Variant report

Variant	nsv970667
Chromosome Location	chr6:128622520-128630617
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 311 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150313381	chr6:128622523-128622524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371312519	chr6:128622531-128622532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs80218940	chr6:128622556-128622557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373160370	chr6:128622563-128622564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72967046	chr6:128622568-128622569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs188286085	chr6:128622571-128622572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551714280	chr6:128622639-128622640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76186878	chr6:128622656-128622657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565928531	chr6:128622658-128622659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530753261	chr6:128622792-128622793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs137922822	chr6:128622799-128622800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192828170	chr6:128622805-128622806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113940301	chr6:128622808-128622809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565853711	chr6:128622863-128622864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112586991	chr6:128622869-128622870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570918689	chr6:128622887-128622888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538912999	chr6:128622909-128622910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185462223	chr6:128623010-128623011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189230482	chr6:128623085-128623086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575414393	chr6:128623089-128623090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116601104	chr6:128623115-128623116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555037584	chr6:128623141-128623142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143016500	chr6:128623156-128623157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181983821	chr6:128623250-128623251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565240234	chr6:128623253-128623254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532572180	chr6:128623274-128623275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545300493	chr6:128623286-128623287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139385303	chr6:128623300-128623301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554750875	chr6:128623303-128623304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113491764	chr6:128623309-128623310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548949578	chr6:128623310-128623311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112679035	chr6:128623342-128623343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370564703	chr6:128623349-128623350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528131392	chr6:128623361-128623362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369581970	chr6:128623391-128623392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376236723	chr6:128623404-128623405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570884099	chr6:128623415-128623416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372897548	chr6:128623416-128623417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374524540	chr6:128623435-128623436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112858504	chr6:128623440-128623441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201360507	chr6:128623468-128623469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12193722	chr6:128623532-128623533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs534525238	chr6:128623537-128623538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150631774	chr6:128623591-128623592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554818770	chr6:128623637-128623638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184757117	chr6:128623652-128623653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534007680	chr6:128623664-128623665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572679180	chr6:128623755-128623756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139703401	chr6:128623758-128623759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548316736	chr6:128623759-128623760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Neurocytoma	17123091	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21958427	CNVD
Mental retardation	17847001	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21390271	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128593000-128631600	Weak transcription	Left Ventricle	heart
2	chr6:128596800-128623600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:128597800-128625000	Weak transcription	HSMM	muscle
4	chr6:128602400-128632400	Weak transcription	Pancreas	Pancrea
5	chr6:128603000-128642800	Weak transcription	Fetal Intestine Large	intestine
6	chr6:128604400-128630600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:128604400-128633200	Weak transcription	Fetal Thymus	thymus
8	chr6:128605800-128627400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:128605800-128631200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:128606200-128630600	Weak transcription	Fetal Heart	heart
11	chr6:128609000-128646000	Weak transcription	NH-A	brain
12	chr6:128610800-128643200	Weak transcription	NHEK	skin
13	chr6:128612800-128630400	Weak transcription	Brain Hippocampus Middle	brain
14	chr6:128613200-128640800	Weak transcription	HepG2	liver
15	chr6:128614200-128624000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:128621600-128623800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:128621800-128649000	Weak transcription	HSMMtube	muscle
18	chr6:128622200-128628800	Weak transcription	NHDF-Ad	bronchial
19	chr6:128622200-128631400	Weak transcription	Fetal Intestine Small	intestine
20	chr6:128623600-128623800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:128623600-128624000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:128623600-128624200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:128623800-128624200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:128623800-128624600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:128623800-128625400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr6:128624000-128624200	Enhancers	Gastric	stomach
27	chr6:128624000-128624600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr6:128624000-128626000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:128624200-128625200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:128624600-128625200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:128624600-128626600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:128625000-128625400	Strong transcription	HSMM	muscle
33	chr6:128625200-128626000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:128625200-128642600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:128625400-128626000	Enhancers	Rectal Smooth Muscle	rectum
36	chr6:128625400-128627000	Weak transcription	HSMM	muscle
37	chr6:128626000-128629400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr6:128626000-128631800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:128626000-128643000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:128626200-128631600	Weak transcription	Lung	lung
41	chr6:128626200-128645800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr6:128626400-128626800	Enhancers	HUVEC	blood vessel
43	chr6:128626600-128641400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:128626800-128628800	Weak transcription	HUVEC	blood vessel
45	chr6:128627000-128627400	Enhancers	HSMM	muscle
46	chr6:128627000-128627800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:128627000-128627800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:128627000-128628000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:128627400-128627600	Weak transcription	HSMM	muscle
50	chr6:128627400-128627800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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