Variant report

Variant	nsv886315
Chromosome Location	chr6:81352515-81946866
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:81409393..81411160-chr6:81414205..81416230,2	K562	blood:
2	chr6:81521173..81524093-chr6:81524294..81526151,2	MCF-7	breast:
3	chr6:81731744..81734648-chr6:81746656..81748984,2	K562	blood:
4	chr6:81713030..81715719-chr6:81717371..81719570,2	MCF-7	breast:
5	chr6:81409393..81411160-chr6:81414205..81416230,2	K562	blood:
6	chr6:81654232..81656742-chr6:81662594..81664645,2	K562	blood:
7	chr6:81656427..81658412-chr6:81659055..81660957,2	K562	blood:
8	chr6:81639861..81642496-chr6:81657768..81659488,2	K562	blood:
9	chr6:81654232..81656742-chr6:81662594..81664645,2	K562	blood:
10	chr6:81639861..81642496-chr6:81657768..81659488,2	K562	blood:
11	chr6:81432843..81435749-chr6:81437769..81439688,2	MCF-7	breast:
12	chr6:81475807..81477610-chr6:81479287..81482021,2	MCF-7	breast:
13	chr6:81656427..81658412-chr6:81659055..81660957,2	K562	blood:
14	chr6:81681010..81683016-chr6:81684816..81687356,2	MCF-7	breast:
15	chr6:81735393..81738316-chr6:81740944..81743334,2	K562	blood:
16	chr6:81475807..81477610-chr6:81479287..81482021,2	MCF-7	breast:
17	chr6:81656912..81658569-chr6:81659055..81661671,2	K562	blood:
18	chr6:81432843..81435749-chr6:81437769..81439688,2	MCF-7	breast:
19	chr6:81731744..81734648-chr6:81746656..81748984,2	K562	blood:
20	chr6:81713030..81715719-chr6:81717371..81719570,2	MCF-7	breast:
21	chr6:81314911..81315522-chr6:81785483..81786072,2	MCF-7	breast:
22	chr6:81383718..81384315-chr6:81452032..81452789,2	MCF-7	breast:
23	chr6:81452134..81452854-chr6:82175477..82176222,3	MCF-7	breast:
24	chr6:81383718..81384315-chr6:81452032..81452789,2	MCF-7	breast:
25	chr21:46338970..46339822-chr6:81843315..81843996,2	MCF-7	breast:
26	chr6:81735393..81738316-chr6:81740944..81743334,2	K562	blood:
27	chr6:81656912..81658569-chr6:81659055..81661671,2	K562	blood:
28	chr6:81521173..81524093-chr6:81524294..81526151,2	MCF-7	breast:
29	chr6:81681010..81683016-chr6:81684816..81687356,2	MCF-7	breast:
30	chr6:81412447..81415147-chr6:82462041..82464477,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112773	chromatin interactions

Extended variants
information (count: 9263 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:9263 , 50 per page) page: 1 2 3 4 5 6 7 ... 186

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9294177	chr6:81352515-81352516	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1077898	chr6:81352539-81352540	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs566681108	chr6:81352596-81352597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2444818	chr6:81352611-81352612	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs566665535	chr6:81352617-81352618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147752780	chr6:81352638-81352639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557889432	chr6:81352672-81352673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555802520	chr6:81352712-81352713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577992686	chr6:81352751-81352752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537527799	chr6:81352766-81352767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142624119	chr6:81352782-81352783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142867186	chr6:81352798-81352799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574280764	chr6:81352800-81352801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543246954	chr6:81352823-81352824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs16892070	chr6:81352860-81352861	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs189024728	chr6:81352883-81352884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544959077	chr6:81352927-81352928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146397172	chr6:81352972-81352973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530455190	chr6:81352983-81352984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369594714	chr6:81352989-81352990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560655023	chr6:81353025-81353026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73479784	chr6:81353053-81353054	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs3081927	chr6:81353070-81353071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs58037124	chr6:81353071-81353072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34814846	chr6:81353075-81353076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181698661	chr6:81353088-81353089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185630083	chr6:81353107-81353108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372086614	chr6:81353159-81353160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550498275	chr6:81353162-81353163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532284675	chr6:81353269-81353270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs71828693	chr6:81353299-81353300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs57003215	chr6:81353300-81353301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569135944	chr6:81353312-81353313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs748215	chr6:81353325-81353326	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs571542189	chr6:81353327-81353328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537491059	chr6:81353330-81353331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs56918914	chr6:81353344-81353345	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs567769350	chr6:81353365-81353366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536807011	chr6:81353375-81353376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553309909	chr6:81353394-81353395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78997551	chr6:81353408-81353409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545358560	chr6:81353415-81353416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112078721	chr6:81353481-81353482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574849775	chr6:81353485-81353486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73479786	chr6:81353498-81353499	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs566448513	chr6:81353500-81353501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191322036	chr6:81353503-81353504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373410257	chr6:81353508-81353509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183075189	chr6:81353518-81353519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540352687	chr6:81353536-81353537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Breast cancer	21364760	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:580 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81348800-81359800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:81349000-81352600	Weak transcription	Stomach Mucosa	stomach
3	chr6:81349800-81353000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:81351400-81353400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:81351400-81353400	Enhancers	NHDF-Ad	bronchial
6	chr6:81351600-81352800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr6:81352000-81353000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:81352200-81353000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:81352200-81353200	Weak transcription	Osteobl	bone
10	chr6:81353000-81353200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:81353000-81353200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr6:81353200-81353400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:81353200-81353600	Enhancers	Osteobl	bone
14	chr6:81356400-81357200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:81356400-81357600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr6:81356600-81356800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr6:81356600-81357200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr6:81356600-81357200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:81356600-81357200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:81356800-81357000	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr6:81356800-81357200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr6:81356800-81357400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:81356800-81357400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr6:81356800-81357600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr6:81357000-81357200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr6:81357000-81357600	Enhancers	Fetal Muscle Leg	muscle
27	chr6:81357000-81357800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:81357200-81357400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr6:81357200-81357400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr6:81357200-81359200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:81357600-81358400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr6:81357800-81359200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:81359200-81359400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:81359200-81359600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr6:81359600-81364200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:81359800-81360600	Active TSS	H9 Cell Line	embryonic stem cell
37	chr6:81364200-81364600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:81364600-81386800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr6:81368400-81368600	Enhancers	Pancreas	Pancrea
40	chr6:81375000-81376600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr6:81376600-81380400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr6:81377400-81377800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:81380400-81380800	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr6:81380800-81383000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr6:81383000-81384200	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr6:81383200-81384000	Enhancers	HepG2	liver
47	chr6:81384000-81384400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:81384200-81384800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr6:81384800-81385000	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr6:81386000-81387000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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