Variant report

Variant	esv3382281
Chromosome Location	chr6:121054253-121056151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568687543	chr6:121054264-121054265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530993910	chr6:121054275-121054276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551116240	chr6:121054297-121054298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571180589	chr6:121054318-121054319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35277887	chr6:121054325-121054326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34797223	chr6:121054366-121054367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540090016	chr6:121054419-121054420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7771826	chr6:121054493-121054494	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs535080759	chr6:121054496-121054497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190619897	chr6:121054499-121054500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371049783	chr6:121054515-121054516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182839693	chr6:121054519-121054520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574610198	chr6:121054542-121054543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186429707	chr6:121054548-121054549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568243633	chr6:121054580-121054581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190881721	chr6:121054631-121054632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141086827	chr6:121054659-121054660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556946182	chr6:121054721-121054722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576730391	chr6:121054729-121054730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79642644	chr6:121054771-121054772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576240990	chr6:121054777-121054778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142357253	chr6:121054822-121054823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558965210	chr6:121054887-121054888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77932397	chr6:121054897-121054898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199515048	chr6:121054955-121054956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200818206	chr6:121054964-121054965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201557071	chr6:121054965-121054966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200153397	chr6:121054966-121054967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202045118	chr6:121054968-121054969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375641684	chr6:121054993-121054994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374393006	chr6:121054994-121054995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12208463	chr6:121055003-121055004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560335130	chr6:121055010-121055011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200314329	chr6:121055084-121055085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200571239	chr6:121055149-121055150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75193481	chr6:121055228-121055229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183650656	chr6:121055260-121055261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150280081	chr6:121055265-121055266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550895724	chr6:121055293-121055294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541257991	chr6:121055312-121055313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187903821	chr6:121055317-121055318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371681888	chr6:121055325-121055326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11967874	chr6:121055358-121055359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs566899768	chr6:121055372-121055373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77875018	chr6:121055376-121055377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368047302	chr6:121055394-121055395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549325348	chr6:121055400-121055401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537142854	chr6:121055430-121055431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114128197	chr6:121055468-121055469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138952696	chr6:121055470-121055471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121052800-121056600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:121054400-121054800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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