Variant report

Variant	nsv970427
Chromosome Location	chr7:139563088-139566029
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139555204..139557989-chr7:139563811..139565312,2	K562	blood:
2	chr7:139563901..139566062-chr7:139568155..139570691,2	K562	blood:
3	chr7:139566001..139568670-chr7:139571558..139574331,3	K562	blood:
4	chr7:139558571..139560374-chr7:139562107..139563967,2	MCF-7	breast:
5	chr7:139563211..139565717-chr7:139566478..139568131,2	K562	blood:
6	chr7:139560610..139563132-chr7:139613591..139615193,2	K562	blood:

Extended variants
information (count: 110 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78703714	chr7:139563100-139563101	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs78625438	chr7:139563130-139563131	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs62490072	chr7:139563198-139563199	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs542754007	chr7:139563239-139563240	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189297028	chr7:139563253-139563254	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181905316	chr7:139563254-139563255	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184892911	chr7:139563262-139563263	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540781999	chr7:139563268-139563269	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553450706	chr7:139563281-139563282	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374062622	chr7:139563282-139563283	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189804964	chr7:139563283-139563284	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181156913	chr7:139563332-139563333	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544904980	chr7:139563335-139563336	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145561178	chr7:139563336-139563337	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186422425	chr7:139563374-139563375	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563635452	chr7:139563391-139563392	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549099255	chr7:139563428-139563429	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs112234441	chr7:139563440-139563441	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs371336393	chr7:139563457-139563458	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs531107138	chr7:139563460-139563461	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs546748354	chr7:139563507-139563508	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs183627091	chr7:139563550-139563551	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs148889619	chr7:139563586-139563587	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs556829267	chr7:139563592-139563593	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs115085164	chr7:139563610-139563611	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs143579455	chr7:139563632-139563633	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs147644085	chr7:139563645-139563646	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs554654233	chr7:139563663-139563664	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs142324849	chr7:139563672-139563673	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs76970371	chr7:139563746-139563747	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs111516225	chr7:139563780-139563781	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs577356834	chr7:139563818-139563819	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs187542031	chr7:139563926-139563927	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs146411858	chr7:139563943-139563944	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs563126199	chr7:139563972-139563973	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs530527011	chr7:139563981-139563982	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs542608499	chr7:139564007-139564008	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs560843737	chr7:139564033-139564034	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs113911176	chr7:139564036-139564037	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs546364879	chr7:139564043-139564044	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs571463807	chr7:139564046-139564047	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs117512128	chr7:139564052-139564053	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs78154434	chr7:139564057-139564058	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs550464991	chr7:139564068-139564069	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs118186798	chr7:139564072-139564073	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs536264617	chr7:139564076-139564077	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs554974173	chr7:139564092-139564093	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs114990498	chr7:139564097-139564098	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs376564980	chr7:139564115-139564116	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs73734122	chr7:139564186-139564187	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:99)

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	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	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
Low-grade astrocytoma	19016743	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139531400-139572600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:139553800-139570400	Weak transcription	Right Atrium	heart
3	chr7:139555600-139569800	Weak transcription	Lung	lung
4	chr7:139555600-139571800	Weak transcription	Thymus	Thymus
5	chr7:139560600-139572000	Weak transcription	Fetal Thymus	thymus
6	chr7:139560800-139563200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:139561800-139563600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:139562400-139563200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:139563000-139563200	Active TSS	Aorta	Aorta
10	chr7:139563000-139563200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr7:139563000-139563800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr7:139563000-139568800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr7:139563200-139563400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr7:139563200-139564400	Weak transcription	Aorta	Aorta
15	chr7:139563200-139565400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr7:139563200-139566400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:139563400-139565400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
18	chr7:139563600-139565000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr7:139563800-139564400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr7:139564400-139565000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
21	chr7:139564400-139565200	ZNF genes & repeats	Aorta	Aorta
22	chr7:139564600-139565200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:139564800-139565200	Enhancers	Stomach Mucosa	stomach
24	chr7:139565000-139568400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr7:139565000-139569600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:139565200-139565400	Weak transcription	Stomach Mucosa	stomach
27	chr7:139565200-139570400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:139565200-139570600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:139565200-139571400	Weak transcription	Aorta	Aorta
30	chr7:139565400-139566600	Weak transcription	Monocytes-CD14+_RO01746	blood

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