Variant report

Variant	nsv464392
Chromosome Location	chr7:15642053-15654614
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:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:8)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:15647591..15649240-chr7:15653736..15655611,2	K562	blood:
2	chr7:15653902..15655614-chr7:15659174..15660704,2	K562	blood:
3	chr7:15652713..15654226-chr7:15661044..15663947,2	K562	blood:
4	chr7:15647591..15649240-chr7:15653736..15655611,2	K562	blood:

No data

(count:8 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	MEOX2	hsa-miR-130a-3p	chr7:15651725-15651744
2	MEOX2	hsa-miR-301a-3p	chr7:15651725-15651745
3	MEOX2	hsa-miR-301a-3p	chr7:15651731-15651725
4	MEOX2	hsa-miR-130a-3p	chr7:15651731-15651725
5	MEOX2	hsa-miR-301a-3p	chr7:15651572-15651592
6	MEOX2	hsa-miR-130a-3p	chr7:15651572-15651591
7	MEOX2	hsa-miR-301a-3p	chr7:15651578-15651572
8	MEOX2	hsa-miR-130a-3p	chr7:15651578-15651572

Extended variants
information (count: 589 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:589 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11979537	chr7:15642053-15642054	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538498267	chr7:15642060-15642061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs202008550	chr7:15642073-15642074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200315197	chr7:15642077-15642078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556685710	chr7:15642109-15642110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374378368	chr7:15642119-15642120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545155391	chr7:15642160-15642161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530088181	chr7:15642168-15642169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs984954	chr7:15642172-15642173	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs539053403	chr7:15642201-15642202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557868280	chr7:15642214-15642215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368754188	chr7:15642219-15642220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191975184	chr7:15642220-15642221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540057308	chr7:15642262-15642263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552713815	chr7:15642310-15642311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561510053	chr7:15642364-15642365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570925392	chr7:15642368-15642369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182651296	chr7:15642411-15642412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9648205	chr7:15642460-15642461	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs78336494	chr7:15642473-15642474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186119103	chr7:15642489-15642490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73679671	chr7:15642498-15642499	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs190229455	chr7:15642503-15642504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527757863	chr7:15642534-15642535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145873814	chr7:15642543-15642544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552713263	chr7:15642544-15642545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571372785	chr7:15642548-15642549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535233043	chr7:15642583-15642584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531808687	chr7:15642588-15642589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550489197	chr7:15642622-15642623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571832462	chr7:15642647-15642648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536895372	chr7:15642660-15642661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553407112	chr7:15642671-15642672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7811936	chr7:15642727-15642728	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs557299812	chr7:15642728-15642729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7795235	chr7:15642730-15642731	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs533600512	chr7:15642741-15642742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17168887	chr7:15642780-15642781	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs371903141	chr7:15642782-15642783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544069347	chr7:15642795-15642796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182772202	chr7:15642823-15642824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374136514	chr7:15642849-15642850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140702158	chr7:15642856-15642857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144606804	chr7:15642883-15642884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187465683	chr7:15642884-15642885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138507756	chr7:15642901-15642902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543189807	chr7:15642938-15642939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561356686	chr7:15642946-15642947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7776567	chr7:15642998-15642999	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs192016324	chr7:15643006-15643007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15630200-15648800	Weak transcription	Fetal Lung	lung
2	chr7:15640000-15651200	Weak transcription	Adipose Nuclei	Adipose
3	chr7:15640000-15662400	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:15640000-15663800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr7:15641800-15642400	Enhancers	Fetal Brain Female	brain
6	chr7:15641800-15643000	Enhancers	Fetal Heart	heart
7	chr7:15642000-15643400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:15642000-15643400	Enhancers	NHDF-Ad	bronchial
9	chr7:15642600-15643200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:15642600-15643400	Enhancers	Osteobl	bone
11	chr7:15643200-15647000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:15643400-15646800	Weak transcription	NHDF-Ad	bronchial
13	chr7:15643400-15647600	Weak transcription	Osteobl	bone
14	chr7:15645400-15668200	Weak transcription	Right Ventricle	heart
15	chr7:15646600-15646800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:15646800-15647000	Enhancers	NHDF-Ad	bronchial
17	chr7:15647000-15647400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:15647000-15647400	Weak transcription	NHDF-Ad	bronchial
19	chr7:15647000-15647600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:15647000-15648000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr7:15647000-15648200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:15647200-15647400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:15647400-15648000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:15647400-15648000	Enhancers	NHDF-Ad	bronchial
25	chr7:15647400-15648200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr7:15647600-15647800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr7:15647600-15647800	Enhancers	Fetal Stomach	stomach
28	chr7:15647600-15647800	Enhancers	HSMMtube	muscle
29	chr7:15647600-15648000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr7:15647600-15648000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr7:15647600-15648000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:15647600-15648000	Enhancers	Osteobl	bone
33	chr7:15647600-15662400	Weak transcription	Left Ventricle	heart
34	chr7:15647800-15648600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr7:15647800-15648800	Active TSS	K562	blood
36	chr7:15647800-15668000	Weak transcription	Fetal Stomach	stomach
37	chr7:15648000-15648200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:15648000-15648400	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr7:15648000-15648800	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr7:15648000-15648800	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr7:15648000-15659800	Weak transcription	NHDF-Ad	bronchial
42	chr7:15648000-15664000	Weak transcription	Osteobl	bone
43	chr7:15648200-15648800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:15648600-15649000	Active TSS	A549	lung
45	chr7:15648800-15649000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr7:15648800-15649000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:15648800-15652400	Strong transcription	Fetal Lung	lung
48	chr7:15649000-15651600	Weak transcription	A549	lung
49	chr7:15651200-15652000	Strong transcription	Adipose Nuclei	Adipose
50	chr7:15651600-15652400	Active TSS	A549	lung

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