Variant report

Variant	esv2761115
Chromosome Location	chr7:40398515-40427634
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	chr7:39988445..39991258-chr7:40413776..40416750,2	K562	blood:
2	chr20:57473196..57474009-chr7:40413360..40414065,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000065883	chromatin interactions
ENSG00000259826	chromatin interactions

Extended variants
information (count: 616 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:616 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148175051	chr7:40398527-40398528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376224209	chr7:40398531-40398532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73688062	chr7:40398544-40398545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs192193807	chr7:40398557-40398558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532877243	chr7:40398625-40398626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184038381	chr7:40398641-40398642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188619190	chr7:40398690-40398691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190673704	chr7:40398723-40398724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541166354	chr7:40398748-40398749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563728016	chr7:40398763-40398764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555332227	chr7:40398764-40398765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538581976	chr7:40398816-40398817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568668252	chr7:40398836-40398837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143046789	chr7:40398869-40398870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199939560	chr7:40398904-40398905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376097851	chr7:40398913-40398914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535010322	chr7:40398928-40398929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182886738	chr7:40398929-40398930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370326297	chr7:40398939-40398940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79856126	chr7:40398962-40398963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138942388	chr7:40398990-40398991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541901500	chr7:40399010-40399011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6462977	chr7:40399024-40399025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202149849	chr7:40399042-40399043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557811040	chr7:40399056-40399057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576089912	chr7:40399105-40399106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527600945	chr7:40399130-40399131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540891252	chr7:40399139-40399140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564020945	chr7:40399140-40399141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532985598	chr7:40399172-40399173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35086809	chr7:40399180-40399181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17171696	chr7:40399193-40399194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs528940795	chr7:40399194-40399195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186852705	chr7:40399208-40399209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565652894	chr7:40399235-40399236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs137978245	chr7:40399284-40399285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554540670	chr7:40399310-40399311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571140283	chr7:40399319-40399320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536479988	chr7:40399321-40399322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191738501	chr7:40399392-40399393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184352985	chr7:40399422-40399423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542279651	chr7:40399438-40399439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187696937	chr7:40399504-40399505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34398005	chr7:40399535-40399536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs112784923	chr7:40399563-40399564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149469822	chr7:40399584-40399585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564086268	chr7:40399595-40399596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533047211	chr7:40399607-40399608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143860025	chr7:40399643-40399644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563449517	chr7:40399651-40399652	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40396800-40401400	Weak transcription	HSMM	muscle
2	chr7:40397600-40398600	Weak transcription	Fetal Lung	lung
3	chr7:40398600-40398800	Enhancers	Fetal Lung	lung
4	chr7:40408800-40409600	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr7:40408800-40409600	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr7:40409000-40409800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr7:40409000-40410400	Enhancers	Liver	Liver
8	chr7:40409200-40410200	Enhancers	HepG2	liver
9	chr7:40409400-40410000	Enhancers	Pancreas	Pancrea
10	chr7:40409600-40409800	Enhancers	Fetal Lung	lung
11	chr7:40409800-40411000	Weak transcription	Fetal Lung	lung
12	chr7:40410000-40410200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
13	chr7:40410000-40410400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:40410200-40410400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
15	chr7:40410200-40411800	Weak transcription	HepG2	liver
16	chr7:40410400-40411800	Weak transcription	Liver	Liver
17	chr7:40411000-40412000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:40411000-40412000	Enhancers	Fetal Lung	lung
19	chr7:40411000-40412200	Enhancers	NHDF-Ad	bronchial
20	chr7:40411600-40412000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:40411600-40412000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:40411800-40412400	Enhancers	HepG2	liver
23	chr7:40411800-40412600	Enhancers	Liver	Liver
24	chr7:40412000-40414000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:40414000-40414800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:40414000-40414800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:40414400-40414800	Enhancers	HMEC	breast
28	chr7:40417000-40419400	Weak transcription	Psoas Muscle	Psoas
29	chr7:40419600-40420200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:40419600-40420400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:40420400-40420800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:40420800-40422600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:40421000-40422400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:40421200-40422000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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