Variant report

Variant	esv3472047
Chromosome Location	chr6:5898314-5898983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5422389..5423223-chr6:5898415..5898938,2	MCF-7	breast:
2	chr6:5895870..5898322-chr6:5901003..5902860,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 100 )

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	rs12199406	chr6:5898358-5898359	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12193326	chr6:5898375-5898376	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs527294567	chr6:5898383-5898384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548837341	chr6:5898391-5898392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187248413	chr6:5898396-5898397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs71557593	chr6:5898450-5898451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78356399	chr6:5898621-5898622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531533117	chr6:5898669-5898670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549686220	chr6:5898697-5898698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10452676	chr6:5898715-5898716	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs578245978	chr6:5898730-5898731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538744379	chr6:5898747-5898748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547876137	chr6:5898751-5898752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115446505	chr6:5898779-5898780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144838744	chr6:5898831-5898832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555038688	chr6:5898839-5898840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537705207	chr6:5898875-5898876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192144524	chr6:5898887-5898888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576788300	chr6:5898891-5898892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537796839	chr6:5898912-5898913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376582430	chr6:5898913-5898914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558875244	chr6:5898914-5898915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577378882	chr6:5898950-5898951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75381504	chr6:5898978-5898979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs67655188	chr6:5898980-5898981	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	20688739	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5893000-5898400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:5893200-5899000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:5898200-5899800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:5898200-5900000	Enhancers	NHDF-Ad	bronchial
5	chr6:5898400-5898600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:5898400-5899200	Enhancers	Adipose Nuclei	Adipose
7	chr6:5898600-5898800	Enhancers	Pancreas	Pancrea
8	chr6:5898600-5899400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:5898800-5899000	Weak transcription	Pancreas	Pancrea

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