Variant report

Variant	esv3342656
Chromosome Location	chr6:12996716-12998714
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186237343	chr6:12996719-12996720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188785567	chr6:12996819-12996820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369230754	chr6:12996859-12996860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561025097	chr6:12996894-12996895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181544444	chr6:12996912-12996913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549328528	chr6:12996940-12996941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569315918	chr6:12997035-12997036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540680756	chr6:12997050-12997051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538310298	chr6:12997076-12997077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551837526	chr6:12997078-12997079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565794464	chr6:12997120-12997121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144913343	chr6:12997123-12997124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555185001	chr6:12997125-12997126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186248118	chr6:12997126-12997127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537744088	chr6:12997150-12997151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35914459	chr6:12997179-12997180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs57450190	chr6:12997206-12997207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532529873	chr6:12997252-12997253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144702350	chr6:12997255-12997256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546255726	chr6:12997258-12997259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559571641	chr6:12997287-12997288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573336179	chr6:12997288-12997289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190652409	chr6:12997311-12997312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376259740	chr6:12997352-12997353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561149759	chr6:12997393-12997394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529893358	chr6:12997482-12997483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531611521	chr6:12997581-12997582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183674544	chr6:12997597-12997598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113709226	chr6:12997608-12997609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565222315	chr6:12997620-12997621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369456200	chr6:12997641-12997642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531957167	chr6:12997854-12997855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551800789	chr6:12997868-12997869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530698271	chr6:12997929-12997930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565627518	chr6:12997937-12997938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550825869	chr6:12997996-12997997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567366402	chr6:12998015-12998016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534724568	chr6:12998039-12998040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146690005	chr6:12998141-12998142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9473188	chr6:12998161-12998162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs537705521	chr6:12998163-12998164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111302823	chr6:12998195-12998196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561582941	chr6:12998204-12998205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71562461	chr6:12998213-12998214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557672933	chr6:12998271-12998272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577640184	chr6:12998276-12998277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539840305	chr6:12998277-12998278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145474217	chr6:12998312-12998313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573217501	chr6:12998313-12998314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148022270	chr6:12998314-12998315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Metastatic melanoma	18483359	CNVD
Breast cancer	21990379	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12979600-13001800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:12982600-13002400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:12988800-13006000	Weak transcription	Aorta	Aorta
4	chr6:12993800-13002000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:12995400-12998400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr6:12995600-13004400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:12997200-12997400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:12997400-13011000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:12998400-13000600	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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