Variant report

Variant	nsv606676
Chromosome Location	chr7:39542834-39551600
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	chr7:39538609..39540979-chr7:39546036..39547767,2	K562	blood:
2	chr7:39538705..39540633-chr7:39541459..39543564,2	K562	blood:

Extended variants
information (count: 367 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17171587	chr7:39542834-39542835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552451183	chr7:39542884-39542885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377690071	chr7:39542885-39542886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146205045	chr7:39542918-39542919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs59860686	chr7:39542943-39542944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs530119422	chr7:39542983-39542984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs137944612	chr7:39543036-39543037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs57741448	chr7:39543040-39543041	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs2329400	chr7:39543044-39543045	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs142335748	chr7:39543085-39543086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568089568	chr7:39543139-39543140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199960122	chr7:39543147-39543148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548727340	chr7:39543152-39543153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182182511	chr7:39543153-39543154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372224115	chr7:39543195-39543196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541517618	chr7:39543255-39543256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141891641	chr7:39543289-39543290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10254109	chr7:39543309-39543310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs386712401	chr7:39543321-39543322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557931421	chr7:39543328-39543329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187681628	chr7:39543342-39543343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372812425	chr7:39543358-39543359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543187270	chr7:39543366-39543367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10225083	chr7:39543370-39543371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150652280	chr7:39543374-39543375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201623923	chr7:39543381-39543382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28654543	chr7:39543382-39543383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112980204	chr7:39543386-39543387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112265775	chr7:39543387-39543388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28702831	chr7:39543388-39543389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28445666	chr7:39543398-39543399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185416987	chr7:39543427-39543428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190665093	chr7:39543431-39543432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371067550	chr7:39543439-39543440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10254277	chr7:39543443-39543444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28393542	chr7:39543447-39543448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200692488	chr7:39543451-39543452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199834759	chr7:39543455-39543456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12535833	chr7:39543459-39543460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77844315	chr7:39543463-39543464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs70977478	chr7:39543479-39543480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371869406	chr7:39543482-39543483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139616352	chr7:39543491-39543492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10225303	chr7:39543495-39543496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10225304	chr7:39543499-39543500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs113270705	chr7:39543507-39543508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73372737	chr7:39543527-39543528	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs542506255	chr7:39543565-39543566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148447579	chr7:39543596-39543597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528025462	chr7:39543608-39543609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39541400-39544200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:39541400-39544400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:39544200-39546200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:39544400-39545000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:39544400-39545200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:39544400-39545200	Enhancers	Dnd41	blood
7	chr7:39544400-39551400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:39544600-39545000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:39544600-39545000	Bivalent Enhancer	NHDF-Ad	bronchial
10	chr7:39544800-39545000	Enhancers	K562	blood
11	chr7:39545000-39548800	Weak transcription	K562	blood
12	chr7:39545000-39549200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:39545200-39545600	Weak transcription	Dnd41	blood
14	chr7:39545600-39545800	Enhancers	Dnd41	blood
15	chr7:39545800-39546000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr7:39545800-39547400	Weak transcription	Dnd41	blood
17	chr7:39546000-39547000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr7:39546200-39546600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:39546600-39547800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:39547000-39549800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr7:39547000-39550000	Enhancers	Primary hematopoietic stem cells	blood
22	chr7:39547400-39548600	Enhancers	Dnd41	blood
23	chr7:39547600-39547800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:39547600-39548000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:39547600-39548200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr7:39547600-39548200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:39547600-39548200	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr7:39547600-39548400	Enhancers	Primary B cells from peripheral blood	blood
29	chr7:39547800-39548000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr7:39547800-39548200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:39547800-39549800	Enhancers	Fetal Thymus	thymus
32	chr7:39548000-39548200	Enhancers	Thymus	Thymus
33	chr7:39548200-39548800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:39548200-39549200	Weak transcription	Thymus	Thymus
35	chr7:39548600-39548800	Flanking Active TSS	Dnd41	blood
36	chr7:39548800-39549200	Enhancers	Dnd41	blood
37	chr7:39548800-39549800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:39548800-39549800	Enhancers	K562	blood
39	chr7:39549000-39549400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr7:39549000-39551000	Enhancers	NHEK	skin
41	chr7:39549000-39551200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:39549200-39549600	Flanking Active TSS	Dnd41	blood
43	chr7:39549200-39549800	Enhancers	Thymus	Thymus
44	chr7:39549200-39550000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:39549200-39550000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:39549200-39551400	Enhancers	HMEC	breast
47	chr7:39549400-39550000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:39549600-39551000	Enhancers	Dnd41	blood
49	chr7:39549800-39550400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:39549800-39551800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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