Variant report

Variant	nsv998319
Chromosome Location	chr3:21999480-22033364
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:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:126141332..126144254-chr3:22001697..22003217,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UBE2E2-2	chr3:22021123-22021320	ENSG00000223351
2	lnc-UBE2E2-2	chr3:22000324-22000415	ENSG00000223351
3	lnc-UBE2E2-2	chr3:22019707-22019783	ENSG00000223351
4	lnc-UBE2E2-2	chr3:22000324-22000415	ENSG00000223351
5	lnc-UBE2E2-2	chr3:22002908-22003032	ENSG00000223351

No data

Variant related genes	Relation type
ENSG00000110074	chromatin interactions

Extended variants
information (count: 910 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:910 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544519208	chr3:21999485-21999486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369919374	chr3:21999494-21999495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375357900	chr3:21999495-21999496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142336606	chr3:21999508-21999509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368874367	chr3:21999654-21999655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188480326	chr3:21999668-21999669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372657324	chr3:21999675-21999676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151286310	chr3:21999696-21999697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548942292	chr3:21999697-21999698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370136876	chr3:21999702-21999703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139346681	chr3:21999704-21999705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180855390	chr3:21999710-21999711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9821707	chr3:21999730-21999731	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs144436539	chr3:21999746-21999747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146611083	chr3:21999776-21999777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9821571	chr3:21999782-21999783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs540278888	chr3:21999785-21999786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73133215	chr3:21999815-21999816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs9821722	chr3:21999842-21999843	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs532231368	chr3:21999848-21999849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9822011	chr3:21999859-21999860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs4642151	chr3:21999869-21999870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs9841763	chr3:21999895-21999896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs9859355	chr3:21999907-21999908	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs560239382	chr3:21999908-21999909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185747630	chr3:21999971-21999972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549003635	chr3:21999982-21999983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9821912	chr3:21999986-21999987	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs547083875	chr3:22000011-22000012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145162758	chr3:22000024-22000025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550870657	chr3:22000034-22000035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144870426	chr3:22000053-22000054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9873232	chr3:22000066-22000067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs189673752	chr3:22000069-22000070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78440593	chr3:22000079-22000080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149043035	chr3:22000126-22000127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114073943	chr3:22000133-22000134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9873106	chr3:22000144-22000145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs112472550	chr3:22000155-22000156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570712712	chr3:22000156-22000157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs259565	chr3:22000170-22000171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs13088863	chr3:22000219-22000220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs181811657	chr3:22000240-22000241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545242358	chr3:22000253-22000254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10575386	chr3:22000259-22000260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs67054042	chr3:22000261-22000262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114656150	chr3:22000280-22000281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572261922	chr3:22000296-22000297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35745267	chr3:22000322-22000323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542737560	chr3:22000326-22000327	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	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
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21997400-22003000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:21997600-22003200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:21997800-22000600	Weak transcription	Liver	Liver
4	chr3:22000600-22002200	Enhancers	Liver	Liver
5	chr3:22001200-22001400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr3:22001600-22003600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:22002200-22003600	Weak transcription	Liver	Liver
8	chr3:22003000-22004600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:22003200-22004000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:22003400-22003800	Enhancers	NHLF	lung
11	chr3:22003400-22004000	Enhancers	Osteobl	bone
12	chr3:22003400-22004800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:22003400-22004800	Enhancers	Fetal Stomach	stomach
14	chr3:22003600-22004000	Enhancers	Fetal Lung	lung
15	chr3:22003600-22004000	Enhancers	NHDF-Ad	bronchial
16	chr3:22003600-22004400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:22003600-22004600	Enhancers	Liver	Liver
18	chr3:22003600-22004800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr3:22003600-22005000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr3:22003800-22004200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:22003800-22004200	Enhancers	Fetal Heart	heart
22	chr3:22003800-22004600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:22003800-22004600	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr3:22003800-22004800	Enhancers	NH-A	brain
25	chr3:22004000-22004600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr3:22004400-22009600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:22009600-22010200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:22012800-22013000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:22019600-22019800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr3:22019800-22020400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr3:22020400-22022000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr3:22020800-22021800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:22021000-22021800	Enhancers	NH-A	brain
34	chr3:22021400-22021800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:22031200-22031600	Enhancers	Fetal Heart	heart
36	chr3:22031800-22033400	Enhancers	Fetal Lung	lung
37	chr3:22032800-22033000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:22032800-22034000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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