Variant report

Variant	nsv887983
Chromosome Location	chr7:40211563-40284166
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:4)
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	chr7:40250465..40252237-chr7:40254677..40256213,2	K562	blood:
2	chr7:40250465..40252237-chr7:40254677..40256213,2	K562	blood:
3	chr7:40271921..40272777-chr7:40766227..40766815,2	MCF-7	breast:
4	chr7:40241300..40243620-chr7:40251162..40253022,2	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	chr7:40259840..40262064-chr7:40262266..40264754,2	K562	blood:
8	chr7:40259840..40262064-chr7:40262266..40264754,2	K562	blood:
9	chr7:40241300..40243620-chr7:40251162..40253022,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C7orf10-3	chr7:40220547-40220597	NONHSAT120247
2	lnc-C7orf11-8	chr7:40279515-40279605	NONHSAT120249
3	lnc-C7orf10-3	chr7:40221555-40221615	NONHSAT120247
4	lnc-C7orf11-8	chr7:40264706-40264758	NONHSAT120249

No data

Extended variants
information (count: 2645 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2645 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10235978	chr7:40211563-40211564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537824863	chr7:40211568-40211569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556326765	chr7:40211578-40211579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10236083	chr7:40211587-40211588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190715669	chr7:40211635-40211636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183927814	chr7:40211655-40211656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545881343	chr7:40211728-40211729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562686211	chr7:40211751-40211752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1973398	chr7:40211752-40211753	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1973397	chr7:40211912-40211913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs188527845	chr7:40211923-40211924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192947155	chr7:40211936-40211937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538691617	chr7:40211989-40211990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183184249	chr7:40212020-40212021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533210365	chr7:40212033-40212034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113159920	chr7:40212034-40212035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375930132	chr7:40212038-40212039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569729384	chr7:40212054-40212055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116456399	chr7:40212067-40212068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113894410	chr7:40212091-40212092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565699474	chr7:40212105-40212106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372879131	chr7:40212117-40212118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554487183	chr7:40212150-40212151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577017107	chr7:40212153-40212154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545942831	chr7:40212195-40212196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144463319	chr7:40212198-40212199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7780858	chr7:40212234-40212235	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs542330692	chr7:40212333-40212334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561911514	chr7:40212373-40212374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543000510	chr7:40212386-40212387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555224133	chr7:40212430-40212431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536976199	chr7:40212460-40212461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572445125	chr7:40212462-40212463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540966287	chr7:40212477-40212478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187301633	chr7:40212549-40212550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543429869	chr7:40212558-40212559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368525849	chr7:40212570-40212571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549969941	chr7:40212597-40212598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563498130	chr7:40212600-40212601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528976973	chr7:40212727-40212728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371627859	chr7:40212735-40212736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549098502	chr7:40212765-40212766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148398477	chr7:40212872-40212873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534658460	chr7:40212907-40212908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191387813	chr7:40212911-40212912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570766581	chr7:40212914-40212915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539759113	chr7:40212915-40212916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183958732	chr7:40212925-40212926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576256283	chr7:40212932-40212933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535569057	chr7:40212933-40212934	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:384 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40209800-40222200	Weak transcription	Fetal Intestine Large	intestine
2	chr7:40210600-40212000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:40212000-40212400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:40215000-40215800	Enhancers	Liver	Liver
5	chr7:40215200-40215400	Enhancers	HSMMtube	muscle
6	chr7:40215200-40215600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:40215200-40216200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr7:40215400-40215600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:40215400-40215800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:40215400-40215800	Enhancers	NH-A	brain
11	chr7:40215400-40234000	Weak transcription	HSMMtube	muscle
12	chr7:40215600-40216200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:40215600-40234200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:40215600-40234200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:40215800-40221800	Weak transcription	Liver	Liver
16	chr7:40215800-40234000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:40218600-40232400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:40219400-40219800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr7:40219800-40222200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:40221000-40233800	Weak transcription	Ovary	ovary
21	chr7:40221600-40259800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr7:40221800-40222600	Strong transcription	Liver	Liver
23	chr7:40221800-40224400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr7:40222000-40222600	Enhancers	Fetal Intestine Small	intestine
25	chr7:40222200-40222600	Enhancers	Fetal Intestine Large	intestine
26	chr7:40222200-40222800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr7:40222200-40222800	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr7:40222400-40222600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:40222600-40223400	Weak transcription	Fetal Intestine Small	intestine
30	chr7:40222600-40226000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:40222600-40229600	Weak transcription	Liver	Liver
32	chr7:40222600-40256800	Weak transcription	Fetal Intestine Large	intestine
33	chr7:40222800-40225800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:40222800-40229400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr7:40223400-40224200	Strong transcription	Fetal Intestine Small	intestine
36	chr7:40224200-40256200	Weak transcription	Fetal Intestine Small	intestine
37	chr7:40224800-40232200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:40225400-40239600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr7:40226000-40226200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:40226000-40226200	Weak transcription	Fetal Stomach	stomach
41	chr7:40226200-40226400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:40226200-40226400	ZNF genes & repeats	Fetal Stomach	stomach
43	chr7:40226200-40245400	Weak transcription	Left Ventricle	heart
44	chr7:40226400-40227400	Enhancers	HepG2	liver
45	chr7:40226400-40237000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:40226400-40237000	Weak transcription	Fetal Stomach	stomach
47	chr7:40227000-40233600	Weak transcription	HSMM	muscle
48	chr7:40228400-40231200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:40228400-40247800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr7:40229000-40238800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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