Variant report

Variant	nsv966627
Chromosome Location	chr6:71699692-71726851
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	chr6:71722191..71724941-chr6:71727638..71729245,2	K562	blood:
2	chr6:71715278..71718149-chr6:71720536..71722372,2	K562	blood:
3	chr6:71229960..71230522-chr6:71722211..71722968,2	MCF-7	breast:
4	chr6:71715278..71718149-chr6:71720536..71722372,2	K562	blood:
5	chr6:70930395..70931237-chr6:71722269..71722995,2	K562	blood:
6	chr6:71722335..71723101-chr6:72219479..72220477,2	MCF-7	breast:
7	chr6:71017248..71017943-chr6:71722265..71723230,2	MCF-7	breast:
8	chr6:71081318..71081957-chr6:71722040..71722957,3	MCF-7	breast:

No data

Extended variants
information (count: 1093 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1093 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367974592	chr6:71699771-71699772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368294062	chr6:71699855-71699856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4256396	chr6:71699856-71699857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs2347636	chr6:71699857-71699858	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs573659964	chr6:71699877-71699878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369590504	chr6:71699888-71699889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563202187	chr6:71699900-71699901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575067772	chr6:71699903-71699904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56291137	chr6:71699909-71699910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs2347635	chr6:71699928-71699929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs375844756	chr6:71699938-71699939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368749526	chr6:71699967-71699968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs60767172	chr6:71699968-71699969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs58481801	chr6:71699970-71699971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376020804	chr6:71699971-71699972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4610522	chr6:71699972-71699973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9446319	chr6:71699974-71699975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62403996	chr6:71699976-71699977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62403997	chr6:71699978-71699979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62403998	chr6:71699980-71699981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62403999	chr6:71699982-71699983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62404000	chr6:71699984-71699985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62404001	chr6:71699986-71699987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62404002	chr6:71699988-71699989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs66813635	chr6:71699989-71699990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374404156	chr6:71699990-71699991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58844097	chr6:71699997-71699998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62404003	chr6:71700005-71700006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544859916	chr6:71700044-71700045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527856872	chr6:71700049-71700050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78902580	chr6:71700070-71700071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs3034249	chr6:71700077-71700078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397709582	chr6:71700080-71700081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117298113	chr6:71700116-71700117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530784863	chr6:71700118-71700119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34494875	chr6:71700158-71700159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549335717	chr6:71700181-71700182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561159364	chr6:71700217-71700218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192555736	chr6:71700224-71700225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182720634	chr6:71700233-71700234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571822832	chr6:71700238-71700239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375600860	chr6:71700244-71700245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189031376	chr6:71700294-71700295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193126099	chr6:71700322-71700323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569595647	chr6:71700323-71700324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536574230	chr6:71700378-71700379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4400179	chr6:71700386-71700387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs73494521	chr6:71700428-71700429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs373099022	chr6:71700429-71700430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534664378	chr6:71700439-71700440	Weak transcription	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
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
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
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71695600-71716600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:71699400-71699800	Enhancers	Stomach Mucosa	stomach
3	chr6:71704600-71706000	Enhancers	Fetal Brain Male	brain
4	chr6:71704800-71705200	Enhancers	Fetal Lung	lung
5	chr6:71707200-71707400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:71707200-71708200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr6:71707400-71707800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:71707600-71708200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:71707600-71708400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:71707600-71708600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:71707800-71708200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:71707800-71708200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr6:71707800-71708200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:71707800-71708400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr6:71708000-71708200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:71715400-71716800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:71716600-71717000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
18	chr6:71717000-71721800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr6:71720000-71720200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:71721000-71721800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr6:71721200-71722400	Enhancers	Fetal Brain Male	brain
22	chr6:71721200-71722600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:71721200-71723200	Enhancers	Brain Germinal Matrix	brain
24	chr6:71721400-71722400	Enhancers	Fetal Brain Female	brain
25	chr6:71721400-71722600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:71721400-71722600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:71721400-71722600	Enhancers	Fetal Muscle Leg	muscle
28	chr6:71721400-71723000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:71721400-71723000	Enhancers	Fetal Lung	lung
30	chr6:71721600-71722000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr6:71721600-71722000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr6:71721600-71722000	Active TSS	Brain Anterior Caudate	brain
33	chr6:71721600-71722000	Enhancers	Brain Hippocampus Middle	brain
34	chr6:71721600-71722200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:71721600-71722400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr6:71721600-71722600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr6:71721600-71723200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr6:71721800-71722000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr6:71721800-71722400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr6:71721800-71722600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr6:71721800-71722600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr6:71721800-71722600	Enhancers	Fetal Kidney	kidney
43	chr6:71722000-71723200	Enhancers	Brain Anterior Caudate	brain
44	chr6:71722000-71724800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr6:71722400-71723600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr6:71722600-71724400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr6:71722600-71724400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr6:71722800-71723000	Enhancers	Brain Substantia Nigra	brain
49	chr6:71722800-71723000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr6:71722800-71723200	Enhancers	Liver	Liver

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