Variant report

Variant	nsv876684
Chromosome Location	chr3:34502652-34566947
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:34325094..34326771-chr3:34500714..34502668,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLASP2-2	chr3:34566310-34566553	XLOC_003080

Extended variants
information (count: 1230 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1230 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553820485	chr3:34505254-34505255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572208181	chr3:34505309-34505310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561762927	chr3:34505337-34505338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187135906	chr3:34505361-34505362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539587407	chr3:34505371-34505372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138581178	chr3:34505401-34505402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367619419	chr3:34505418-34505419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576591280	chr3:34505444-34505445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544080689	chr3:34505463-34505464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142822180	chr3:34505467-34505468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573652253	chr3:34505488-34505489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541032713	chr3:34505501-34505502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559448631	chr3:34505565-34505566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9836934	chr3:34505650-34505651	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
15	rs544822735	chr3:34505664-34505665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556080944	chr3:34505738-34505739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563476002	chr3:34505766-34505767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530649865	chr3:34505805-34505806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549223111	chr3:34505809-34505810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567242776	chr3:34505814-34505815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147368985	chr3:34505858-34505859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139567407	chr3:34505878-34505879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565784792	chr3:34505914-34505915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149879600	chr3:34505919-34505920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558006898	chr3:34505962-34505963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183296319	chr3:34506019-34506020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187517351	chr3:34506041-34506042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555980827	chr3:34506042-34506043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191497503	chr3:34506050-34506051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs57746602	chr3:34506079-34506080	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs541786469	chr3:34506092-34506093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9874941	chr3:34506100-34506101	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs577741696	chr3:34506110-34506111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545072282	chr3:34506115-34506116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546289026	chr3:34506176-34506177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563250960	chr3:34506256-34506257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537734507	chr3:34506276-34506277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143368136	chr3:34506298-34506299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566455032	chr3:34506309-34506310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540772090	chr3:34506311-34506312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1406567	chr3:34506339-34506340	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs143869812	chr3:34506346-34506347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546519264	chr3:34506354-34506355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376622304	chr3:34506376-34506377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200238817	chr3:34506385-34506386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368834469	chr3:34506412-34506413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558536621	chr3:34506449-34506450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533190573	chr3:34506525-34506526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75535709	chr3:34506526-34506527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532794523	chr3:34506543-34506544	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34505200-34506400	Enhancers	Placenta Amnion	Placenta Amnion
2	chr3:34506000-34507200	Enhancers	Fetal Brain Male	brain
3	chr3:34513000-34513600	Enhancers	Thymus	Thymus
4	chr3:34513600-34517200	Weak transcription	Thymus	Thymus
5	chr3:34515000-34515200	Weak transcription	Dnd41	blood
6	chr3:34517200-34517400	Enhancers	Thymus	Thymus
7	chr3:34517200-34518200	Enhancers	Dnd41	blood
8	chr3:34517200-34518600	Enhancers	Fetal Thymus	thymus
9	chr3:34517400-34517600	ZNF genes & repeats	Aorta	Aorta
10	chr3:34517400-34518600	Flanking Active TSS	Thymus	Thymus
11	chr3:34517600-34519000	Weak transcription	Aorta	Aorta
12	chr3:34518600-34519600	Active TSS	Thymus	Thymus
13	chr3:34519600-34520400	Weak transcription	Thymus	Thymus
14	chr3:34520400-34520600	Enhancers	Thymus	Thymus
15	chr3:34524000-34524800	Weak transcription	Aorta	Aorta
16	chr3:34524400-34524800	Enhancers	Dnd41	blood
17	chr3:34524800-34525200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:34524800-34525200	Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr3:34524800-34525200	Active TSS	A549	lung
20	chr3:34524800-34525400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr3:34524800-34525400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:34524800-34525400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:34524800-34525400	Active TSS	Aorta	Aorta
24	chr3:34524800-34525600	Active TSS	Primary T cells from cord blood	blood
25	chr3:34524800-34525600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr3:34524800-34525800	Flanking Active TSS	Dnd41	blood
27	chr3:34525000-34525200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr3:34525000-34525400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:34525000-34525400	Active TSS	Primary T cells fromperipheralblood	blood
30	chr3:34525000-34525400	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr3:34525000-34525400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:34525000-34525400	Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr3:34525000-34525400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr3:34525000-34525400	Active TSS	Brain Angular Gyrus	brain
35	chr3:34525000-34525400	Active TSS	Brain Hippocampus Middle	brain
36	chr3:34525000-34525600	Active TSS	Brain Anterior Caudate	brain
37	chr3:34525000-34525600	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr3:34525000-34525600	Active TSS	Thymus	Thymus
39	chr3:34525200-34525400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr3:34525200-34525600	Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr3:34525200-34525600	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr3:34525400-34525800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr3:34525400-34526000	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr3:34525400-34533200	Weak transcription	Aorta	Aorta
45	chr3:34525600-34525800	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr3:34525600-34525800	Enhancers	Thymus	Thymus
47	chr3:34525600-34526000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr3:34525800-34526800	Enhancers	Dnd41	blood
49	chr3:34525800-34527200	Weak transcription	Thymus	Thymus
50	chr3:34527200-34527400	Enhancers	Thymus	Thymus

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