Variant report

Variant	nsv970728
Chromosome Location	chr6:69426786-69430815
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:69345001..69346732-chr6:69426662..69428369,2	K562	blood:
2	chr6:69423760..69426080-chr6:69427890..69430012,2	K562	blood:
3	chr6:69365593..69367286-chr6:69425025..69427900,2	K562	blood:
4	chr6:69348325..69348840-chr6:69428482..69429102,2	K562	blood:
5	chr6:69426489..69429415-chr6:69449508..69452167,3	K562	blood:
6	chr6:69427276..69429730-chr6:69482240..69484850,2	K562	blood:
7	chr6:69417656..69421802-chr6:69423180..69427758,4	K562	blood:
8	chr6:69428185..69430149-chr6:69436142..69437737,2	K562	blood:
9	chr6:69423520..69425895-chr6:69426993..69429775,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135298	chromatin interactions

Extended variants
information (count: 159 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184432310	chr6:69426806-69426807	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs567764600	chr6:69426864-69426865	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs2802676	chr6:69426869-69426870	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556299288	chr6:69426901-69426902	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs563647975	chr6:69426932-69426933	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs576660447	chr6:69426971-69426972	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs9446053	chr6:69426974-69426975	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs559106496	chr6:69426986-69426987	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs73463909	chr6:69427006-69427007	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs145255309	chr6:69427021-69427022	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs560619863	chr6:69427091-69427092	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs72897202	chr6:69427093-69427094	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543388232	chr6:69427096-69427097	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563163857	chr6:69427102-69427103	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543159045	chr6:69427117-69427118	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs74533966	chr6:69427132-69427133	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs2746135	chr6:69427161-69427162	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs563138261	chr6:69427162-69427163	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs149173917	chr6:69427172-69427173	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs73463911	chr6:69427234-69427235	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs548427938	chr6:69427249-69427250	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs145097463	chr6:69427270-69427271	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs531339066	chr6:69427355-69427356	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs536778954	chr6:69427365-69427366	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs550129543	chr6:69427366-69427367	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs138984185	chr6:69427376-69427377	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs374089399	chr6:69427378-69427379	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs34168044	chr6:69427429-69427430	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs547568014	chr6:69427487-69427488	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs539312436	chr6:69427501-69427502	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs558947334	chr6:69427519-69427520	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs142206748	chr6:69427527-69427528	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs190184044	chr6:69427547-69427548	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs554774803	chr6:69427567-69427568	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs574172622	chr6:69427577-69427578	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs543198587	chr6:69427622-69427623	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs115746595	chr6:69427678-69427679	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs181526235	chr6:69427701-69427702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs187565345	chr6:69427808-69427809	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs190201751	chr6:69427914-69427915	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs145897985	chr6:69427946-69427947	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs16900148	chr6:69427974-69427975	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542031804	chr6:69428012-69428013	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs180954668	chr6:69428052-69428053	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs376696543	chr6:69428065-69428066	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs561893998	chr6:69428082-69428083	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs185282902	chr6:69428085-69428086	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs60761802	chr6:69428112-69428113	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs190438017	chr6:69428120-69428121	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs182609643	chr6:69428153-69428154	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69420200-69428600	Weak transcription	Fetal Brain Female	brain
2	chr6:69421400-69436400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:69421800-69428200	Weak transcription	Brain Anterior Caudate	brain
4	chr6:69423600-69428000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr6:69425600-69428200	Weak transcription	Brain Angular Gyrus	brain
6	chr6:69425800-69427800	Weak transcription	Fetal Heart	heart
7	chr6:69425800-69428000	Enhancers	K562	blood
8	chr6:69425800-69428600	Weak transcription	Brain Substantia Nigra	brain
9	chr6:69426200-69426800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:69426200-69427000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:69426400-69427000	Enhancers	Primary hematopoietic stem cells	blood
12	chr6:69427800-69428800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:69427800-69430200	Enhancers	Fetal Heart	heart
14	chr6:69428000-69428600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:69428000-69428600	Enhancers	NHDF-Ad	bronchial
16	chr6:69428000-69428800	Enhancers	Fetal Stomach	stomach
17	chr6:69428000-69428800	Flanking Active TSS	K562	blood
18	chr6:69428000-69429000	Enhancers	Brain Cingulate Gyrus	brain
19	chr6:69428000-69430000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:69428200-69428600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:69428200-69428800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr6:69428200-69428800	Enhancers	Brain Anterior Caudate	brain
23	chr6:69428200-69429000	Enhancers	Brain Angular Gyrus	brain
24	chr6:69428200-69429000	Enhancers	Fetal Lung	lung
25	chr6:69428200-69429400	Enhancers	Brain Germinal Matrix	brain
26	chr6:69428400-69429000	Enhancers	NH-A	brain
27	chr6:69428400-69429200	Enhancers	Fetal Brain Male	brain
28	chr6:69428600-69428800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:69428600-69428800	Enhancers	Brain Hippocampus Middle	brain
30	chr6:69428600-69428800	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr6:69428600-69428800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr6:69428600-69429000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:69428600-69429000	Enhancers	Brain Substantia Nigra	brain
34	chr6:69428600-69429000	Enhancers	Fetal Brain Female	brain
35	chr6:69428600-69429200	Flanking Active TSS	NHDF-Ad	bronchial
36	chr6:69428800-69429000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:69428800-69429000	Enhancers	K562	blood
38	chr6:69428800-69435000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr6:69429000-69429400	Weak transcription	K562	blood
40	chr6:69429000-69432800	Weak transcription	Fetal Lung	lung
41	chr6:69429000-69435400	Weak transcription	Brain Angular Gyrus	brain
42	chr6:69429000-69435400	Weak transcription	Fetal Brain Female	brain
43	chr6:69429200-69434000	Weak transcription	NHDF-Ad	bronchial
44	chr6:69429200-69435400	Weak transcription	Fetal Brain Male	brain
45	chr6:69429400-69430200	Enhancers	K562	blood
46	chr6:69430200-69432800	Weak transcription	Fetal Heart	heart
47	chr6:69430200-69432800	Weak transcription	K562	blood

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