Variant report

Variant	nsv523246
Chromosome Location	chr7:87076587-87077996
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	chr7:87075903..87078103-chr7:87080060..87082449,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1014283	chr7:87076587-87076588	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs73705209	chr7:87076588-87076589	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs368813466	chr7:87076595-87076596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1558374	chr7:87076646-87076647	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184198593	chr7:87076695-87076696	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139410949	chr7:87076726-87076727	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145618603	chr7:87076727-87076728	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190742610	chr7:87076738-87076739	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147249451	chr7:87076745-87076746	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140683225	chr7:87076770-87076771	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1149221	chr7:87076831-87076832	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530062326	chr7:87076888-87076889	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571017656	chr7:87076915-87076916	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201111902	chr7:87076919-87076920	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553627199	chr7:87076933-87076934	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571888970	chr7:87076943-87076944	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181876402	chr7:87076970-87076971	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184696016	chr7:87077041-87077042	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113572653	chr7:87077053-87077054	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575336022	chr7:87077070-87077071	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548492701	chr7:87077103-87077104	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374795881	chr7:87077145-87077146	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189065740	chr7:87077217-87077218	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554711144	chr7:87077219-87077220	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535383509	chr7:87077252-87077253	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181447517	chr7:87077418-87077419	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562098508	chr7:87077435-87077436	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79321744	chr7:87077484-87077485	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs45440392	chr7:87077549-87077550	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs565173715	chr7:87077554-87077555	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532336996	chr7:87077555-87077556	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545363168	chr7:87077569-87077570	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563505377	chr7:87077576-87077577	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs45505798	chr7:87077580-87077581	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs549019947	chr7:87077597-87077598	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369892937	chr7:87077598-87077599	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73196479	chr7:87077606-87077607	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs138555488	chr7:87077607-87077608	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73705210	chr7:87077706-87077707	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs367654853	chr7:87077721-87077722	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546914325	chr7:87077729-87077730	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571890526	chr7:87077769-87077770	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538936987	chr7:87077794-87077795	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144595655	chr7:87077823-87077824	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs568833703	chr7:87077855-87077856	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs536254056	chr7:87077951-87077952	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs180998484	chr7:87077964-87077965	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs78253146	chr7:87077979-87077980	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs4148822	chr7:87077996-87077997	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	16616336	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86980000-87085600	Weak transcription	Right Ventricle	heart
2	chr7:87019800-87079400	Strong transcription	Liver	Liver
3	chr7:87024800-87093200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:87040800-87085600	Weak transcription	Psoas Muscle	Psoas
5	chr7:87047000-87078000	Strong transcription	Primary B cells from cord blood	blood
6	chr7:87051200-87085600	Weak transcription	Fetal Heart	heart
7	chr7:87064600-87077800	Weak transcription	Spleen	Spleen
8	chr7:87065000-87077800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:87066800-87085600	Weak transcription	Left Ventricle	heart
10	chr7:87072800-87077800	Weak transcription	Aorta	Aorta
11	chr7:87072800-87079000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:87072800-87079200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:87073200-87087000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:87074600-87079000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:87075600-87081800	Weak transcription	GM12878-XiMat	blood
16	chr7:87075600-87094800	Strong transcription	Primary B cells from peripheral blood	blood
17	chr7:87076400-87081600	Strong transcription	HepG2	liver
18	chr7:87076600-87077000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr7:87076800-87077200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:87077000-87078400	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr7:87077600-87078000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:87077600-87078000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:87077600-87078000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr7:87077800-87078000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:87077800-87078000	ZNF genes & repeats	Aorta	Aorta
26	chr7:87077800-87078000	Enhancers	Spleen	Spleen
27	chr7:87077800-87078200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:87077800-87078200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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