Variant report

Variant	nsv830678
Chromosome Location	chr6:67452208-67611895
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:67534211..67536445-chr6:67538569..67540725,2	MCF-7	breast:
2	chr6:67444035..67445602-chr6:67467321..67470061,2	MCF-7	breast:
3	chr12:47503984..47504568-chr6:67484757..67485277,2	MCF-7	breast:
4	chr6:67531677..67533488-chr6:67538061..67540928,2	K562	blood:
5	chr6:67531677..67533488-chr6:67538061..67540928,2	K562	blood:
6	chr6:67512172..67514345-chr6:67514772..67516688,2	MCF-7	breast:
7	chr5:101725894..101726537-chr6:67534604..67535331,2	MCF-7	breast:
8	chr6:67498200..67500094-chr6:67502511..67504222,2	K562	blood:
9	chr6:67534211..67536445-chr6:67538569..67540725,2	MCF-7	breast:
10	chr6:67498200..67500094-chr6:67502511..67504222,2	K562	blood:
11	chr6:67512172..67514345-chr6:67514772..67516688,2	MCF-7	breast:

No data

Extended variants
information (count: 925 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:925 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs716140	chr6:67460631-67460632	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564992817	chr6:67460642-67460643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527286253	chr6:67460696-67460697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546988821	chr6:67460715-67460716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557948222	chr6:67460744-67460745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529728459	chr6:67460814-67460815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549436187	chr6:67460821-67460822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188240014	chr6:67460852-67460853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538813607	chr6:67460868-67460869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73743486	chr6:67460935-67460936	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs193189046	chr6:67460938-67460939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535056497	chr6:67460945-67460946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543766030	chr6:67460960-67460961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567130891	chr6:67480486-67480487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13212321	chr6:67480516-67480517	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs549708265	chr6:67480621-67480622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575695577	chr6:67480622-67480623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569592321	chr6:67480652-67480653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576701395	chr6:67480755-67480756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11752624	chr6:67480759-67480760	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs376283425	chr6:67480775-67480776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558538656	chr6:67480784-67480785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73443496	chr6:67482222-67482223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532365501	chr6:67482241-67482242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545665472	chr6:67482264-67482265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559465253	chr6:67482268-67482269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528400814	chr6:67482440-67482441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71757042	chr6:67482444-67482445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74586968	chr6:67482450-67482451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191569488	chr6:67482481-67482482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538212304	chr6:67482491-67482492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184054335	chr6:67482506-67482507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561678765	chr6:67482546-67482547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs59712843	chr6:67482549-67482550	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs111377844	chr6:67482574-67482575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545647270	chr6:67482585-67482586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140189911	chr6:67482597-67482598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188885293	chr6:67482637-67482638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540055911	chr6:67482645-67482646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12202727	chr6:67482667-67482668	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs145601804	chr6:67482675-67482676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13206392	chr6:67482708-67482709	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs147715496	chr6:67482713-67482714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140847020	chr6:67482726-67482727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77819223	chr6:67482732-67482733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117233066	chr6:67482749-67482750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374790693	chr6:67482784-67482785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs13194137	chr6:67482829-67482830	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs540697167	chr6:67482866-67482867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559289333	chr6:67482911-67482912	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	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
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Wilms tumour	21544195	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:67460600-67461000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:67480400-67480800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:67482200-67483200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:67482800-67483400	Enhancers	Aorta	Aorta
5	chr6:67497000-67498600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:67498600-67498800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:67559400-67560200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:67560000-67560400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:67564000-67564600	Active TSS	Fetal Heart	heart
10	chr6:67564400-67565000	Enhancers	Adipose Nuclei	Adipose
11	chr6:67565000-67570400	Weak transcription	Adipose Nuclei	Adipose
12	chr6:67570400-67571200	Enhancers	Adipose Nuclei	Adipose
13	chr6:67575800-67577000	Enhancers	NH-A	brain
14	chr6:67587000-67588400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:67590600-67591200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:67590600-67591200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:67590600-67591200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:67590800-67591200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:67590800-67591200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
20	chr6:67606200-67607200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:67606200-67608000	Enhancers	NHEK	skin
22	chr6:67606400-67608000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:67606600-67608200	Enhancers	HMEC	breast
24	chr6:67607200-67608200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:67607400-67607800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:67607400-67607800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:67607400-67607800	Enhancers	Adipose Nuclei	Adipose
28	chr6:67607400-67608200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr6:67607600-67608000	Active TSS	Fetal Heart	heart
30	chr6:67607800-67609800	Weak transcription	Adipose Nuclei	Adipose
31	chr6:67609200-67613200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:67609400-67609600	Enhancers	NH-A	brain
33	chr6:67610000-67610600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:67610200-67610400	Enhancers	Adipose Nuclei	Adipose
35	chr6:67610200-67610400	Enhancers	NH-A	brain
36	chr6:67610200-67610600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:67610600-67611600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:67611600-67612000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr6:67611600-67612200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr6:67611600-67612400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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