Variant report

Variant	nsv1018250
Chromosome Location	chr7:15648861-15667882
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:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:8)

No data

(count:6 , 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	chr7:15652713..15654226-chr7:15661044..15663947,2	K562	blood:
5	chr7:15653902..15655614-chr7:15659174..15660704,2	K562	blood:
6	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-301a-3p	chr7:15651731-15651725
2	MEOX2	hsa-miR-130a-3p	chr7:15651572-15651591
3	MEOX2	hsa-miR-301a-3p	chr7:15651572-15651592
4	MEOX2	hsa-miR-301a-3p	chr7:15651725-15651745
5	MEOX2	hsa-miR-130a-3p	chr7:15651578-15651572
6	MEOX2	hsa-miR-301a-3p	chr7:15651578-15651572
7	MEOX2	hsa-miR-130a-3p	chr7:15651725-15651744
8	MEOX2	hsa-miR-130a-3p	chr7:15651731-15651725

Extended variants
information (count: 937 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:937 , 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	rs6946099	chr7:15648861-15648862	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181450601	chr7:15648886-15648887	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs550932985	chr7:15648888-15648889	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs566244978	chr7:15648902-15648903	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs186913217	chr7:15648906-15648907	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs549165970	chr7:15648914-15648915	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs138197223	chr7:15648925-15648926	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs11525793	chr7:15648935-15648936	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568711406	chr7:15648984-15648985	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs556534669	chr7:15648989-15648990	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs370675597	chr7:15648995-15648996	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs537892769	chr7:15649042-15649043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141845485	chr7:15649062-15649063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57830137	chr7:15649088-15649089	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs199852073	chr7:15649096-15649097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564624658	chr7:15649124-15649125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572503782	chr7:15649134-15649135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150602972	chr7:15649162-15649163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571751570	chr7:15649185-15649186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561422206	chr7:15649193-15649194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139798614	chr7:15649270-15649271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372438047	chr7:15649311-15649312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543973738	chr7:15649342-15649343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149789263	chr7:15649393-15649394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146328415	chr7:15649411-15649412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550969989	chr7:15649426-15649427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559672918	chr7:15649470-15649471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527277252	chr7:15649472-15649473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117915025	chr7:15649496-15649497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191455759	chr7:15649527-15649528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368522035	chr7:15649592-15649593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17168897	chr7:15649608-15649609	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs373558285	chr7:15649616-15649617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183766370	chr7:15649631-15649632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571582509	chr7:15649640-15649641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534368617	chr7:15649643-15649644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187549081	chr7:15649656-15649657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139720133	chr7:15649672-15649673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369190840	chr7:15649682-15649683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554379307	chr7:15649709-15649710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144394991	chr7:15649713-15649714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146647029	chr7:15649736-15649737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79780747	chr7:15649738-15649739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75006831	chr7:15649777-15649778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577124475	chr7:15649789-15649790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114002955	chr7:15649790-15649791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559986810	chr7:15649812-15649813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372576966	chr7:15649818-15649819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149206856	chr7:15649838-15649839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542588856	chr7:15649888-15649889	Weak transcription Strong 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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15640000-15651200	Weak transcription	Adipose Nuclei	Adipose
2	chr7:15640000-15662400	Weak transcription	Fetal Muscle Leg	muscle
3	chr7:15640000-15663800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr7:15645400-15668200	Weak transcription	Right Ventricle	heart
5	chr7:15647600-15662400	Weak transcription	Left Ventricle	heart
6	chr7:15647800-15668000	Weak transcription	Fetal Stomach	stomach
7	chr7:15648000-15659800	Weak transcription	NHDF-Ad	bronchial
8	chr7:15648000-15664000	Weak transcription	Osteobl	bone
9	chr7:15648600-15649000	Active TSS	A549	lung
10	chr7:15648800-15649000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:15648800-15649000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:15648800-15652400	Strong transcription	Fetal Lung	lung
13	chr7:15649000-15651600	Weak transcription	A549	lung
14	chr7:15651200-15652000	Strong transcription	Adipose Nuclei	Adipose
15	chr7:15651600-15652400	Active TSS	A549	lung
16	chr7:15652000-15683400	Weak transcription	Adipose Nuclei	Adipose
17	chr7:15652400-15656600	Weak transcription	Fetal Lung	lung
18	chr7:15656600-15657800	Genic enhancers	Fetal Lung	lung
19	chr7:15657200-15657400	Enhancers	Psoas Muscle	Psoas
20	chr7:15657400-15658200	Enhancers	Liver	Liver
21	chr7:15657400-15673000	Weak transcription	Psoas Muscle	Psoas
22	chr7:15657800-15658200	Enhancers	Fetal Lung	lung
23	chr7:15658200-15661800	Weak transcription	Fetal Lung	lung
24	chr7:15659800-15660200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:15659800-15660800	Genic enhancers	NHDF-Ad	bronchial
26	chr7:15659800-15661400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr7:15660000-15660200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:15660000-15660800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:15660000-15661400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:15660200-15660400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:15660200-15661400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:15660200-15661400	Enhancers	HUVEC	blood vessel
33	chr7:15660400-15664800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:15660800-15661200	Enhancers	NHDF-Ad	bronchial
35	chr7:15660800-15668200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:15661200-15664000	Weak transcription	NHDF-Ad	bronchial
37	chr7:15661400-15661600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:15661400-15664000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr7:15661400-15665200	Weak transcription	HUVEC	blood vessel
40	chr7:15661400-15668000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:15661800-15662800	Strong transcription	Fetal Lung	lung
42	chr7:15662400-15662800	ZNF genes & repeats	Left Ventricle	heart
43	chr7:15662400-15664400	Strong transcription	Fetal Muscle Leg	muscle
44	chr7:15662800-15664000	Weak transcription	Fetal Lung	lung
45	chr7:15662800-15664000	Strong transcription	Left Ventricle	heart
46	chr7:15663400-15666400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:15663800-15666600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr7:15664000-15664200	ZNF genes & repeats	Left Ventricle	heart
49	chr7:15664000-15664200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
50	chr7:15664000-15664400	Genic enhancers	Osteobl	bone

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