Variant report

Variant	esv3334375
Chromosome Location	chr7:40257879-40259056
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78265241	chr7:40257901-40257902	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs571655924	chr7:40257905-40257906	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs537601933	chr7:40257952-40257953	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs193017535	chr7:40257969-40257970	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs185741935	chr7:40258052-40258053	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs113396174	chr7:40258053-40258054	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs115162216	chr7:40258063-40258064	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs569903267	chr7:40258088-40258089	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs113123925	chr7:40258089-40258090	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs533161401	chr7:40258112-40258113	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs187301952	chr7:40258144-40258145	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs551411833	chr7:40258217-40258218	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs112555656	chr7:40258291-40258292	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs192243082	chr7:40258346-40258347	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs529740883	chr7:40258386-40258387	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs540204639	chr7:40258393-40258394	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs566619565	chr7:40258413-40258414	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs183969189	chr7:40258414-40258415	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs534338453	chr7:40258429-40258430	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs188740959	chr7:40258447-40258448	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs181386077	chr7:40258466-40258467	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs530994229	chr7:40258499-40258500	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs114661645	chr7:40258527-40258528	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs184141273	chr7:40258534-40258535	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs536262947	chr7:40258535-40258536	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs553290313	chr7:40258566-40258567	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs144612497	chr7:40258583-40258584	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs538969284	chr7:40258589-40258590	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs200648782	chr7:40258595-40258596	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs558564619	chr7:40258600-40258601	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575428242	chr7:40258605-40258606	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148494145	chr7:40258616-40258617	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189524034	chr7:40258683-40258684	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574548433	chr7:40258691-40258692	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs117227454	chr7:40258702-40258703	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181989346	chr7:40258705-40258706	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532005939	chr7:40258721-40258722	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545718535	chr7:40258743-40258744	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565418670	chr7:40258826-40258827	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531033132	chr7:40258882-40258883	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550728729	chr7:40258938-40258939	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561056261	chr7:40258966-40258967	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4723934	chr7:40259032-40259033	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:83)

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

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40221600-40259800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:40236600-40264400	Weak transcription	Pancreas	Pancrea
3	chr7:40240400-40260800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:40240600-40259200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:40241400-40258800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:40242400-40258600	Weak transcription	HSMM	muscle
7	chr7:40242800-40259800	Weak transcription	Ovary	ovary
8	chr7:40251400-40259000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:40251400-40264200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:40251800-40258600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:40251800-40259000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:40251800-40259000	Weak transcription	Osteobl	bone
13	chr7:40253200-40264000	Weak transcription	Aorta	Aorta
14	chr7:40256000-40258000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:40256200-40259400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:40256400-40259000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:40256600-40259600	Weak transcription	HepG2	liver
18	chr7:40256800-40258800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:40256800-40258800	Strong transcription	Fetal Intestine Large	intestine
20	chr7:40257200-40258800	ZNF genes & repeats	Fetal Intestine Small	intestine
21	chr7:40257600-40258000	Weak transcription	Liver	Liver
22	chr7:40258000-40258200	Strong transcription	Liver	Liver
23	chr7:40258000-40258600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:40258200-40263400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:40258200-40264000	Weak transcription	Liver	Liver
26	chr7:40258400-40258800	ZNF genes & repeats	Fetal Stomach	stomach
27	chr7:40258400-40258800	ZNF genes & repeats	Lung	lung
28	chr7:40258600-40259000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:40258600-40260600	Genic enhancers	HSMM	muscle
30	chr7:40258600-40262400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:40258800-40259800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr7:40258800-40263200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:40258800-40271800	Weak transcription	Fetal Intestine Large	intestine
34	chr7:40258800-40273800	Weak transcription	Fetal Intestine Small	intestine
35	chr7:40259000-40259200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:40259000-40260600	Enhancers	HSMMtube	muscle
37	chr7:40259000-40260600	Enhancers	NHDF-Ad	bronchial
38	chr7:40259000-40261600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:40259000-40262600	Enhancers	Osteobl	bone
40	chr7:40259000-40262800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:40259000-40263400	Enhancers	HMEC	breast
42	chr7:40259000-40264200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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