Variant report

Variant	esv3392101
Chromosome Location	chr6:121486553-121490451
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	chr6:121490346..121493740-chr6:121494679..121497011,3	K562	blood:
2	chr6:121490346..121492777-chr6:121495275..121497722,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200347408	chr6:121486612-121486613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201261775	chr6:121486617-121486618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149085201	chr6:121486786-121486787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147073240	chr6:121486983-121486984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201296968	chr6:121487079-121487080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199629493	chr6:121487190-121487191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200370760	chr6:121487375-121487376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201493071	chr6:121487474-121487475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201975741	chr6:121487615-121487616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199521800	chr6:121487640-121487641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200660129	chr6:121487648-121487649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368642544	chr6:121487862-121487863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201991628	chr6:121487931-121487932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199710517	chr6:121487940-121487941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368541612	chr6:121487961-121487962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200426078	chr6:121487989-121487990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200735254	chr6:121488088-121488089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201352237	chr6:121488229-121488230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201128008	chr6:121488307-121488308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs202213147	chr6:121488511-121488512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188785081	chr6:121488544-121488545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200908768	chr6:121488583-121488584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113863924	chr6:121488792-121488793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112412764	chr6:121488842-121488843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs228415	chr6:121488990-121488991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112825470	chr6:121489185-121489186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200991362	chr6:121489212-121489213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62443140	chr6:121489284-121489285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202203083	chr6:121489422-121489423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548686187	chr6:121489476-121489477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77278866	chr6:121489479-121489480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112166775	chr6:121489500-121489501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111797435	chr6:121489505-121489506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201206283	chr6:121489576-121489577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1776818	chr6:121489625-121489626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4333455	chr6:121489631-121489632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561900696	chr6:121489652-121489653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370830534	chr6:121489766-121489767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573773549	chr6:121489848-121489849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373298964	chr6:121489858-121489859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367937275	chr6:121489859-121489860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6931782	chr6:121489863-121489864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376259581	chr6:121489878-121489879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs59283869	chr6:121489880-121489881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117195784	chr6:121489896-121489897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554577434	chr6:121489921-121489922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200268361	chr6:121490005-121490006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550077598	chr6:121490009-121490010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570010852	chr6:121490034-121490035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193052494	chr6:121490080-121490081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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	21611746	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121473400-121499000	Weak transcription	Right Ventricle	heart
2	chr6:121474600-121508600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:121475600-121508600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:121478800-121535400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr6:121479000-121505000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:121479200-121502600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:121479600-121501400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:121480200-121502400	Weak transcription	Left Ventricle	heart
9	chr6:121480200-121504600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:121480200-121535600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr6:121480400-121505400	Weak transcription	Adipose Nuclei	Adipose
12	chr6:121480600-121501000	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:121480600-121502200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr6:121480800-121498600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:121480800-121499200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr6:121480800-121535400	Weak transcription	Fetal Intestine Large	intestine
17	chr6:121481000-121502600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr6:121481000-121535400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:121481400-121488400	Weak transcription	Primary B cells from cord blood	blood
20	chr6:121482200-121499200	Weak transcription	Dnd41	blood
21	chr6:121482200-121499400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr6:121482800-121498400	Weak transcription	Ovary	ovary
23	chr6:121482800-121499200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:121483800-121498200	Weak transcription	Primary T cells from cord blood	blood
25	chr6:121487400-121556000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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