Variant report

Variant	nsv1020773
Chromosome Location	chr7:152921373-152965180
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:152932848..152935225-chr7:153105144..153107809,2	K562	blood:
2	chr7:152948657..152952054-chr7:152952493..152957481,5	K562	blood:
3	chr7:152948657..152952054-chr7:152952493..152957481,5	K562	blood:
4	chr7:152877189..152880146-chr7:152921229..152923329,2	K562	blood:
5	chr7:152941999..152944406-chr7:152945770..152947982,2	K562	blood:
6	chr7:152941333..152942973-chr7:153102433..153104894,2	K562	blood:
7	chr7:152945099..152947083-chr7:152947405..152949970,2	K562	blood:
8	chr7:152947748..152949504-chr7:153104988..153107669,2	K562	blood:
9	chr7:152941999..152944406-chr7:152945770..152947982,2	K562	blood:
10	chr7:152938733..152940838-chr7:153103273..153105378,2	K562	blood:
11	chr7:152945099..152947083-chr7:152947405..152949970,2	K562	blood:
12	chr7:152964213..152967180-chr7:152968454..152970923,2	K562	blood:
13	chr7:152889841..152890846-chr7:152935444..152936722,7	MCF-7	breast:

No data

Extended variants
information (count: 919 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:919 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7786346	chr7:152921373-152921374	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78666164	chr7:152921374-152921375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531647440	chr7:152921412-152921413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533125724	chr7:152921436-152921437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182844377	chr7:152921481-152921482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572844320	chr7:152921497-152921498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577170175	chr7:152921549-152921550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372889597	chr7:152921561-152921562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541372311	chr7:152921565-152921566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555478067	chr7:152921589-152921590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573913182	chr7:152921600-152921601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559605850	chr7:152921642-152921643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544408605	chr7:152921658-152921659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562686977	chr7:152921690-152921691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139004182	chr7:152921694-152921695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551375207	chr7:152921699-152921700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530187518	chr7:152921756-152921757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2710207	chr7:152921838-152921839	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs563914976	chr7:152921876-152921877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188142641	chr7:152921884-152921885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115842183	chr7:152921931-152921932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566807045	chr7:152921937-152921938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561038093	chr7:152921947-152921948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201393251	chr7:152921962-152921963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531127240	chr7:152921963-152921964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9640320	chr7:152921979-152921980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142282084	chr7:152921994-152921995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564761365	chr7:152922009-152922010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539336870	chr7:152922028-152922029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528091306	chr7:152922033-152922034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547743372	chr7:152922039-152922040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146351943	chr7:152922049-152922050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533751679	chr7:152922077-152922078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555538792	chr7:152922092-152922093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372848481	chr7:152922110-152922111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192886346	chr7:152922113-152922114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556331360	chr7:152922129-152922130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577728880	chr7:152922132-152922133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545316042	chr7:152922149-152922150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10260947	chr7:152922173-152922174	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs2735770	chr7:152922174-152922175	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs542609096	chr7:152922231-152922232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2735771	chr7:152922237-152922238	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs6958122	chr7:152922248-152922249	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs549975111	chr7:152922318-152922319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs72252999	chr7:152922320-152922321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374910832	chr7:152922325-152922326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10276711	chr7:152922373-152922374	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs532572886	chr7:152922378-152922379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548101890	chr7:152922389-152922390	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152921000-152922400	Enhancers	Primary T cells from cord blood	blood
2	chr7:152931200-152931400	Enhancers	Placenta	Placenta
3	chr7:152931400-152932200	ZNF genes & repeats	Placenta	Placenta
4	chr7:152941400-152943400	Enhancers	Placenta	Placenta
5	chr7:152942800-152943400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr7:152943400-152943800	Weak transcription	Placenta	Placenta
7	chr7:152943800-152945200	Enhancers	Placenta	Placenta
8	chr7:152945200-152945600	Weak transcription	Placenta	Placenta
9	chr7:152945600-152945800	Enhancers	Placenta	Placenta
10	chr7:152945800-152948600	Weak transcription	Placenta	Placenta
11	chr7:152948600-152948800	Enhancers	Placenta	Placenta
12	chr7:152950200-152950400	Enhancers	Pancreas	Pancrea
13	chr7:152950400-152950600	Weak transcription	Pancreas	Pancrea
14	chr7:152952400-152954800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr7:152953200-152953600	Enhancers	Primary hematopoietic stem cells	blood
16	chr7:152955800-152956200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:152955800-152956200	Enhancers	Brain Anterior Caudate	brain
18	chr7:152955800-152956200	Enhancers	Brain Cingulate Gyrus	brain
19	chr7:152955800-152956400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr7:152955800-152956400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr7:152955800-152956400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:152955800-152956400	Enhancers	Brain Substantia Nigra	brain
23	chr7:152955800-152956600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:152956000-152956400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:152956000-152956400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr7:152956000-152956400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:152956400-152961400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:152961400-152962000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:152961600-152961800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:152961800-152964600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:152962000-152962800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:152964600-152964800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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