Variant report

Variant	nsv1032130
Chromosome Location	chr6:81572030-81722231
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:81656912..81658569-chr6:81659055..81661671,2	K562	blood:
2	chr6:81713030..81715719-chr6:81717371..81719570,2	MCF-7	breast:
3	chr6:81654232..81656742-chr6:81662594..81664645,2	K562	blood:
4	chr6:81654232..81656742-chr6:81662594..81664645,2	K562	blood:
5	chr6:81656427..81658412-chr6:81659055..81660957,2	K562	blood:
6	chr6:81656427..81658412-chr6:81659055..81660957,2	K562	blood:
7	chr6:81656912..81658569-chr6:81659055..81661671,2	K562	blood:
8	chr6:81639861..81642496-chr6:81657768..81659488,2	K562	blood:
9	chr6:81713030..81715719-chr6:81717371..81719570,2	MCF-7	breast:
10	chr6:81639861..81642496-chr6:81657768..81659488,2	K562	blood:
11	chr6:81681010..81683016-chr6:81684816..81687356,2	MCF-7	breast:
12	chr6:81681010..81683016-chr6:81684816..81687356,2	MCF-7	breast:

No data

Extended variants
information (count: 2219 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:2219 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547938854	chr6:81572450-81572451	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs544239250	chr6:81572468-81572469	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs553654315	chr6:81572481-81572482	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs377119269	chr6:81572484-81572485	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs183627415	chr6:81572502-81572503	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs530240457	chr6:81572515-81572516	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs546743624	chr6:81572555-81572556	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs560747295	chr6:81572580-81572581	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs532552321	chr6:81572589-81572590	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs189291651	chr6:81572596-81572597	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs569614056	chr6:81572604-81572605	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs35279573	chr6:81572665-81572666	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs9443837	chr6:81572667-81572668	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs566797977	chr6:81572710-81572711	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs368644954	chr6:81572727-81572728	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs544338394	chr6:81572742-81572743	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs376637107	chr6:81572744-81572745	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs556508	chr6:81572773-81572774	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs533900861	chr6:81572800-81572801	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs193150364	chr6:81572872-81572873	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs552178262	chr6:81572944-81572945	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs576969012	chr6:81572953-81572954	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs525586	chr6:81572983-81572984	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs537813634	chr6:81572998-81572999	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs556297948	chr6:81573000-81573001	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs528251323	chr6:81581426-81581427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545222668	chr6:81581435-81581436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375264576	chr6:81581446-81581447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565220310	chr6:81581451-81581452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181615790	chr6:81581452-81581453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555636644	chr6:81581455-81581456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567470653	chr6:81581504-81581505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550178696	chr6:81581514-81581515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs202112466	chr6:81581525-81581526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4404737	chr6:81581529-81581530	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs549018099	chr6:81581530-81581531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565831993	chr6:81581533-81581534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200908840	chr6:81581536-81581537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4377759	chr6:81581554-81581555	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs148036088	chr6:81581555-81581556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544651381	chr6:81581668-81581669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6923258	chr6:81581673-81581674	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs568417858	chr6:81581759-81581760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141709362	chr6:81581836-81581837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573519183	chr6:81581847-81581848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575029640	chr6:81581927-81581928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542328161	chr6:81581941-81581942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186174815	chr6:81581943-81581944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6905709	chr6:81581944-81581945	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs545259279	chr6:81581979-81581980	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	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
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81572400-81573000	Active TSS	NHDF-Ad	bronchial
2	chr6:81581400-81582600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:81581800-81583000	Enhancers	Liver	Liver
4	chr6:81582000-81582400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:81582000-81582400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr6:81582000-81582600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:81582200-81582600	Enhancers	Adipose Nuclei	Adipose
8	chr6:81600600-81601800	Enhancers	Dnd41	blood
9	chr6:81600800-81601000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr6:81600800-81601600	Enhancers	Fetal Heart	heart
11	chr6:81601400-81601800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:81609800-81610200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:81612600-81613800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:81613800-81615000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:81615000-81615400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:81630800-81631800	Enhancers	Fetal Muscle Leg	muscle
17	chr6:81632000-81633800	Enhancers	Colon Smooth Muscle	Colon
18	chr6:81632200-81633000	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr6:81632800-81634200	Enhancers	Rectal Smooth Muscle	rectum
20	chr6:81633000-81634800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr6:81642800-81644800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:81644800-81645200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:81645200-81645600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:81645600-81646400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:81646400-81648400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:81646800-81647000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:81649000-81649600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr6:81649000-81649600	Enhancers	NHLF	lung
29	chr6:81649000-81651600	Enhancers	Fetal Lung	lung
30	chr6:81649400-81650800	Enhancers	HSMMtube	muscle
31	chr6:81649600-81650600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr6:81649600-81650600	Weak transcription	NHLF	lung
33	chr6:81649600-81651400	Enhancers	Dnd41	blood
34	chr6:81649800-81651200	Enhancers	Rectal Smooth Muscle	rectum
35	chr6:81650000-81651200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:81650200-81650800	Enhancers	Colon Smooth Muscle	Colon
37	chr6:81650400-81651400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:81650600-81650800	Enhancers	Placenta Amnion	Placenta Amnion
39	chr6:81651000-81651200	Enhancers	NHLF	lung
40	chr6:81651400-81653800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:81653800-81654200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:81662000-81662800	Enhancers	Dnd41	blood
43	chr6:81662000-81663200	Enhancers	Fetal Intestine Large	intestine
44	chr6:81663200-81668800	Weak transcription	Fetal Intestine Large	intestine
45	chr6:81664400-81664600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr6:81664400-81665000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr6:81664800-81665200	Enhancers	HUVEC	blood vessel
48	chr6:81664800-81666600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr6:81665200-81665600	Weak transcription	HUVEC	blood vessel
50	chr6:81665600-81667800	Enhancers	HUVEC	blood vessel

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