Variant report

Variant	nsv823406
Chromosome Location	chr6:5569236-5569941
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182751427	chr6:5569258-5569259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558203347	chr6:5569288-5569289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149576318	chr6:5569305-5569306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534553226	chr6:5569322-5569323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552458659	chr6:5569347-5569348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117371232	chr6:5569349-5569350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377367341	chr6:5569354-5569355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534006642	chr6:5569393-5569394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368913885	chr6:5569423-5569424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563680375	chr6:5569442-5569443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35999608	chr6:5569472-5569473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187484634	chr6:5569532-5569533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9504437	chr6:5569534-5569535	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs564449361	chr6:5569572-5569573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74923792	chr6:5569581-5569582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113477851	chr6:5569640-5569641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144310023	chr6:5569643-5569644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148714547	chr6:5569644-5569645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs60484538	chr6:5569668-5569669	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs183640983	chr6:5569689-5569690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs386696514	chr6:5569701-5569702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200258132	chr6:5569703-5569704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575597736	chr6:5569715-5569716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116819460	chr6:5569738-5569739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570496320	chr6:5569750-5569751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534716239	chr6:5569771-5569772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529307835	chr6:5569790-5569791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552896804	chr6:5569802-5569803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574536652	chr6:5569804-5569805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535763278	chr6:5569829-5569830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557261467	chr6:5569844-5569845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575585726	chr6:5569906-5569907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Pancreatic cancer	17952125	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5538000-5573600	Weak transcription	Left Ventricle	heart
2	chr6:5551600-5575200	Weak transcription	Primary B cells from cord blood	blood
3	chr6:5562800-5569800	Weak transcription	Psoas Muscle	Psoas
4	chr6:5565200-5576600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:5565200-5583200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:5567000-5575200	Weak transcription	Primary T cells from cord blood	blood
7	chr6:5567400-5572800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr6:5568600-5569800	Weak transcription	HepG2	liver
9	chr6:5568800-5570200	Enhancers	Right Atrium	heart
10	chr6:5569000-5571200	Enhancers	GM12878-XiMat	blood
11	chr6:5569600-5570000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:5569800-5570000	Enhancers	Psoas Muscle	Psoas
13	chr6:5569800-5570200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:5569800-5571200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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