Variant report

Variant	nsv1015701
Chromosome Location	chr7:40409214-40474936
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:57473196..57474009-chr7:40413360..40414065,2	MCF-7	breast:
2	chr7:39988445..39991258-chr7:40413776..40416750,2	K562	blood:

Variant related genes	Relation type
ENSG00000065883	chromatin interactions
ENSG00000259826	chromatin interactions

Extended variants
information (count: 1651 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1651 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532388089	chr7:40409220-40409221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149591219	chr7:40409229-40409230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181501878	chr7:40409233-40409234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531387716	chr7:40409238-40409239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547910105	chr7:40409240-40409241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187035157	chr7:40409241-40409242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367734689	chr7:40409271-40409272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557921422	chr7:40409370-40409371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6965764	chr7:40409406-40409407	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs540795598	chr7:40409537-40409538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567057265	chr7:40409539-40409540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6966371	chr7:40409549-40409550	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs558903352	chr7:40409571-40409572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146103782	chr7:40409576-40409577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544813919	chr7:40409616-40409617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75804118	chr7:40409660-40409661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574944754	chr7:40409723-40409724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552558181	chr7:40409729-40409730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560509690	chr7:40409739-40409740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577078446	chr7:40409799-40409800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546112532	chr7:40409831-40409832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12666116	chr7:40409837-40409838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562421320	chr7:40409897-40409898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191071351	chr7:40409900-40409901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547973514	chr7:40409936-40409937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12666594	chr7:40409939-40409940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561458119	chr7:40409946-40409947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527341195	chr7:40409948-40409949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547102448	chr7:40409971-40409972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140076507	chr7:40409972-40409973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368922005	chr7:40409991-40409992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539038911	chr7:40409993-40409994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552877500	chr7:40410103-40410104	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143634863	chr7:40410163-40410164	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371952429	chr7:40410173-40410174	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570832407	chr7:40410195-40410196	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371045047	chr7:40410204-40410205	Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148116234	chr7:40410208-40410209	Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569559233	chr7:40410250-40410251	Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538448855	chr7:40410283-40410284	Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56719381	chr7:40410309-40410310	Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532044756	chr7:40410364-40410365	Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574369915	chr7:40410426-40410427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555152808	chr7:40410473-40410474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181382612	chr7:40410582-40410583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143621154	chr7:40410588-40410589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73136922	chr7:40410630-40410631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs374153439	chr7:40410660-40410661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553959983	chr7:40410673-40410674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185272250	chr7:40410859-40410860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40408800-40409600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr7:40408800-40409600	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr7:40409000-40409800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:40409000-40410400	Enhancers	Liver	Liver
5	chr7:40409200-40410200	Enhancers	HepG2	liver
6	chr7:40409400-40410000	Enhancers	Pancreas	Pancrea
7	chr7:40409600-40409800	Enhancers	Fetal Lung	lung
8	chr7:40409800-40411000	Weak transcription	Fetal Lung	lung
9	chr7:40410000-40410200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr7:40410000-40410400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:40410200-40410400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
12	chr7:40410200-40411800	Weak transcription	HepG2	liver
13	chr7:40410400-40411800	Weak transcription	Liver	Liver
14	chr7:40411000-40412000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:40411000-40412000	Enhancers	Fetal Lung	lung
16	chr7:40411000-40412200	Enhancers	NHDF-Ad	bronchial
17	chr7:40411600-40412000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:40411600-40412000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:40411800-40412400	Enhancers	HepG2	liver
20	chr7:40411800-40412600	Enhancers	Liver	Liver
21	chr7:40412000-40414000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:40414000-40414800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:40414000-40414800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:40414400-40414800	Enhancers	HMEC	breast
25	chr7:40417000-40419400	Weak transcription	Psoas Muscle	Psoas
26	chr7:40419600-40420200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:40419600-40420400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:40420400-40420800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:40420800-40422600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:40421000-40422400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:40421200-40422000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:40436000-40437200	Enhancers	Rectal Smooth Muscle	rectum
33	chr7:40436200-40437000	Enhancers	HSMMtube	muscle
34	chr7:40436200-40437400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr7:40436400-40437000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:40436600-40437000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:40436600-40437200	Enhancers	Fetal Heart	heart
38	chr7:40436800-40437200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:40436800-40437200	Enhancers	Stomach Smooth Muscle	stomach
40	chr7:40436800-40437200	Enhancers	HSMM	muscle
41	chr7:40440400-40441800	Enhancers	HUVEC	blood vessel
42	chr7:40441000-40441200	Enhancers	NHDF-Ad	bronchial
43	chr7:40441000-40442600	Enhancers	Fetal Kidney	kidney
44	chr7:40441200-40442400	Weak transcription	NHDF-Ad	bronchial
45	chr7:40442200-40443000	Enhancers	Liver	Liver
46	chr7:40442200-40443800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:40442400-40442600	Enhancers	Psoas Muscle	Psoas
48	chr7:40442400-40442600	Enhancers	NHDF-Ad	bronchial
49	chr7:40442400-40444800	Enhancers	HepG2	liver
50	chr7:40442600-40443400	Weak transcription	NHDF-Ad	bronchial

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