Variant report

Variant	nsv603620
Chromosome Location	chr6:69684850-69691596
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	chr6:69683147..69685406-chr6:69688911..69691251,2	K562	blood:
2	chr6:69682967..69685609-chr6:69690760..69692583,2	K562	blood:
3	chr6:69683147..69685406-chr6:69688911..69691251,2	K562	blood:
4	chr6:69688539..69691215-chr6:69691625..69694173,2	K562	blood:
5	chr6:69676667..69679537-chr6:69686722..69688400,2	K562	blood:
6	chr6:69682967..69685609-chr6:69690760..69692583,2	K562	blood:
7	chr6:69676667..69679065-chr6:69686722..69689222,2	K562	blood:
8	chr6:69685059..69685616-chr6:70439397..70440382,2	MCF-7	breast:

No data

Extended variants
information (count: 238 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:238 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2275209	chr6:69684850-69684851	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs45602231	chr6:69684916-69684917	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs183383643	chr6:69685026-69685027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370990683	chr6:69685084-69685085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201640715	chr6:69685098-69685099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536472658	chr6:69685104-69685105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143725366	chr6:69685122-69685123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369343391	chr6:69685141-69685142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375950923	chr6:69685152-69685153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148136685	chr6:69685184-69685185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558638503	chr6:69685200-69685201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187969124	chr6:69685217-69685218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368640990	chr6:69685219-69685220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368016771	chr6:69685248-69685249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190659375	chr6:69685252-69685253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563193875	chr6:69685398-69685399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75710318	chr6:69685408-69685409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543318958	chr6:69685425-69685426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555123552	chr6:69685458-69685459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150270776	chr6:69685473-69685474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112368730	chr6:69685484-69685485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73745905	chr6:69685535-69685536	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs62418301	chr6:69685543-69685544	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs544955061	chr6:69685564-69685565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182926663	chr6:69685586-69685587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139354896	chr6:69685629-69685630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143374654	chr6:69685683-69685684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530436166	chr6:69685752-69685753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550165725	chr6:69685759-69685760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117927290	chr6:69685760-69685761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539231536	chr6:69685779-69685780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187221232	chr6:69685796-69685797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565760598	chr6:69685818-69685819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534393244	chr6:69685823-69685824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554564980	chr6:69685934-69685935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192601966	chr6:69685944-69685945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574312301	chr6:69685968-69685969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543707321	chr6:69685969-69685970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556976013	chr6:69685970-69685971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576669183	chr6:69686013-69686014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558942975	chr6:69686023-69686024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545580341	chr6:69686049-69686050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147143833	chr6:69686139-69686140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114768035	chr6:69686144-69686145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184581999	chr6:69686145-69686146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111950739	chr6:69686189-69686190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529995528	chr6:69686199-69686200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577312281	chr6:69686207-69686208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113007681	chr6:69686300-69686301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570352313	chr6:69686306-69686307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69646000-69685000	Weak transcription	Fetal Lung	lung
2	chr6:69670200-69685000	Weak transcription	Brain Germinal Matrix	brain
3	chr6:69684200-69685000	Enhancers	Brain Substantia Nigra	brain
4	chr6:69684200-69685400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:69684200-69686000	Enhancers	Brain Hippocampus Middle	brain
6	chr6:69684200-69686200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:69684600-69685000	Enhancers	Brain Angular Gyrus	brain
8	chr6:69684600-69685400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:69684600-69686000	Enhancers	Brain Anterior Caudate	brain
10	chr6:69684600-69686000	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr6:69684600-69686000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:69684600-69686200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:69684600-69686200	Enhancers	Brain Cingulate Gyrus	brain
14	chr6:69684800-69685800	Enhancers	Fetal Brain Male	brain
15	chr6:69685000-69685800	Enhancers	Brain Germinal Matrix	brain
16	chr6:69685000-69685800	Weak transcription	Brain Substantia Nigra	brain
17	chr6:69685000-69686200	Enhancers	Fetal Lung	lung
18	chr6:69685000-69700000	Weak transcription	Brain Angular Gyrus	brain
19	chr6:69685200-69685600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:69685200-69685800	Enhancers	Fetal Kidney	kidney
21	chr6:69685400-69700400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:69685800-69686600	Enhancers	Brain Substantia Nigra	brain
23	chr6:69685800-69687200	Weak transcription	Brain Germinal Matrix	brain
24	chr6:69685800-69758800	Weak transcription	Fetal Brain Male	brain
25	chr6:69686000-69695400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:69686000-69700000	Weak transcription	Brain Hippocampus Middle	brain
27	chr6:69686000-69700400	Weak transcription	Brain Anterior Caudate	brain
28	chr6:69686000-69700600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr6:69686200-69686600	Weak transcription	Fetal Lung	lung
30	chr6:69686200-69687600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:69686200-69695200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr6:69686200-69703400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr6:69686600-69686800	Enhancers	Fetal Lung	lung
34	chr6:69686600-69700200	Weak transcription	Brain Substantia Nigra	brain
35	chr6:69686800-69706200	Weak transcription	Fetal Lung	lung
36	chr6:69687200-69687800	Enhancers	Brain Germinal Matrix	brain
37	chr6:69687600-69688400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:69687800-69700400	Weak transcription	Brain Germinal Matrix	brain
39	chr6:69688200-69721200	Weak transcription	Left Ventricle	heart
40	chr6:69688400-69693800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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