Variant report

Variant	nsv523929
Chromosome Location	chr6:161235098-161260530
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:7)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161248150..161249930-chr6:161255516..161257589,2	K562	blood:
2	chr6:161250769..161254707-chr6:161411304..161414099,3	K562	blood:
3	chr6:161248150..161249930-chr6:161255516..161257589,2	K562	blood:
4	chr6:161231600..161233858-chr6:161239225..161241427,2	K562	blood:
5	chr6:161255639..161258104-chr6:161293113..161295110,2	K562	blood:
6	chr6:161235361..161237238-chr6:161238681..161240959,2	K562	blood:
7	chr6:161235361..161237238-chr6:161238681..161240959,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LPA-2	chr6:161237596-161237875	XLOC_005906
2	lnc-LPA-2	chr6:161238186-161238383	XLOC_005906
3	lnc-LPA-2	chr6:161236582-161237293	XLOC_005906

No data

Variant related genes	Relation type
ENSG00000272841	chromatin interactions
ENSG00000085511	chromatin interactions

Extended variants
information (count: 191 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:191 , 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	rs571220493	chr6:161236594-161236595	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs547337958	chr6:161236617-161236618	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs541346100	chr6:161236686-161236687	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs570363424	chr6:161236800-161236801	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs539052567	chr6:161236832-161236833	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs114138736	chr6:161236902-161236903	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs554805374	chr6:161236919-161236920	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs147294088	chr6:161236930-161236931	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs187472668	chr6:161236969-161236970	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs139282453	chr6:161236996-161236997	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs575016523	chr6:161237035-161237036	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs372496679	chr6:161237036-161237037	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs558497133	chr6:161237044-161237045	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs578241459	chr6:161237078-161237079	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs368518422	chr6:161237087-161237088	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs143687018	chr6:161237088-161237089	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs114581531	chr6:161237090-161237091	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs115032617	chr6:161237091-161237092	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs376125603	chr6:161237094-161237095	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs370751318	chr6:161237096-161237097	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs373974575	chr6:161237097-161237098	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs375906374	chr6:161237099-161237100	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs138011603	chr6:161237101-161237102	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs573927384	chr6:161237155-161237156	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs139411130	chr6:161237163-161237164	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs572458174	chr6:161237178-161237179	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs192925111	chr6:161237198-161237199	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs1652463	chr6:161237204-161237205	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs533028529	chr6:161237221-161237222	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs117919799	chr6:161237228-161237229	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs563726969	chr6:161237264-161237265	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs544722889	chr6:161237596-161237597	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs115108433	chr6:161237648-161237649	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs540846528	chr6:161237671-161237672	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs563965696	chr6:161237672-161237673	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs192973527	chr6:161237731-161237732	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs148742681	chr6:161237753-161237754	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs78329911	chr6:161237789-161237790	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs184267100	chr6:161237858-161237859	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs2802356	chr6:161238215-161238216	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs191328434	chr6:161238221-161238222	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs369957120	chr6:161238257-161238258	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs529158576	chr6:161238292-161238293	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs181664706	chr6:161238299-161238300	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs369227979	chr6:161238321-161238322	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs185952037	chr6:161238322-161238323	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs146821259	chr6:161238338-161238339	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs16891866	chr6:161238347-161238348	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs9355839	chr6:161250259-161250260	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs140606700	chr6:161250301-161250302	Active TSS	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
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

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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