Variant report

Variant	nsv887984
Chromosome Location	chr7:40227307-40284166
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:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:40259840..40262064-chr7:40262266..40264754,2	K562	blood:
2	chr7:40241300..40243620-chr7:40251162..40253022,2	K562	blood:
3	chr7:40241300..40243620-chr7:40251162..40253022,2	K562	blood:
4	chr7:40250465..40252237-chr7:40254677..40256213,2	K562	blood:
5	chr7:40271945..40272762-chr7:40522914..40523878,2	MCF-7	breast:
6	chr7:40271902..40272542-chr7:40644343..40645096,2	MCF-7	breast:
7	chr7:40271921..40272777-chr7:40766227..40766815,2	MCF-7	breast:
8	chr7:40259840..40262064-chr7:40262266..40264754,2	K562	blood:
9	chr7:40250465..40252237-chr7:40254677..40256213,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C7orf11-8	chr7:40264706-40264758	NONHSAT120249
2	lnc-C7orf11-8	chr7:40279515-40279605	NONHSAT120249

No data

Extended variants
information (count: 2108 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2108 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2056775	chr7:40227307-40227308	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550054789	chr7:40227327-40227328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs62456120	chr7:40227386-40227387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570138415	chr7:40227390-40227391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374281250	chr7:40227506-40227507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535808947	chr7:40227513-40227514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190308962	chr7:40227561-40227562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572348535	chr7:40227609-40227610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181181826	chr7:40227618-40227619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111514707	chr7:40227620-40227621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367743986	chr7:40227632-40227633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186692785	chr7:40227633-40227634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6962410	chr7:40227695-40227696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs189653941	chr7:40227708-40227709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182337594	chr7:40227714-40227715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377319284	chr7:40227726-40227727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542190042	chr7:40227757-40227758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186242615	chr7:40227758-40227759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190709227	chr7:40227760-40227761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117708232	chr7:40227761-40227762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184082488	chr7:40227771-40227772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188233722	chr7:40227803-40227804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193174297	chr7:40227804-40227805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570023120	chr7:40227850-40227851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182876521	chr7:40227859-40227860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549381700	chr7:40227860-40227861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566119739	chr7:40227898-40227899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370258889	chr7:40227910-40227911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138579332	chr7:40227912-40227913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541476805	chr7:40227925-40227926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143928089	chr7:40227932-40227933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536808745	chr7:40227936-40227937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557143955	chr7:40227952-40227953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529624624	chr7:40227964-40227965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542350616	chr7:40227969-40227970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371476138	chr7:40227976-40227977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147264387	chr7:40227979-40227980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558915993	chr7:40227998-40227999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs644966	chr7:40228028-40228029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs60252112	chr7:40228032-40228033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35948652	chr7:40228034-40228035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544993739	chr7:40228050-40228051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564584016	chr7:40228051-40228052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368991810	chr7:40228053-40228054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373608132	chr7:40228054-40228055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147109282	chr7:40228055-40228056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs645016	chr7:40228058-40228059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62456121	chr7:40228062-40228063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34697046	chr7:40228066-40228067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78060149	chr7:40228078-40228079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	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
Autism	22495311	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40215400-40234000	Weak transcription	HSMMtube	muscle
2	chr7:40215600-40234200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:40215600-40234200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:40215800-40234000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:40218600-40232400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:40221000-40233800	Weak transcription	Ovary	ovary
7	chr7:40221600-40259800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:40222600-40229600	Weak transcription	Liver	Liver
9	chr7:40222600-40256800	Weak transcription	Fetal Intestine Large	intestine
10	chr7:40222800-40229400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:40224200-40256200	Weak transcription	Fetal Intestine Small	intestine
12	chr7:40224800-40232200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:40225400-40239600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:40226200-40245400	Weak transcription	Left Ventricle	heart
15	chr7:40226400-40227400	Enhancers	HepG2	liver
16	chr7:40226400-40237000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:40226400-40237000	Weak transcription	Fetal Stomach	stomach
18	chr7:40227000-40233600	Weak transcription	HSMM	muscle
19	chr7:40228400-40231200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:40228400-40247800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr7:40229000-40238800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:40229400-40230200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:40229600-40230800	Strong transcription	Liver	Liver
24	chr7:40230200-40237000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:40230800-40257000	Weak transcription	Liver	Liver
26	chr7:40231200-40232800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:40231800-40232400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:40232000-40232200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr7:40232000-40232200	Enhancers	NHDF-Ad	bronchial
30	chr7:40232200-40232800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:40232400-40232600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:40232400-40232600	Enhancers	Aorta	Aorta
33	chr7:40232400-40232800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:40232400-40234200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:40232600-40240000	Weak transcription	Aorta	Aorta
36	chr7:40232800-40233800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:40232800-40233800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:40232800-40233800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr7:40232800-40233800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:40232800-40233800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:40233600-40234600	Enhancers	NHEK	skin
42	chr7:40233600-40235600	Enhancers	HSMM	muscle
43	chr7:40233800-40234200	Enhancers	Ovary	ovary
44	chr7:40233800-40234600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:40233800-40234600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:40233800-40234600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:40233800-40235200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:40233800-40235200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:40233800-40241400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr7:40234000-40234600	Enhancers	HMEC	breast

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