Variant report

Variant	nsv520479
Chromosome Location	chr6:142869099-142908146
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:2)
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	chr6:142873824..142875565-chr6:142876278..142879250,2	K562	blood:
2	chr6:142795660..142796512-chr6:142887782..142888463,3	MCF-7	breast:
3	chr6:142865194..142866984-chr6:142867899..142870428,2	K562	blood:
4	chr6:142888070..142889007-chr6:143658493..143659311,3	K562	blood:
5	chr6:142873824..142875565-chr6:142876278..142879250,2	K562	blood:
6	chr6:142885913..142888379-chr6:142890685..142893143,2	MCF-7	breast:
7	chr6:142885913..142888379-chr6:142890685..142893143,2	MCF-7	breast:
8	chr6:142887945..142888620-chr6:143748282..143748998,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIVEP2-7	chr6:142889285-142891213	NONHSAT115318
2	lnc-HIVEP2-7	chr6:142907637-142907823	NONHSAT115318

No data

Extended variants
information (count: 1369 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1369 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs263174	chr6:142869099-142869100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544280164	chr6:142869101-142869102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562583144	chr6:142869103-142869104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs702289	chr6:142869135-142869136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189749176	chr6:142869149-142869150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370879958	chr6:142869150-142869151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs180873415	chr6:142869188-142869189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184452533	chr6:142869191-142869192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148114894	chr6:142869343-142869344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs263173	chr6:142869350-142869351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs373912007	chr6:142869351-142869352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550620126	chr6:142869352-142869353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371365221	chr6:142869362-142869363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115543417	chr6:142869366-142869367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9373348	chr6:142869383-142869384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs263172	chr6:142869410-142869411	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs115630572	chr6:142869421-142869422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs71564415	chr6:142869437-142869438	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs189394489	chr6:142869476-142869477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150144972	chr6:142869508-142869509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11968504	chr6:142869516-142869517	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs550334323	chr6:142869518-142869519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570155689	chr6:142869533-142869534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556290112	chr6:142869544-142869545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538705977	chr6:142869553-142869554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577841549	chr6:142869564-142869565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544861412	chr6:142869585-142869586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560259216	chr6:142869602-142869603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572168494	chr6:142869675-142869676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542860678	chr6:142869721-142869722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560857770	chr6:142869729-142869730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552497785	chr6:142869731-142869732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138629502	chr6:142869763-142869764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116641551	chr6:142869851-142869852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562619076	chr6:142869855-142869856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112901842	chr6:142869866-142869867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552814886	chr6:142869879-142869880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567009191	chr6:142869946-142869947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181977992	chr6:142869977-142869978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566253040	chr6:142869988-142869989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549691037	chr6:142870035-142870036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs171914	chr6:142870083-142870084	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs574273799	chr6:142870091-142870092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147348433	chr6:142870103-142870104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs263171	chr6:142870118-142870119	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs76617439	chr6:142870151-142870152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537236939	chr6:142870183-142870184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565137034	chr6:142870233-142870234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538698131	chr6:142870244-142870245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555885000	chr6:142870256-142870257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Burkitt''s lymphoma	19759907	CNVD

Chromatin state (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142864400-142869400	Weak transcription	HMEC	breast
2	chr6:142864400-142871800	Weak transcription	Fetal Muscle Leg	muscle
3	chr6:142864400-142872000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:142864400-142872000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:142864400-142872000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:142864400-142872200	Weak transcription	NHEK	skin
7	chr6:142866800-142869400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr6:142866800-142869600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr6:142866800-142871800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr6:142867000-142869400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr6:142867000-142869600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr6:142867000-142869800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr6:142867200-142869800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr6:142867200-142871800	Weak transcription	Fetal Thymus	thymus
15	chr6:142867400-142869400	Weak transcription	Primary T cells from cord blood	blood
16	chr6:142867400-142869400	Weak transcription	Dnd41	blood
17	chr6:142869400-142869800	Enhancers	HMEC	breast
18	chr6:142869400-142870600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr6:142869400-142872200	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr6:142869400-142872400	Enhancers	Primary T cells from cord blood	blood
21	chr6:142869400-142872800	Enhancers	Dnd41	blood
22	chr6:142869600-142871400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr6:142869600-142873200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr6:142869800-142871000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr6:142869800-142871200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr6:142869800-142871800	Weak transcription	HMEC	breast
27	chr6:142870200-142870800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:142870200-142871000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:142870600-142871600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr6:142870800-142871000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr6:142870800-142871000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:142870800-142871000	Enhancers	Stomach Mucosa	stomach
33	chr6:142871000-142872200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:142871000-142872600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr6:142871000-142873200	Enhancers	HSMMtube	muscle
36	chr6:142871400-142871600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr6:142871400-142871800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr6:142871400-142872600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr6:142871400-142872800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr6:142871400-142873000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr6:142871400-142873200	Enhancers	Fetal Stomach	stomach
42	chr6:142871400-142873200	Enhancers	HSMM	muscle
43	chr6:142871400-142873400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr6:142871600-142872000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr6:142871600-142872000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr6:142871600-142872200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr6:142871600-142872400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:142871600-142873200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr6:142871600-142873600	Enhancers	Fetal Lung	lung
50	chr6:142871800-142872000	Enhancers	Skeletal Muscle Male	skeletal muscle

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