Variant report

Variant	esv3477093
Chromosome Location	chr7:4157903-4160633
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	chr7:4159770..4161422-chr7:4162793..4165151,2	K562	blood:

Extended variants
information (count: 143 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367618180	chr7:4157936-4157937	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs567558578	chr7:4157953-4157954	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs191609252	chr7:4157970-4157971	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs550028110	chr7:4158024-4158025	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184125165	chr7:4158037-4158038	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538869773	chr7:4158102-4158103	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78534450	chr7:4158134-4158135	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566027783	chr7:4158151-4158152	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534921200	chr7:4158167-4158168	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554864181	chr7:4158180-4158181	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574365581	chr7:4158204-4158205	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs537025154	chr7:4158212-4158213	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs372243507	chr7:4158239-4158240	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs573669295	chr7:4158251-4158252	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs529910705	chr7:4158253-4158254	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs556810563	chr7:4158254-4158255	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs576858153	chr7:4158255-4158256	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs548399975	chr7:4158261-4158262	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs545240353	chr7:4158268-4158269	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs188137773	chr7:4158282-4158283	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs192142046	chr7:4158307-4158308	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs75365224	chr7:4158319-4158320	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs561598472	chr7:4158328-4158329	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs530067954	chr7:4158344-4158345	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs114207136	chr7:4158351-4158352	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs57888190	chr7:4158360-4158361	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs539845020	chr7:4158364-4158365	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs532649176	chr7:4158372-4158373	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs552658207	chr7:4158472-4158473	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs184512469	chr7:4158495-4158496	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs561849135	chr7:4158497-4158498	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs190246461	chr7:4158527-4158528	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs548211992	chr7:4158556-4158557	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs568325314	chr7:4158559-4158560	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs536684942	chr7:4158570-4158571	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs367972826	chr7:4158582-4158583	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs571269100	chr7:4158600-4158601	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs34918937	chr7:4158607-4158608	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs556909741	chr7:4158609-4158610	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs36007114	chr7:4158670-4158671	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs112769424	chr7:4158696-4158697	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs142988241	chr7:4158700-4158701	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs182501344	chr7:4158725-4158726	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs555744730	chr7:4158735-4158736	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs572325539	chr7:4158795-4158796	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs147320986	chr7:4158804-4158805	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs561456629	chr7:4158809-4158810	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs575068041	chr7:4158818-4158819	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs543498501	chr7:4158902-4158903	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs563704158	chr7:4158905-4158906	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4132400-4180200	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:4142400-4158800	Weak transcription	Fetal Brain Female	brain
3	chr7:4148600-4158400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:4151400-4158000	Weak transcription	Adipose Nuclei	Adipose
5	chr7:4151800-4158800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr7:4152000-4162400	Weak transcription	Left Ventricle	heart
7	chr7:4154000-4158800	Weak transcription	Fetal Intestine Small	intestine
8	chr7:4154000-4159600	Weak transcription	Fetal Intestine Large	intestine
9	chr7:4154400-4159000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:4154600-4158200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:4154600-4158800	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:4154600-4159800	Weak transcription	Fetal Lung	lung
13	chr7:4154600-4191600	Weak transcription	Gastric	stomach
14	chr7:4155200-4163600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr7:4156600-4158800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:4156600-4174000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr7:4156800-4167000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:4157200-4159200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
19	chr7:4157400-4167400	Weak transcription	Pancreas	Pancrea
20	chr7:4157400-4169200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:4157600-4158200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:4157600-4163400	Weak transcription	Spleen	Spleen
23	chr7:4157600-4165600	Weak transcription	Aorta	Aorta
24	chr7:4158000-4158200	Enhancers	HSMMtube	muscle
25	chr7:4158400-4158600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:4158800-4159600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:4159800-4160000	ZNF genes & repeats	Fetal Lung	lung

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