Variant report

Variant	nsv581266
Chromosome Location	chr2:30864789-30874229
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:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:30873034..30877433-chr2:30878993..30882629,5	MCF-7	breast:
2	chr2:30869841..30871962-chr2:30899360..30901880,2	MCF-7	breast:
3	chr2:30869127..30871765-chr2:30871926..30874749,3	K562	blood:
4	chr2:30872918..30875377-chr2:30876249..30879009,2	K562	blood:
5	chr2:30866947..30869047-chr2:30869143..30871287,2	MCF-7	breast:
6	chr2:30869127..30871765-chr2:30871926..30874749,3	K562	blood:
7	chr2:30864804..30866571-chr2:30870628..30873251,2	MCF-7	breast:
8	chr2:30864804..30866571-chr2:30870628..30873251,2	MCF-7	breast:
9	chr2:30866947..30869047-chr2:30869143..30871287,2	MCF-7	breast:
10	chr2:30859615..30861483-chr2:30862535..30865064,2	K562	blood:
11	chr2:30867045..30872289-chr2:30881194..30886841,8	K562	blood:
12	chr2:30870789..30872377-chr2:30883033..30885539,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	LCLAT1	hsa-miR-124-3p	chr2:30866612-30866631
2	LCLAT1	hsa-miR-124-3p	chr2:30866624-30866631
3	LCLAT1	hsa-miR-30a-5p	chr2:30866081-30866101
4	LCLAT1	hsa-miR-30a-5p	chr2:30866589-30866596
5	LCLAT1	hsa-miR-30a-5p	chr2:30866570-30866596

Extended variants
information (count: 400 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1060737	chr2:30864789-30864790	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs60820628	chr2:30864846-30864847	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563776537	chr2:30864883-30864884	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111440336	chr2:30864891-30864892	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11558821	chr2:30864913-30864914	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546873432	chr2:30864942-30864943	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3816591	chr2:30864976-30864977	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs1447193	chr2:30864980-30864981	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs1060734	chr2:30865048-30865049	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs115646016	chr2:30865084-30865085	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538375464	chr2:30865100-30865101	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551796267	chr2:30865155-30865156	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs3816593	chr2:30865175-30865176	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs72798187	chr2:30865233-30865234	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554464724	chr2:30865234-30865235	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199519917	chr2:30865255-30865256	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200870191	chr2:30865258-30865259	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201539534	chr2:30865266-30865267	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201407023	chr2:30865267-30865268	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2121601	chr2:30865271-30865272	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200720157	chr2:30865272-30865273	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2028962	chr2:30865273-30865274	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374306937	chr2:30865284-30865285	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs60198740	chr2:30865285-30865286	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74261472	chr2:30865286-30865287	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551405154	chr2:30865350-30865351	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370880037	chr2:30865406-30865407	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56818448	chr2:30865415-30865416	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs140893427	chr2:30865461-30865462	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543946337	chr2:30865464-30865465	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563689245	chr2:30865526-30865527	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144803491	chr2:30865528-30865529	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187606708	chr2:30865561-30865562	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560416444	chr2:30865609-30865610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192091067	chr2:30865624-30865625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549145506	chr2:30865689-30865690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562720101	chr2:30865704-30865705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531793028	chr2:30865718-30865719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201834336	chr2:30865757-30865758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571635327	chr2:30865809-30865810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs151314094	chr2:30865854-30865855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534221415	chr2:30865914-30865915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114925184	chr2:30865991-30865992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184936423	chr2:30865997-30865998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11648	chr2:30866042-30866043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567935918	chr2:30866187-30866188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372481344	chr2:30866221-30866222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148341125	chr2:30866327-30866328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200602730	chr2:30866352-30866353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370608674	chr2:30866355-30866356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30835800-30871200	Weak transcription	Small Intestine	intestine
2	chr2:30841800-30872200	Weak transcription	Spleen	Spleen
3	chr2:30843400-30864800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:30845600-30877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:30845800-30877800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:30850200-30874600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:30850400-30865000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:30850400-30869200	Weak transcription	Gastric	stomach
9	chr2:30850400-30874600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:30851400-30865000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:30851800-30865000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:30853200-30867200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:30853200-30872000	Weak transcription	NHDF-Ad	bronchial
14	chr2:30854000-30867000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:30854200-30867600	Weak transcription	Psoas Muscle	Psoas
16	chr2:30854400-30865000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:30854400-30865200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:30854400-30866600	Weak transcription	GM12878-XiMat	blood
19	chr2:30854600-30864800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:30855000-30865000	Weak transcription	Fetal Intestine Small	intestine
21	chr2:30855000-30865400	Weak transcription	HSMM	muscle
22	chr2:30855600-30867200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:30856400-30866600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:30857000-30869000	Weak transcription	Hela-S3	cervix
25	chr2:30858600-30865400	Strong transcription	Primary T cells from cord blood	blood
26	chr2:30859600-30872000	Weak transcription	Fetal Stomach	stomach
27	chr2:30860200-30865000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:30860200-30866200	Weak transcription	HUVEC	blood vessel
29	chr2:30860400-30878200	Weak transcription	NHLF	lung
30	chr2:30861400-30876800	Weak transcription	Fetal Heart	heart
31	chr2:30861600-30864800	Strong transcription	Primary B cells from cord blood	blood
32	chr2:30861600-30864800	Weak transcription	NHEK	skin
33	chr2:30861600-30865200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:30861600-30872200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr2:30862000-30868600	Weak transcription	Brain Substantia Nigra	brain
36	chr2:30862200-30865200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:30862400-30864800	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr2:30862400-30866800	Weak transcription	HMEC	breast
39	chr2:30862400-30868400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:30862600-30865000	Weak transcription	Fetal Kidney	kidney
41	chr2:30862600-30865200	Strong transcription	Primary hematopoietic stem cells	blood
42	chr2:30862800-30865200	Strong transcription	Dnd41	blood
43	chr2:30862800-30865600	Strong transcription	Fetal Lung	lung
44	chr2:30863000-30864800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:30863000-30865200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:30863000-30865200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:30863000-30865200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:30863000-30865200	Strong transcription	A549	lung
49	chr2:30863000-30865400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:30863000-30866000	Weak transcription	Adipose Nuclei	Adipose

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