Variant report

Variant	esv275552
Chromosome Location	chr6:118878758-118887215
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:118886471..118886972-chr6:118940114..118940818,2	MCF-7	breast:
2	chr6:118886433..118887071-chr6:119121474..119122076,2	MCF-7	breast:
3	chr6:118886488..118887139-chr6:118939697..118940461,3	MCF-7	breast:
4	chr6:118886432..118887044-chr6:118901651..118902441,2	MCF-7	breast:

Extended variants
information (count: 370 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563285819	chr6:118878864-118878865	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs547642029	chr6:118878871-118878872	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs567551592	chr6:118878904-118878905	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs9489439	chr6:118878921-118878922	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs577666240	chr6:118878930-118878931	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs550070689	chr6:118878943-118878944	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs569904265	chr6:118878950-118878951	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs539030389	chr6:118878952-118878953	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs558770387	chr6:118878983-118878984	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs117871046	chr6:118879001-118879002	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs573699405	chr6:118879008-118879009	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs538310941	chr6:118879015-118879016	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs554711272	chr6:118879058-118879059	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs112347844	chr6:118879129-118879130	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs542707531	chr6:118879142-118879143	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs569675186	chr6:118879176-118879177	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs376203536	chr6:118879212-118879213	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11753886	chr6:118879229-118879230	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557646161	chr6:118879266-118879267	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181631175	chr6:118879270-118879271	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140199745	chr6:118879303-118879304	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545036017	chr6:118879336-118879337	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376700055	chr6:118879349-118879350	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564954163	chr6:118879361-118879362	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527417516	chr6:118879372-118879373	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572272134	chr6:118879393-118879394	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184220066	chr6:118879456-118879457	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs189359130	chr6:118879459-118879460	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs1288839	chr6:118879586-118879587	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs549766946	chr6:118879666-118879667	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs73526173	chr6:118879695-118879696	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs561225550	chr6:118879731-118879732	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs148557744	chr6:118879737-118879738	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs552567662	chr6:118879738-118879739	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs373940496	chr6:118879753-118879754	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs13213100	chr6:118879764-118879765	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs565817611	chr6:118879781-118879782	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs73526175	chr6:118879782-118879783	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs367703760	chr6:118879789-118879790	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs371775061	chr6:118879790-118879791	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs201748173	chr6:118879814-118879815	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78353255	chr6:118879815-118879816	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79363640	chr6:118879817-118879818	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs66790551	chr6:118879820-118879821	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs497251	chr6:118879821-118879822	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs441037	chr6:118879823-118879824	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372510571	chr6:118879824-118879825	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113205166	chr6:118879825-118879826	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112551087	chr6:118879827-118879828	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201021531	chr6:118879829-118879830	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	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
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118845200-118880000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr6:118847800-118895400	Weak transcription	Pancreas	Pancrea
3	chr6:118852600-118895200	Weak transcription	Primary B cells from cord blood	blood
4	chr6:118859400-118880200	Weak transcription	Brain Hippocampus Middle	brain
5	chr6:118864400-118895200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:118867000-118878800	Active TSS	Right Atrium	heart
7	chr6:118868600-118894000	Weak transcription	Fetal Stomach	stomach
8	chr6:118869400-118880400	Active TSS	Right Ventricle	heart
9	chr6:118872200-118886600	Weak transcription	Fetal Kidney	kidney
10	chr6:118872200-118895200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr6:118872400-118884000	Weak transcription	Brain Angular Gyrus	brain
12	chr6:118872400-118886200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:118872400-118886600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:118872800-118879000	ZNF genes & repeats	Fetal Heart	heart
15	chr6:118872800-118895200	Weak transcription	HMEC	breast
16	chr6:118873000-118886400	Weak transcription	Adipose Nuclei	Adipose
17	chr6:118873200-118886400	Weak transcription	Fetal Lung	lung
18	chr6:118873600-118880400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr6:118873800-118880000	Weak transcription	NH-A	brain
20	chr6:118873800-118895600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:118874000-118879000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:118874200-118880000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr6:118874600-118879000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:118874600-118880000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr6:118874600-118880200	Weak transcription	NHLF	lung
26	chr6:118874600-118886600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr6:118874600-118886600	Weak transcription	HSMMtube	muscle
28	chr6:118874600-118895200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:118874600-118895200	Weak transcription	K562	blood
30	chr6:118875000-118880000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:118875000-118889200	Weak transcription	Placenta	Placenta
32	chr6:118875200-118880200	Weak transcription	NHDF-Ad	bronchial
33	chr6:118875200-118885600	Weak transcription	HSMM	muscle
34	chr6:118875400-118880000	Weak transcription	Thymus	Thymus
35	chr6:118875400-118895200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:118875600-118880000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:118875600-118883600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:118875600-118886600	Weak transcription	Fetal Muscle Leg	muscle
39	chr6:118875800-118878800	Strong transcription	Fetal Thymus	thymus
40	chr6:118875800-118879000	Strong transcription	Dnd41	blood
41	chr6:118876800-118878800	Enhancers	Rectal Smooth Muscle	rectum
42	chr6:118877200-118879000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:118877200-118880600	Active TSS	Aorta	Aorta
44	chr6:118877400-118879600	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr6:118877600-118879800	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr6:118877800-118883400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:118877800-118889200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr6:118877800-118895200	Weak transcription	Gastric	stomach
49	chr6:118878000-118880000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr6:118878200-118880000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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