Variant report

Variant	nsv824315
Chromosome Location	chr7:137429682-137430972
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	chr7:137429891..137431516-chr7:137441262..137442880,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374054235	chr7:137429691-137429692	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs117687365	chr7:137429724-137429725	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs191945383	chr7:137429756-137429757	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs140339121	chr7:137429870-137429871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530694244	chr7:137429877-137429878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368193325	chr7:137429911-137429912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550782720	chr7:137429940-137429941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1547997	chr7:137429955-137429956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17169427	chr7:137429960-137429961	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs539718693	chr7:137430012-137430013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183848854	chr7:137430050-137430051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566424360	chr7:137430056-137430057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144065162	chr7:137430070-137430071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375344251	chr7:137430081-137430082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555017356	chr7:137430149-137430150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146449180	chr7:137430201-137430202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537584081	chr7:137430208-137430209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540408660	chr7:137430297-137430298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539172770	chr7:137430298-137430299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149040298	chr7:137430307-137430308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546465293	chr7:137430311-137430312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375345096	chr7:137430383-137430384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573224515	chr7:137430387-137430388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74598872	chr7:137430417-137430418	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112364680	chr7:137430488-137430489	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13235392	chr7:137430503-137430504	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs528152902	chr7:137430527-137430528	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372870537	chr7:137430560-137430561	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372077802	chr7:137430599-137430600	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187215944	chr7:137430639-137430640	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73152524	chr7:137430648-137430649	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6947142	chr7:137430705-137430706	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs555246467	chr7:137430706-137430707	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575152024	chr7:137430772-137430773	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191723888	chr7:137430815-137430816	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377483367	chr7:137430822-137430823	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Bladder cancer	21909424	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137413400-137432200	Weak transcription	Aorta	Aorta
2	chr7:137416600-137438000	Weak transcription	NH-A	brain
3	chr7:137419200-137431000	Weak transcription	Osteobl	bone
4	chr7:137419400-137438200	Weak transcription	HSMM	muscle
5	chr7:137419600-137437800	Weak transcription	HSMMtube	muscle
6	chr7:137419800-137438000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:137425600-137430800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:137429000-137429800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:137429400-137429800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
10	chr7:137429400-137431400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:137429800-137430600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:137429800-137431600	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr7:137430200-137438600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:137430400-137432000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:137430600-137432600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:137430800-137432000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr7:137430800-137432200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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