Variant report

Variant	nsv464058
Chromosome Location	chr6:133492507-133527935
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:133151552..133152231-chr6:133505787..133506589,2	MCF-7	breast:
2	chr6:133133722..133135487-chr6:133500551..133504315,3	K562	blood:
3	chr6:133505707..133506822-chr6:133833315..133834160,3	MCF-7	breast:
4	chr6:133484970..133486703-chr6:133490391..133493056,2	MCF-7	breast:
5	chr6:133512728..133513279-chr6:133689484..133690000,2	MCF-7	breast:
6	chr6:133505838..133506428-chr6:133832666..133833298,2	MCF-7	breast:
7	chr6:133505840..133506389-chr6:133833295..133833930,2	MCF-7	breast:
8	chr6:133283739..133284591-chr6:133505537..133506147,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000227954	chromatin interactions

Extended variants
information (count: 801 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:801 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9483557	chr6:133492507-133492508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9375939	chr6:133492535-133492536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56998787	chr6:133492668-133492669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs181060842	chr6:133492711-133492712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527696672	chr6:133492730-133492731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117224124	chr6:133492754-133492755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571209975	chr6:133492798-133492799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71574646	chr6:133492866-133492867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549883067	chr6:133492875-133492876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533550798	chr6:133492930-133492931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550143204	chr6:133492938-133492939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570250198	chr6:133492947-133492948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200883163	chr6:133492950-133492951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201029875	chr6:133492982-133492983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533883175	chr6:133492990-133492991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9483558	chr6:133492991-133492992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs554251353	chr6:133493024-133493025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34943789	chr6:133493047-133493048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75743926	chr6:133493073-133493074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367735804	chr6:133493112-133493113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs55727060	chr6:133493113-133493114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs77822885	chr6:133493157-133493158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12111337	chr6:133493201-133493202	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs116223477	chr6:133493209-133493210	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs57189941	chr6:133493258-133493259	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs77479197	chr6:133493292-133493293	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541918102	chr6:133493296-133493297	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562205555	chr6:133493325-133493326	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374241830	chr6:133493379-133493380	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79240340	chr6:133493414-133493415	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148875197	chr6:133493416-133493417	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145318180	chr6:133493417-133493418	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577338546	chr6:133493458-133493459	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533426357	chr6:133493478-133493479	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550474664	chr6:133493485-133493486	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111554286	chr6:133493548-133493549	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540346	chr6:133493558-133493559	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs547875330	chr6:133493568-133493569	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192064809	chr6:133493689-133493690	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533527034	chr6:133493690-133493691	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141545770	chr6:133493755-133493756	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570448200	chr6:133493816-133493817	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1933234	chr6:133493828-133493829	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562462757	chr6:133493839-133493840	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528684985	chr6:133493905-133493906	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117006263	chr6:133493913-133493914	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540428787	chr6:133493939-133493940	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530261908	chr6:133494002-133494003	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs562415973	chr6:133494018-133494019	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs374444936	chr6:133494039-133494040	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133486800-133493200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:133491600-133493200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:133491600-133493400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:133492000-133493200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr6:133492000-133493400	Weak transcription	Brain Substantia Nigra	brain
6	chr6:133492000-133494200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:133493200-133493800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:133493200-133493800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
9	chr6:133493200-133494000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:133493200-133494400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:133493400-133493600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:133493400-133494200	ZNF genes & repeats	Brain Substantia Nigra	brain
13	chr6:133493600-133495800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:133494000-133496000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr6:133494400-133496000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:133496000-133496200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr6:133496000-133496200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:133500600-133501000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:133500600-133501200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr6:133500800-133501400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:133501200-133506400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr6:133505800-133507000	Enhancers	A549	lung
23	chr6:133506000-133506200	Enhancers	Fetal Lung	lung
24	chr6:133506200-133506400	Enhancers	Fetal Kidney	kidney
25	chr6:133506200-133506600	Flanking Active TSS	Fetal Lung	lung
26	chr6:133506400-133507800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr6:133506600-133508200	Weak transcription	Fetal Kidney	kidney
28	chr6:133506600-133508600	Enhancers	Fetal Lung	lung
29	chr6:133508200-133509600	Enhancers	Fetal Kidney	kidney
30	chr6:133508400-133508600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:133508600-133509600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:133508600-133512200	Weak transcription	Fetal Lung	lung
33	chr6:133508800-133509200	Enhancers	H9 Cell Line	embryonic stem cell
34	chr6:133508800-133509200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:133508800-133509600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr6:133508800-133509600	Enhancers	NH-A	brain
37	chr6:133508800-133509600	Enhancers	Osteobl	bone
38	chr6:133508800-133510800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr6:133509000-133509600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr6:133509000-133509800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:133509000-133510200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr6:133509000-133510200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr6:133509000-133510400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr6:133509000-133510800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr6:133509000-133510800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr6:133509000-133510800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr6:133509200-133509400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:133509200-133509800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:133509200-133512000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr6:133509400-133510200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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