Variant report

Variant	nsv517001
Chromosome Location	chr7:4247497-4248681
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	chr7:4243060..4244953-chr7:4246310..4247976,2	K562	blood:
2	chr7:4243767..4246398-chr7:4247420..4249656,2	MCF-7	breast:

Extended variants
information (count: 92 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs886731	chr7:4247497-4247498	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79921366	chr7:4247500-4247501	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141983585	chr7:4247506-4247507	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144155361	chr7:4247534-4247535	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546700938	chr7:4247548-4247549	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116818471	chr7:4247554-4247555	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535866860	chr7:4247557-4247558	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555339442	chr7:4247573-4247574	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368882096	chr7:4247593-4247594	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537779576	chr7:4247596-4247597	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557981944	chr7:4247624-4247625	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577920890	chr7:4247634-4247635	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540282908	chr7:4247649-4247650	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553926102	chr7:4247657-4247658	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs875351	chr7:4247660-4247661	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs542591232	chr7:4247662-4247663	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201889865	chr7:4247682-4247683	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200879864	chr7:4247717-4247718	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561501706	chr7:4247738-4247739	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143290843	chr7:4247745-4247746	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528174685	chr7:4247747-4247748	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148337133	chr7:4247757-4247758	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140491954	chr7:4247760-4247761	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376246846	chr7:4247766-4247767	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370612981	chr7:4247783-4247784	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374134751	chr7:4247792-4247793	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113117904	chr7:4247793-4247794	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375950389	chr7:4247796-4247797	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370302552	chr7:4247799-4247800	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201661973	chr7:4247800-4247801	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113317033	chr7:4247805-4247806	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79032225	chr7:4247816-4247817	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199589804	chr7:4247821-4247822	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199608736	chr7:4247834-4247835	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200418130	chr7:4247853-4247854	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371621043	chr7:4247858-4247859	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529405952	chr7:4247863-4247864	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549339715	chr7:4247868-4247869	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375894303	chr7:4247869-4247870	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368890852	chr7:4247870-4247871	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138576249	chr7:4247873-4247874	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6952612	chr7:4247880-4247881	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs373454293	chr7:4247890-4247891	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376434386	chr7:4247901-4247902	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551701819	chr7:4247905-4247906	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112052014	chr7:4247937-4247938	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533990735	chr7:4247962-4247963	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188800774	chr7:4247974-4247975	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541099256	chr7:4248006-4248007	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536007486	chr7:4248019-4248020	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Glioblastoma multiforme	21525872	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4229800-4268400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:4235800-4287200	Weak transcription	Gastric	stomach
3	chr7:4241600-4255400	Weak transcription	Esophagus	oesophagus
4	chr7:4242400-4247800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:4242600-4250000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:4242800-4267200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:4243000-4247800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:4243000-4248400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:4243800-4250600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:4243800-4266000	Weak transcription	Fetal Brain Female	brain
11	chr7:4244000-4255000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:4244400-4283800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr7:4244600-4251200	Strong transcription	Fetal Stomach	stomach
14	chr7:4244800-4247800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr7:4244800-4247800	Weak transcription	Fetal Intestine Small	intestine
16	chr7:4244800-4248400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:4244800-4250600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:4244800-4253200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr7:4244800-4265000	Weak transcription	Brain Germinal Matrix	brain
20	chr7:4244800-4283800	Weak transcription	Right Ventricle	heart
21	chr7:4245000-4248000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:4245000-4250200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:4245800-4249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:4245800-4250000	Weak transcription	Pancreas	Pancrea
25	chr7:4246000-4250800	Strong transcription	Spleen	Spleen
26	chr7:4246400-4251000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:4246800-4248400	Strong transcription	Fetal Lung	lung
28	chr7:4247400-4251000	Strong transcription	Aorta	Aorta
29	chr7:4247800-4248400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:4247800-4250800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:4247800-4250800	Strong transcription	Fetal Intestine Small	intestine
32	chr7:4248000-4249400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:4248000-4249800	Weak transcription	Adipose Nuclei	Adipose
34	chr7:4248200-4251800	Weak transcription	Fetal Intestine Large	intestine
35	chr7:4248400-4249400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:4248400-4250000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:4248400-4250000	Weak transcription	Fetal Lung	lung
38	chr7:4248400-4250800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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