Variant report

Variant	nsv605007
Chromosome Location	chr6:161240841-161271777
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:5)
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	chr6:161260541..161262340-chr6:161262561..161265121,3	K562	blood:
2	chr6:161271079..161273700-chr6:161275442..161277966,3	K562	blood:
3	chr6:161271079..161273454-chr6:161275442..161277966,2	K562	blood:
4	chr6:161248150..161249930-chr6:161255516..161257589,2	K562	blood:
5	chr6:161231600..161233858-chr6:161239225..161241427,2	K562	blood:
6	chr6:161260541..161262340-chr6:161262561..161265121,3	K562	blood:
7	chr6:161248150..161249930-chr6:161255516..161257589,2	K562	blood:
8	chr6:161255639..161258104-chr6:161293113..161295110,2	K562	blood:
9	chr6:161266955..161270556-chr6:161271678..161274838,4	K562	blood:
10	chr6:161266955..161270556-chr6:161271678..161274838,4	K562	blood:
11	chr6:161250769..161254707-chr6:161411304..161414099,3	K562	blood:
12	chr6:161235361..161237238-chr6:161238681..161240959,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLG-3	chr6:161268016-161268184	NONHSAT115916
2	lnc-PLG-3	chr6:161267391-161267600	NONHSAT115916
3	lnc-PLG-3	chr6:161268885-161269038	l_3310_chr6:161267548-161283742_testes
4	lnc-PLG-3	chr6:161268128-161268254	l_3310_chr6:161267548-161283742_testes
5	lnc-PLG-3	chr6:161267549-161267600	l_3310_chr6:161267548-161283742_testes

No data

Variant related genes	Relation type
ENSG00000085511	chromatin interactions
ENSG00000272841	chromatin interactions

Extended variants
information (count: 175 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:175 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9355839	chr6:161250259-161250260	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140606700	chr6:161250301-161250302	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs577948101	chr6:161250311-161250312	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs377637340	chr6:161250321-161250322	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs371522596	chr6:161250329-161250330	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs559168588	chr6:161250335-161250336	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs543942920	chr6:161250396-161250397	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs556988930	chr6:161250409-161250410	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs575837880	chr6:161250421-161250422	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs541588193	chr6:161250444-161250445	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs561667516	chr6:161250447-161250448	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs527607018	chr6:161250454-161250455	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs540954121	chr6:161250522-161250523	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs549854649	chr6:161250825-161250826	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs569727205	chr6:161250826-161250827	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs147767171	chr6:161250829-161250830	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs376334311	chr6:161250832-161250833	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs192845532	chr6:161250842-161250843	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs185212857	chr6:161250863-161250864	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs566256475	chr6:161250911-161250912	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs138999882	chr6:161251059-161251060	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs558163263	chr6:161251073-161251074	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs571617913	chr6:161251076-161251077	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs537004428	chr6:161251080-161251081	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs557048310	chr6:161251120-161251121	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs374429031	chr6:161251131-161251132	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs564879317	chr6:161251144-161251145	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs16891871	chr6:161251171-161251172	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs149884112	chr6:161251177-161251178	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs190059657	chr6:161251254-161251255	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs572140132	chr6:161251278-161251279	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs541365992	chr6:161251283-161251284	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs564181780	chr6:161251291-161251292	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs532950685	chr6:161251323-161251324	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs144926514	chr6:161251325-161251326	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs9355840	chr6:161251350-161251351	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs149070367	chr6:161251383-161251384	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs529586372	chr6:161251469-161251470	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs549088834	chr6:161251555-161251556	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs181692712	chr6:161251589-161251590	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs569392167	chr6:161251603-161251604	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs4127338	chr6:161251621-161251622	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs552059512	chr6:161251693-161251694	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs373025337	chr6:161251703-161251704	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs143796851	chr6:161251729-161251730	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs186402135	chr6:161251750-161251751	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs1247536	chr6:161251773-161251774	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs1247537	chr6:161251788-161251789	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs146856865	chr6:161251807-161251808	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs553049616	chr6:161251821-161251822	Inactive region	Chromatin interactive region	2 gene(s)	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
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
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
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161250200-161250600	Active TSS	K562	blood
2	chr6:161252200-161252800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr6:161252200-161253000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr6:161252600-161253000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr6:161252600-161253000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:161252600-161253000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr6:161252600-161253400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:161252800-161253200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:161252800-161253200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:161258200-161258400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:161258200-161258400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:161258200-161258600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:161258600-161258800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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