Variant report

Variant	nsv605949
Chromosome Location	chr7:4156501-4160114
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: 177 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6973388	chr7:4156501-4156502	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs7782357	chr7:4156514-4156515	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs569576377	chr7:4156541-4156542	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75590856	chr7:4156565-4156566	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550826550	chr7:4156570-4156571	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368298468	chr7:4156607-4156608	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs17134383	chr7:4156647-4156648	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533340914	chr7:4156684-4156685	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs55768254	chr7:4156703-4156704	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs140904428	chr7:4156717-4156718	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75599942	chr7:4156752-4156753	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567402538	chr7:4156803-4156804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536485509	chr7:4156808-4156809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534694290	chr7:4156820-4156821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556080245	chr7:4156826-4156827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576137498	chr7:4156830-4156831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7782984	chr7:4156842-4156843	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs111307528	chr7:4156927-4156928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7802650	chr7:4156935-4156936	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs557447714	chr7:4156936-4156937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541004229	chr7:4156952-4156953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138707063	chr7:4156961-4156962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2018583	chr7:4156989-4156990	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs529744835	chr7:4156998-4156999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116378089	chr7:4157022-4157023	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs562944070	chr7:4157044-4157045	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs35769263	chr7:4157060-4157061	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs369549330	chr7:4157072-4157073	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs370608820	chr7:4157078-4157079	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs146235236	chr7:4157081-4157082	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs78288934	chr7:4157088-4157089	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs571583316	chr7:4157112-4157113	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs138868446	chr7:4157140-4157141	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs538902361	chr7:4157144-4157145	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs547373093	chr7:4157220-4157221	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs182871323	chr7:4157222-4157223	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs536347313	chr7:4157251-4157252	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs556576803	chr7:4157295-4157296	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs557242556	chr7:4157307-4157308	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs112159725	chr7:4157322-4157323	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs569766900	chr7:4157342-4157343	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs575426803	chr7:4157345-4157346	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs77763711	chr7:4157346-4157347	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs572354527	chr7:4157372-4157373	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs188626534	chr7:4157403-4157404	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs554603852	chr7:4157477-4157478	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs560796565	chr7:4157554-4157555	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs574328979	chr7:4157586-4157587	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs572924981	chr7:4157641-4157642	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs376528106	chr7:4157666-4157667	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:47 , 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	chr7:4150000-4157000	Strong transcription	Pancreas	Pancrea
5	chr7:4151400-4158000	Weak transcription	Adipose Nuclei	Adipose
6	chr7:4151800-4158800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr7:4152000-4162400	Weak transcription	Left Ventricle	heart
8	chr7:4154000-4157600	Strong transcription	Aorta	Aorta
9	chr7:4154000-4158800	Weak transcription	Fetal Intestine Small	intestine
10	chr7:4154000-4159600	Weak transcription	Fetal Intestine Large	intestine
11	chr7:4154400-4159000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:4154600-4157000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:4154600-4157000	Weak transcription	Fetal Stomach	stomach
14	chr7:4154600-4157200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:4154600-4157200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:4154600-4157200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr7:4154600-4158200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:4154600-4158800	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:4154600-4159800	Weak transcription	Fetal Lung	lung
20	chr7:4154600-4191600	Weak transcription	Gastric	stomach
21	chr7:4155000-4156800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:4155200-4163600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:4155400-4157600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:4155600-4157800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:4155800-4156600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:4156200-4157200	Weak transcription	Spleen	Spleen
27	chr7:4156400-4156600	Strong transcription	Stomach Smooth Muscle	stomach
28	chr7:4156600-4158800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:4156600-4174000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr7:4156800-4167000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:4157000-4157200	Weak transcription	Pancreas	Pancrea
32	chr7:4157000-4157600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:4157000-4157600	ZNF genes & repeats	Fetal Stomach	stomach
34	chr7:4157200-4157400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:4157200-4157400	Strong transcription	Pancreas	Pancrea
36	chr7:4157200-4157400	ZNF genes & repeats	Spleen	Spleen
37	chr7:4157200-4159200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
38	chr7:4157400-4157600	Strong transcription	Spleen	Spleen
39	chr7:4157400-4167400	Weak transcription	Pancreas	Pancrea
40	chr7:4157400-4169200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:4157600-4158200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:4157600-4163400	Weak transcription	Spleen	Spleen
43	chr7:4157600-4165600	Weak transcription	Aorta	Aorta
44	chr7:4158000-4158200	Enhancers	HSMMtube	muscle
45	chr7:4158400-4158600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:4158800-4159600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:4159800-4160000	ZNF genes & repeats	Fetal Lung	lung

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