Variant report

Variant	nsv966661
Chromosome Location	chr6:128316158-128322133
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:128306119..128308919-chr6:128317530..128320441,2	K562	blood:
2	chr6:128310427..128312557-chr6:128317983..128320683,2	MCF-7	breast:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PTPRK	hsa-miR-30a-5p	chr6:128321368-128321390

Extended variants
information (count: 256 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184854226	chr6:128316163-128316164	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1342646	chr6:128316229-128316230	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs79786444	chr6:128316233-128316234	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189331046	chr6:128316254-128316255	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140578679	chr6:128316284-128316285	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534200686	chr6:128316320-128316321	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544783047	chr6:128316321-128316322	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372366022	chr6:128316335-128316336	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138449444	chr6:128316357-128316358	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542365925	chr6:128316364-128316365	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560892112	chr6:128316375-128316376	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181985641	chr6:128316408-128316409	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200274380	chr6:128316415-128316416	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs202228755	chr6:128316424-128316425	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549236459	chr6:128316430-128316431	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539222959	chr6:128316435-128316436	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532905679	chr6:128316473-128316474	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367967037	chr6:128316474-128316475	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147279214	chr6:128316493-128316494	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569362384	chr6:128316499-128316500	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530162905	chr6:128316507-128316508	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139135615	chr6:128316538-128316539	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75659285	chr6:128316549-128316550	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533918229	chr6:128316565-128316566	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552180143	chr6:128316566-128316567	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571204551	chr6:128316567-128316568	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538587261	chr6:128316644-128316645	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567633729	chr6:128316654-128316655	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185122630	chr6:128316655-128316656	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376189050	chr6:128316667-128316668	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575347029	chr6:128316691-128316692	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201474367	chr6:128316720-128316721	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191059553	chr6:128316786-128316787	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572925158	chr6:128316809-128316810	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181236850	chr6:128316825-128316826	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564917557	chr6:128316827-128316828	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149360863	chr6:128316836-128316837	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77972571	chr6:128316963-128316964	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186741370	chr6:128316973-128316974	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113108652	chr6:128316999-128317000	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35608778	chr6:128317001-128317002	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530248387	chr6:128317006-128317007	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191483691	chr6:128317017-128317018	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144655904	chr6:128317172-128317173	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527826344	chr6:128317231-128317232	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78497450	chr6:128317243-128317244	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78707058	chr6:128317262-128317263	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182993186	chr6:128317270-128317271	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538004601	chr6:128317271-128317272	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556764673	chr6:128317299-128317300	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128288600-128321800	Weak transcription	Small Intestine	intestine
2	chr6:128289000-128431000	Weak transcription	Psoas Muscle	Psoas
3	chr6:128293600-128374400	Weak transcription	Pancreas	Pancrea
4	chr6:128294400-128330600	Weak transcription	NHDF-Ad	bronchial
5	chr6:128297400-128334000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:128298000-128352600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:128298200-128334600	Weak transcription	Fetal Heart	heart
8	chr6:128299000-128317200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:128300000-128317000	Weak transcription	Primary T cells from cord blood	blood
10	chr6:128300800-128326400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:128301000-128325200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr6:128302600-128319600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:128302600-128331400	Weak transcription	Gastric	stomach
14	chr6:128302800-128321600	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:128302800-128325400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr6:128302800-128327800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:128302800-128343800	Weak transcription	Ovary	ovary
18	chr6:128303000-128321800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:128303800-128320400	Weak transcription	Fetal Intestine Small	intestine
20	chr6:128304000-128329200	Weak transcription	Fetal Lung	lung
21	chr6:128304600-128327600	Weak transcription	Fetal Stomach	stomach
22	chr6:128304600-128328600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr6:128304800-128321600	Weak transcription	Brain Substantia Nigra	brain
24	chr6:128305200-128326200	Weak transcription	Osteobl	bone
25	chr6:128305200-128353000	Weak transcription	Left Ventricle	heart
26	chr6:128305800-128319000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr6:128306000-128329000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:128306000-128334000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr6:128306000-128343200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr6:128306800-128327800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:128307000-128317400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:128307000-128326200	Weak transcription	HMEC	breast
33	chr6:128307200-128327600	Weak transcription	Placenta	Placenta
34	chr6:128307200-128340800	Weak transcription	HSMMtube	muscle
35	chr6:128307400-128329000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:128307600-128317400	Weak transcription	NHEK	skin
37	chr6:128307600-128323600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr6:128307600-128325600	Weak transcription	Liver	Liver
39	chr6:128307800-128320400	Weak transcription	Aorta	Aorta
40	chr6:128307800-128370800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:128308200-128318200	Weak transcription	HepG2	liver
42	chr6:128308200-128326200	Weak transcription	HUVEC	blood vessel
43	chr6:128311600-128387200	Weak transcription	NH-A	brain
44	chr6:128311800-128316200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:128311800-128319000	Weak transcription	Fetal Intestine Large	intestine
46	chr6:128311800-128319800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:128311800-128378400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr6:128312000-128325800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr6:128312600-128317400	Weak transcription	Fetal Thymus	thymus
50	chr6:128312800-128325400	Weak transcription	HSMM	muscle

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