Variant report

Variant	nsv604651
Chromosome Location	chr6:128434273-128441606
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: 238 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:238 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565114270	chr6:128434293-128434294	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs189363627	chr6:128434341-128434342	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs111321910	chr6:128434392-128434393	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs562579124	chr6:128434401-128434402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529711371	chr6:128434521-128434522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548249568	chr6:128434667-128434668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567037447	chr6:128434669-128434670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527270035	chr6:128434695-128434696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528016684	chr6:128434764-128434765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181223794	chr6:128434765-128434766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530295457	chr6:128434834-128434835	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142532849	chr6:128434845-128434846	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575652566	chr6:128434916-128434917	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146636062	chr6:128434926-128434927	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184919846	chr6:128434929-128434930	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6938199	chr6:128434932-128434933	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs113495762	chr6:128434935-128434936	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554168440	chr6:128434942-128434943	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75608362	chr6:128434980-128434981	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534065107	chr6:128435000-128435001	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140446174	chr6:128435005-128435006	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4364497	chr6:128435039-128435040	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs556439520	chr6:128435149-128435150	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113538182	chr6:128435220-128435221	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72983948	chr6:128435303-128435304	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs199967708	chr6:128435307-128435308	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574620136	chr6:128435418-128435419	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542925139	chr6:128435419-128435420	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150394459	chr6:128435448-128435449	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560067457	chr6:128435449-128435450	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527307361	chr6:128435459-128435460	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111769138	chr6:128435474-128435475	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552798287	chr6:128435488-128435489	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564629515	chr6:128435489-128435490	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531788235	chr6:128435522-128435523	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550000341	chr6:128435535-128435536	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138656254	chr6:128435536-128435537	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535579337	chr6:128435555-128435556	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149333833	chr6:128435578-128435579	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566029686	chr6:128435590-128435591	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539458283	chr6:128435651-128435652	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368331836	chr6:128435698-128435699	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558767871	chr6:128435712-128435713	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573033571	chr6:128435723-128435724	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577251264	chr6:128435724-128435725	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538024667	chr6:128435726-128435727	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370997908	chr6:128435767-128435768	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79863372	chr6:128435769-128435770	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556422060	chr6:128435805-128435806	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574708206	chr6:128435818-128435819	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

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	chr6:128419800-128434800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:128419800-128455600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:128425000-128452600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr6:128425200-128435200	Weak transcription	Gastric	stomach
7	chr6:128428000-128452000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:128432200-128448200	Weak transcription	Primary B cells from cord blood	blood
9	chr6:128433400-128434400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr6:128433600-128434400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:128433600-128434400	Active TSS	Primary T cells fromperipheralblood	blood
12	chr6:128433600-128434400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr6:128433600-128434400	Active TSS	Adipose Nuclei	Adipose
14	chr6:128433600-128434400	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr6:128433600-128434400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr6:128433600-128434400	Active TSS	Right Atrium	heart
17	chr6:128433600-128434400	Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr6:128433800-128434400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:128433800-128434400	Active TSS	Colon Smooth Muscle	Colon
20	chr6:128433800-128434400	Flanking Active TSS	Fetal Heart	heart
21	chr6:128433800-128434400	Flanking Active TSS	Fetal Lung	lung
22	chr6:128433800-128434400	Enhancers	Fetal Stomach	stomach
23	chr6:128433800-128434400	Active TSS	Stomach Smooth Muscle	stomach
24	chr6:128433800-128441000	Weak transcription	Pancreas	Pancrea
25	chr6:128434000-128434400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr6:128434000-128434400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:128434000-128434400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:128434200-128434400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:128434200-128434400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:128434200-128434400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr6:128434200-128434400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr6:128434200-128434400	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr6:128434200-128434400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:128434200-128434400	Active TSS	Brain Angular Gyrus	brain
35	chr6:128434200-128434400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr6:128434200-128434400	Enhancers	Brain Substantia Nigra	brain
37	chr6:128434200-128434400	Active TSS	Duodenum Mucosa	Duodenum
38	chr6:128434200-128434400	Enhancers	Fetal Intestine Large	intestine
39	chr6:128434200-128434400	Enhancers	Fetal Intestine Small	intestine
40	chr6:128434200-128434400	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr6:128434200-128434400	Enhancers	HSMM	muscle
42	chr6:128434200-128434400	Flanking Active TSS	NHDF-Ad	bronchial
43	chr6:128434200-128434400	Flanking Active TSS	Osteobl	bone
44	chr6:128434200-128435400	Weak transcription	Left Ventricle	heart
45	chr6:128434200-128435400	Weak transcription	Ovary	ovary
46	chr6:128434200-128435800	Enhancers	Liver	Liver
47	chr6:128434200-128436200	Weak transcription	Right Ventricle	heart
48	chr6:128434200-128437800	Weak transcription	Aorta	Aorta
49	chr6:128434200-128439000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr6:128434200-128439200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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