Variant report

Variant	esv3472129
Chromosome Location	chr6:11444275-11444724
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9368707	chr6:11444309-11444310	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs578131989	chr6:11444324-11444325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540524953	chr6:11444345-11444346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34828509	chr6:11444350-11444351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370753655	chr6:11444354-11444355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576671857	chr6:11444375-11444376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560888055	chr6:11444383-11444384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs202099049	chr6:11444384-11444385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528064956	chr6:11444391-11444392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542506934	chr6:11444395-11444396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369309957	chr6:11444404-11444405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180703268	chr6:11444407-11444408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185327767	chr6:11444413-11444414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555519169	chr6:11444473-11444474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376632472	chr6:11444478-11444479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572389959	chr6:11444480-11444481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369723837	chr6:11444497-11444498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530496958	chr6:11444501-11444502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550278518	chr6:11444504-11444505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570504472	chr6:11444509-11444510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539664487	chr6:11444529-11444530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546566910	chr6:11444554-11444555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191073429	chr6:11444560-11444561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535459034	chr6:11444570-11444571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564264722	chr6:11444574-11444575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575724033	chr6:11444588-11444589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538299767	chr6:11444599-11444600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375001438	chr6:11444604-11444605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs578108404	chr6:11444640-11444641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181457941	chr6:11444642-11444643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141382827	chr6:11444648-11444649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533221625	chr6:11444658-11444659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574306678	chr6:11444699-11444700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373126502	chr6:11444720-11444721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Melanoma	20688739	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11442400-11445000	Enhancers	Primary B cells from peripheral blood	blood
2	chr6:11442800-11446000	Enhancers	Primary B cells from cord blood	blood
3	chr6:11443800-11449200	Weak transcription	HepG2	liver
4	chr6:11444600-11446000	Enhancers	GM12878-XiMat	blood

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