Variant report

Variant	nsv604652
Chromosome Location	chr6:128434932-128437370
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	chr6:128427870..128430111-chr6:128432750..128435472,2	MCF-7	breast:

Extended variants
information (count: 87 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6938199	chr6:128434932-128434933	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113495762	chr6:128434935-128434936	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554168440	chr6:128434942-128434943	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75608362	chr6:128434980-128434981	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534065107	chr6:128435000-128435001	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140446174	chr6:128435005-128435006	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4364497	chr6:128435039-128435040	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs556439520	chr6:128435149-128435150	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113538182	chr6:128435220-128435221	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72983948	chr6:128435303-128435304	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs199967708	chr6:128435307-128435308	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574620136	chr6:128435418-128435419	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542925139	chr6:128435419-128435420	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150394459	chr6:128435448-128435449	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560067457	chr6:128435449-128435450	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527307361	chr6:128435459-128435460	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111769138	chr6:128435474-128435475	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552798287	chr6:128435488-128435489	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564629515	chr6:128435489-128435490	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531788235	chr6:128435522-128435523	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550000341	chr6:128435535-128435536	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138656254	chr6:128435536-128435537	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535579337	chr6:128435555-128435556	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149333833	chr6:128435578-128435579	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566029686	chr6:128435590-128435591	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539458283	chr6:128435651-128435652	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368331836	chr6:128435698-128435699	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558767871	chr6:128435712-128435713	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573033571	chr6:128435723-128435724	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577251264	chr6:128435724-128435725	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538024667	chr6:128435726-128435727	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370997908	chr6:128435767-128435768	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79863372	chr6:128435769-128435770	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556422060	chr6:128435805-128435806	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574708206	chr6:128435818-128435819	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146266613	chr6:128435999-128436000	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528393610	chr6:128436018-128436019	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551319352	chr6:128436045-128436046	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141050238	chr6:128436059-128436060	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571962290	chr6:128436109-128436110	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189918592	chr6:128436124-128436125	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111742166	chr6:128436126-128436127	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564429351	chr6:128436154-128436155	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555313447	chr6:128436227-128436228	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181449201	chr6:128436244-128436245	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185868674	chr6:128436255-128436256	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544537361	chr6:128436275-128436276	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564730828	chr6:128436283-128436284	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530520522	chr6:128436365-128436366	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563200311	chr6:128436391-128436392	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Glioblastoma multiforme	21390271	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128404000-128438000	Weak transcription	Fetal Thymus	thymus
2	chr6:128411600-128445600	Weak transcription	HepG2	liver
3	chr6:128419800-128455600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:128425000-128452600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr6:128425200-128435200	Weak transcription	Gastric	stomach
6	chr6:128428000-128452000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:128432200-128448200	Weak transcription	Primary B cells from cord blood	blood
8	chr6:128433800-128441000	Weak transcription	Pancreas	Pancrea
9	chr6:128434200-128435400	Weak transcription	Left Ventricle	heart
10	chr6:128434200-128435400	Weak transcription	Ovary	ovary
11	chr6:128434200-128435800	Enhancers	Liver	Liver
12	chr6:128434200-128436200	Weak transcription	Right Ventricle	heart
13	chr6:128434200-128437800	Weak transcription	Aorta	Aorta
14	chr6:128434200-128439000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr6:128434200-128439200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:128434200-128439200	Weak transcription	NHLF	lung
17	chr6:128434200-128442800	Weak transcription	Thymus	Thymus
18	chr6:128434200-128444000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:128434400-128435000	Enhancers	Duodenum Mucosa	Duodenum
20	chr6:128434400-128435400	Weak transcription	Right Atrium	heart
21	chr6:128434400-128437800	Enhancers	Fetal Heart	heart
22	chr6:128434400-128439000	Weak transcription	NHDF-Ad	bronchial
23	chr6:128434400-128439200	Weak transcription	HSMM	muscle
24	chr6:128434400-128439200	Weak transcription	Osteobl	bone
25	chr6:128434400-128439400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:128434400-128439800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr6:128434400-128445600	Weak transcription	Fetal Intestine Small	intestine
28	chr6:128434400-128449400	Weak transcription	Brain Angular Gyrus	brain
29	chr6:128434400-128455800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:128434400-128456800	Weak transcription	Fetal Stomach	stomach
31	chr6:128434800-128436400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:128435000-128435200	Enhancers	Stomach Smooth Muscle	stomach
33	chr6:128435200-128435400	Enhancers	Gastric	stomach
34	chr6:128435400-128435600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:128435400-128435600	Enhancers	Left Ventricle	heart
36	chr6:128435400-128435600	Enhancers	Right Atrium	heart
37	chr6:128435400-128436000	Enhancers	Ovary	ovary
38	chr6:128435400-128436400	Enhancers	Placenta	Placenta
39	chr6:128435600-128436200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:128435600-128436200	Weak transcription	Right Atrium	heart
41	chr6:128435600-128455600	Weak transcription	Left Ventricle	heart
42	chr6:128435800-128440800	Weak transcription	Liver	Liver
43	chr6:128436200-128436400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:128436200-128436400	Enhancers	Right Atrium	heart
45	chr6:128436200-128436400	Enhancers	Right Ventricle	heart
46	chr6:128436400-128439200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:128436400-128439200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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