Variant report

Variant	nsv520873
Chromosome Location	chr6:85824323-85834204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:85824628..85826619-chr6:85828988..85830771,2	K562	blood:
2	chr6:85821898..85823467-chr6:85826385..85828686,2	K562	blood:
3	chr6:85816818..85819694-chr6:85825674..85828256,2	K562	blood:
4	chr6:85824628..85826619-chr6:85828988..85830771,2	K562	blood:

Extended variants
information (count: 223 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:223 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10485304	chr6:85824323-85824324	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192773468	chr6:85824332-85824333	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs150101749	chr6:85824346-85824347	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs554843022	chr6:85824350-85824351	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs541800325	chr6:85824364-85824365	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs574340476	chr6:85824382-85824383	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs78559261	chr6:85824384-85824385	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs10214904	chr6:85824404-85824405	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs138448902	chr6:85824425-85824426	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs561592534	chr6:85824593-85824594	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs201571574	chr6:85824732-85824733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577662570	chr6:85824791-85824792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184754374	chr6:85824860-85824861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558836643	chr6:85824878-85824879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560474939	chr6:85824993-85824994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569164342	chr6:85825004-85825005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538145391	chr6:85825047-85825048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568890553	chr6:85825056-85825057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574763259	chr6:85825058-85825059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs55665150	chr6:85825065-85825066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549229852	chr6:85825069-85825070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6923147	chr6:85825072-85825073	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs117293567	chr6:85825088-85825089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10485305	chr6:85825144-85825145	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs571619844	chr6:85825148-85825149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538607809	chr6:85825156-85825157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547377279	chr6:85825174-85825175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78558068	chr6:85825181-85825182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144433656	chr6:85825279-85825280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555158771	chr6:85825337-85825338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576531586	chr6:85825414-85825415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76044775	chr6:85825451-85825452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188577553	chr6:85825479-85825480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62420827	chr6:85825480-85825481	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs562009261	chr6:85825562-85825563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545066300	chr6:85825570-85825571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73478361	chr6:85825579-85825580	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs116011685	chr6:85825630-85825631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181371924	chr6:85825649-85825650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540578817	chr6:85825674-85825675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561160343	chr6:85825679-85825680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6901432	chr6:85825687-85825688	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs113944204	chr6:85825746-85825747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184411843	chr6:85825775-85825776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565277747	chr6:85825802-85825803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117301896	chr6:85825816-85825817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76990915	chr6:85825835-85825836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189180965	chr6:85825920-85825921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182024743	chr6:85825965-85825966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74952239	chr6:85825995-85825996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
craniofacial dysmorphism	21918468	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:85822800-85825400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr6:85823400-85824400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:85823400-85824400	Active TSS	Psoas Muscle	Psoas
4	chr6:85823400-85824600	Flanking Active TSS	Osteobl	bone
5	chr6:85823800-85824400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:85823800-85824400	Weak transcription	Fetal Stomach	stomach
7	chr6:85823800-85824400	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr6:85823800-85824400	Active TSS	Stomach Smooth Muscle	stomach
9	chr6:85823800-85824600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr6:85823800-85824600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:85823800-85824600	Flanking Active TSS	Fetal Brain Female	brain
12	chr6:85823800-85824600	Active TSS	Right Atrium	heart
13	chr6:85824000-85824400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr6:85824000-85824400	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr6:85824000-85824400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:85824000-85824400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:85824000-85824400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:85824000-85824400	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr6:85824000-85824400	Enhancers	Aorta	Aorta
20	chr6:85824000-85824400	Active TSS	Brain Cingulate Gyrus	brain
21	chr6:85824000-85824400	Active TSS	Brain Hippocampus Middle	brain
22	chr6:85824000-85824400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
23	chr6:85824000-85824400	Active TSS	Fetal Kidney	kidney
24	chr6:85824000-85824400	Flanking Active TSS	Fetal Lung	lung
25	chr6:85824000-85824400	Active TSS	Fetal Muscle Trunk	muscle
26	chr6:85824000-85824400	Active TSS	Rectal Smooth Muscle	rectum
27	chr6:85824000-85824400	Flanking Active TSS	HMEC	breast
28	chr6:85824000-85824600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:85824000-85824600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:85824000-85824600	Active TSS	Colon Smooth Muscle	Colon
31	chr6:85824200-85824400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:85824200-85824400	Active TSS	Brain Anterior Caudate	brain
33	chr6:85824200-85824400	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr6:85824200-85824400	Active TSS	Fetal Muscle Leg	muscle
35	chr6:85824200-85824400	Active TSS	Ovary	ovary
36	chr6:85824200-85824400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr6:85824200-85824400	Flanking Bivalent TSS/Enh	HSMMtube	muscle
38	chr6:85824200-85824400	Flanking Active TSS	NHDF-Ad	bronchial
39	chr6:85824200-85824400	Flanking Active TSS	NHLF	lung
40	chr6:85824200-85824600	Bivalent/Poised TSS	Fetal Brain Male	brain
41	chr6:85824400-85824600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:85824400-85824600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr6:85824400-85824600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:85824400-85824600	Active TSS	Fetal Lung	lung
45	chr6:85824400-85824600	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr6:85824400-85824600	Enhancers	Fetal Stomach	stomach
47	chr6:85824400-85824600	Active TSS	NHDF-Ad	bronchial
48	chr6:85824400-85825200	Weak transcription	Brain Germinal Matrix	brain
49	chr6:85824400-85826800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:85824600-85825000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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