Variant report

Variant	nsv970140
Chromosome Location	chr6:70456399-70456899
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548894297	chr6:70456480-70456481	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372972965	chr6:70456481-70456482	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569162505	chr6:70456482-70456483	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187172455	chr6:70456490-70456491	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191879924	chr6:70456545-70456546	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544718001	chr6:70456550-70456551	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571164695	chr6:70456562-70456563	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376564129	chr6:70456568-70456569	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533502162	chr6:70456580-70456581	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553501200	chr6:70456589-70456590	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75457602	chr6:70456599-70456600	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs16868135	chr6:70456603-70456604	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs555658254	chr6:70456631-70456632	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139719806	chr6:70456661-70456662	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10498869	chr6:70456678-70456679	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs564761066	chr6:70456728-70456729	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs578071237	chr6:70456744-70456745	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9454881	chr6:70456783-70456784	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs6934751	chr6:70456820-70456821	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs529385379	chr6:70456860-70456861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529360851	chr6:70456881-70456882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	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
Breast cancer	22522925	CNVD
Gastric cancer	17229543	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70380800-70467800	Weak transcription	K562	blood
2	chr6:70405000-70468400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:70406600-70457400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:70429000-70462400	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:70429000-70467600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:70431400-70498600	Weak transcription	Ovary	ovary
7	chr6:70432000-70468200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:70432000-70470400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:70432000-70470400	Weak transcription	Gastric	stomach
10	chr6:70432000-70479800	Weak transcription	Pancreas	Pancrea
11	chr6:70432200-70480000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:70432600-70461600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:70435800-70498800	Weak transcription	Adipose Nuclei	Adipose
14	chr6:70436000-70457200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:70441200-70463400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr6:70442400-70498200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:70442400-70498400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:70443000-70468000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr6:70444800-70461000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr6:70445000-70458400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr6:70445200-70458800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr6:70445200-70458800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:70446000-70470400	Weak transcription	Psoas Muscle	Psoas
24	chr6:70446800-70456400	Weak transcription	Dnd41	blood
25	chr6:70447400-70459000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:70447800-70498400	Weak transcription	Placenta	Placenta
27	chr6:70448400-70458800	Weak transcription	Brain Anterior Caudate	brain
28	chr6:70448400-70470600	Weak transcription	Right Ventricle	heart
29	chr6:70448800-70489800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:70450600-70472000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr6:70450800-70487600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr6:70453800-70468600	Weak transcription	Small Intestine	intestine
33	chr6:70453800-70505600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:70454800-70457200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr6:70454800-70459000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:70454800-70459800	Weak transcription	HMEC	breast
37	chr6:70455000-70457600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr6:70455000-70458200	Strong transcription	Fetal Thymus	thymus
39	chr6:70455200-70457800	Strong transcription	GM12878-XiMat	blood
40	chr6:70455400-70456800	Strong transcription	Left Ventricle	heart
41	chr6:70455400-70457600	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr6:70455400-70458200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr6:70455400-70459400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:70455600-70456600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:70455600-70456600	Strong transcription	Fetal Kidney	kidney
46	chr6:70455600-70456600	Strong transcription	Stomach Smooth Muscle	stomach
47	chr6:70455600-70456800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
48	chr6:70455600-70457200	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr6:70455600-70457200	Strong transcription	Liver	Liver
50	chr6:70455600-70457200	Strong transcription	Fetal Brain Female	brain

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