Variant report

Variant	nsv519087
Chromosome Location	chr7:7196848-7200881
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	chr7:7189739..7192550-chr7:7197850..7200790,2	K562	blood:
2	chr7:7199593..7201382-chr7:7207230..7208864,2	K562	blood:

Extended variants
information (count: 152 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:152 , 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	rs2163638	chr7:7196848-7196849	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560530824	chr7:7196853-7196854	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572508082	chr7:7196855-7196856	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546031433	chr7:7196858-7196859	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11773545	chr7:7196878-7196879	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs531847224	chr7:7196884-7196885	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183257852	chr7:7196952-7196953	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17250084	chr7:7196957-7196958	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs186506472	chr7:7196977-7196978	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373258199	chr7:7197003-7197004	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs115486029	chr7:7197012-7197013	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs191757974	chr7:7197017-7197018	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs533043542	chr7:7197084-7197085	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs551226911	chr7:7197088-7197089	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs57915306	chr7:7197116-7197117	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs536872568	chr7:7197126-7197127	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs555667507	chr7:7197200-7197201	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs567575969	chr7:7197240-7197241	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs145405013	chr7:7197260-7197261	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs62453504	chr7:7197263-7197264	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs572392509	chr7:7197313-7197314	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs79568927	chr7:7197335-7197336	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs17164011	chr7:7197390-7197391	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs567030864	chr7:7197398-7197399	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs555148592	chr7:7197415-7197416	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576550399	chr7:7197442-7197443	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146520289	chr7:7197446-7197447	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374627174	chr7:7197478-7197479	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17164012	chr7:7197491-7197492	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs558438696	chr7:7197526-7197527	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17309555	chr7:7197543-7197544	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs573935636	chr7:7197549-7197550	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558912070	chr7:7197571-7197572	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376804313	chr7:7197580-7197581	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141077007	chr7:7197630-7197631	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551429753	chr7:7197631-7197632	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569667539	chr7:7197722-7197723	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115655136	chr7:7197768-7197769	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59413790	chr7:7197793-7197794	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs567516937	chr7:7197830-7197831	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs118058583	chr7:7197908-7197909	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536499386	chr7:7198024-7198025	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375581879	chr7:7198026-7198027	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62453505	chr7:7198034-7198035	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs12536320	chr7:7198043-7198044	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs12536325	chr7:7198073-7198074	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs114612389	chr7:7198077-7198078	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543560833	chr7:7198090-7198091	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371170214	chr7:7198123-7198124	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12536346	chr7:7198131-7198132	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	17363583	CNVD
Lung adenocarcinoma	21935476	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7189200-7199600	Weak transcription	K562	blood
2	chr7:7195800-7197000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:7195800-7197000	Enhancers	GM12878-XiMat	blood
4	chr7:7196200-7198200	Flanking Active TSS	Osteobl	bone
5	chr7:7196200-7200200	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr7:7196400-7197000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:7196400-7197000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:7196400-7197000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr7:7196400-7197000	Enhancers	Thymus	Thymus
10	chr7:7196400-7197000	Enhancers	NHEK	skin
11	chr7:7196400-7197600	Enhancers	Stomach Mucosa	stomach
12	chr7:7196400-7197800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr7:7196400-7197800	Flanking Active TSS	HepG2	liver
14	chr7:7196400-7198000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:7196400-7198000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr7:7196400-7198000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr7:7196400-7198000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr7:7196400-7198000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:7196400-7198000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr7:7196400-7198000	Enhancers	Small Intestine	intestine
21	chr7:7196400-7198400	Enhancers	Primary hematopoietic stem cells	blood
22	chr7:7196400-7200600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr7:7196600-7197000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr7:7196600-7197000	Enhancers	HSMM	muscle
25	chr7:7196600-7198000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:7196600-7198000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:7196600-7198000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:7196600-7200600	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr7:7196800-7197000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:7196800-7197000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr7:7196800-7197000	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr7:7196800-7197000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr7:7196800-7197000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr7:7196800-7197000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:7196800-7197000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:7196800-7197000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:7196800-7197000	Flanking Active TSS	Fetal Thymus	thymus
38	chr7:7196800-7197000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr7:7196800-7197000	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr7:7196800-7197000	Flanking Active TSS	HMEC	breast
41	chr7:7196800-7197000	Flanking Active TSS	NHDF-Ad	bronchial
42	chr7:7196800-7197000	Flanking Active TSS	NHLF	lung
43	chr7:7196800-7197200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:7196800-7197200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:7196800-7197200	Enhancers	Duodenum Mucosa	Duodenum
46	chr7:7196800-7197200	Active TSS	HSMMtube	muscle
47	chr7:7196800-7197400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr7:7196800-7197400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:7196800-7197400	Active TSS	Dnd41	blood
50	chr7:7196800-7198000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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