Variant report

Variant	esv3419533
Chromosome Location	chr6:5852882-5853328
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563344503	chr6:5852898-5852899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145146626	chr6:5852918-5852919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200662436	chr6:5852929-5852930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545972302	chr6:5852957-5852958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574179169	chr6:5852965-5852966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34888838	chr6:5852972-5852973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs189821242	chr6:5852973-5852974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376277638	chr6:5852987-5852988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113671430	chr6:5852996-5852997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182082844	chr6:5853002-5853003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139016632	chr6:5853030-5853031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562333423	chr6:5853060-5853061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187579036	chr6:5853081-5853082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550193537	chr6:5853087-5853088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543742508	chr6:5853125-5853126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576596431	chr6:5853157-5853158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540062239	chr6:5853165-5853166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148969957	chr6:5853174-5853175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114327322	chr6:5853194-5853195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370647075	chr6:5853222-5853223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534301515	chr6:5853230-5853231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9504556	chr6:5853252-5853253	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567970205	chr6:5853302-5853303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543201972	chr6:5853315-5853316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546089912	chr6:5853318-5853319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Chronic lymphocytic leukemia	21546498	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
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5852000-5855800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:5852200-5856000	Weak transcription	Brain Angular Gyrus	brain
3	chr6:5852200-5856000	Weak transcription	Brain Hippocampus Middle	brain
4	chr6:5852200-5856200	Weak transcription	Brain Germinal Matrix	brain
5	chr6:5852200-5856400	Weak transcription	Fetal Brain Female	brain
6	chr6:5852200-5865600	Weak transcription	Primary T cells from cord blood	blood
7	chr6:5852400-5853000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr6:5852400-5856000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:5852400-5856200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:5852400-5865400	Weak transcription	Spleen	Spleen
11	chr6:5852600-5853800	Weak transcription	Fetal Brain Male	brain

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