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192459151	chr6:69866337-69866338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111749904	chr6:69866401-69866402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183850049	chr6:69866435-69866436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562445913	chr6:69866457-69866458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531461055	chr6:69866465-69866466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551302742	chr6:69866466-69866467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571392853	chr6:69866524-69866525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533294614	chr6:69866526-69866527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564048272	chr6:69866545-69866546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188863766	chr6:69866575-69866576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535848942	chr6:69866579-69866580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143145052	chr6:69866608-69866609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs59209510	chr6:69866613-69866614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs192360023	chr6:69866618-69866619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558093802	chr6:69866645-69866646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Prostate cancer	16573809	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
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
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	21098271	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69856400-69874000	Weak transcription	Brain Angular Gyrus	brain
2	chr6:69860800-69876200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr6:69865000-69866000	Weak transcription	K562	blood
4	chr6:69866000-69866600	Enhancers	K562	blood
5	chr6:69869600-69872400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:69872400-69873200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:69872600-69875200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr6:69872800-69873000	Enhancers	Brain Anterior Caudate	brain
9	chr6:69872800-69873600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:69872800-69875400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:69873000-69874000	Weak transcription	Brain Anterior Caudate	brain
12	chr6:69873400-69875200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr6:69873600-69873800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr6:69873600-69874600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:69873600-69874800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr6:69873600-69874800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:69873600-69875200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr6:69873800-69874000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr6:69873800-69875400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr6:69874000-69874200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr6:69874000-69874200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:69874000-69874600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:69874000-69874600	Enhancers	Brain Angular Gyrus	brain
24	chr6:69874000-69874600	Enhancers	Brain Anterior Caudate	brain
25	chr6:69874000-69874800	Enhancers	H9 Cell Line	embryonic stem cell
26	chr6:69874000-69874800	Enhancers	Right Ventricle	heart
27	chr6:69874200-69874800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr6:69874200-69877600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:69874400-69875000	Enhancers	Brain Substantia Nigra	brain
30	chr6:69874600-69875000	Enhancers	Brain Germinal Matrix	brain
31	chr6:69874600-69875400	Weak transcription	Brain Anterior Caudate	brain
32	chr6:69874600-69876400	Weak transcription	Brain Angular Gyrus	brain
33	chr6:69874800-69875400	Enhancers	Brain Hippocampus Middle	brain
34	chr6:69875000-69876000	Weak transcription	Brain Germinal Matrix	brain
35	chr6:69875000-69876400	Weak transcription	Brain Substantia Nigra	brain
36	chr6:69875400-69876200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr6:69875400-69876200	Enhancers	Brain Anterior Caudate	brain
38	chr6:69875400-69876600	Weak transcription	Brain Hippocampus Middle	brain
39	chr6:69876000-69877200	Enhancers	Brain Germinal Matrix	brain
40	chr6:69876000-69877400	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr6:69876200-69876400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr6:69876200-69876800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr6:69876200-69877000	Weak transcription	Brain Anterior Caudate	brain
44	chr6:69876400-69876800	Enhancers	Brain Angular Gyrus	brain
45	chr6:69876400-69877200	Enhancers	Brain Cingulate Gyrus	brain
46	chr6:69876400-69877200	Enhancers	Brain Substantia Nigra	brain
47	chr6:69876600-69876800	Enhancers	Brain Hippocampus Middle	brain
48	chr6:69876800-69877000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:69876800-69889800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr6:69877000-69877200	Enhancers	Brain Anterior Caudate	brain

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