Variant report

Variant	nsv1019592
Chromosome Location	chr7:146216403-146254660
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:146233829..146237981-chr7:146239048..146242381,3	K562	blood:
2	chr7:146218663..146220182-chr7:146222082..146223804,2	K562	blood:
3	chr16:70557427..70557946-chr7:146244932..146245452,2	Hela-S3	cervix:
4	chr7:146250194..146253829-chr7:146254649..146256608,3	K562	blood:
5	chr7:146235172..146238852-chr7:146239684..146242381,3	K562	blood:
6	chr7:146253504..146256343-chr7:146261873..146263479,2	K562	blood:
7	chr7:146250194..146253829-chr7:146254649..146256608,3	K562	blood:
8	chr7:146235172..146238852-chr7:146239684..146242381,3	K562	blood:
9	chr7:146210624..146213403-chr7:146216650..146219300,2	MCF-7	breast:
10	chr7:146233829..146237981-chr7:146239048..146242381,3	K562	blood:
11	chr7:146218663..146220182-chr7:146222082..146223804,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000189091	chromatin interactions
ENSG00000103051	chromatin interactions

Extended variants
information (count: 846 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:846 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146385649	chr7:146216411-146216412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs578245099	chr7:146216429-146216430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34417131	chr7:146216460-146216461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543810368	chr7:146216474-146216475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562497698	chr7:146216508-146216509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117591517	chr7:146216609-146216610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535219945	chr7:146216632-146216633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111381289	chr7:146216670-146216671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77615181	chr7:146216681-146216682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139367612	chr7:146216705-146216706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527415597	chr7:146216723-146216724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149604408	chr7:146216747-146216748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs801969	chr7:146216767-146216768	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533253879	chr7:146216776-146216777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549811219	chr7:146216828-146216829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376037588	chr7:146216834-146216835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569993643	chr7:146216840-146216841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557113389	chr7:146216866-146216867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564148846	chr7:146216920-146216921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535495947	chr7:146216922-146216923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549469994	chr7:146216929-146216930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566154908	chr7:146216998-146216999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529358515	chr7:146223405-146223406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539637715	chr7:146223413-146223414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73741731	chr7:146223449-146223450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551486831	chr7:146223527-146223528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73741732	chr7:146223576-146223577	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs376090968	chr7:146223590-146223591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148493905	chr7:146223594-146223595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563414807	chr7:146223633-146223634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142681207	chr7:146223664-146223665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188703999	chr7:146223673-146223674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142273432	chr7:146223676-146223677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs801950	chr7:146223694-146223695	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs150992819	chr7:146223701-146223702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555067542	chr7:146223745-146223746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549600957	chr7:146223746-146223747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs801949	chr7:146223754-146223755	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs540852284	chr7:146223763-146223764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564348613	chr7:146223786-146223787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567916846	chr7:146223844-146223845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533074620	chr7:146223878-146223879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192601707	chr7:146223890-146223891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113469149	chr7:146223898-146223899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs801948	chr7:146223919-146223920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs529321209	chr7:146223928-146223929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549468141	chr7:146223951-146223952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs801947	chr7:146223956-146223957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs183025529	chr7:146223971-146223972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367898017	chr7:146223972-146223973	Weak transcription	n/a	n/a	Overlapped CNVs	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
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
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Epilepsy	20502679	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146215800-146216600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr7:146215800-146217000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:146216000-146216600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:146216000-146216800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:146216200-146216800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:146223400-146223800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr7:146223800-146225800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:146225600-146226000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:146225600-146226800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:146225800-146226400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr7:146226800-146229400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:146229400-146229800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:146231400-146242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:146235400-146235600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:146235600-146236600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:146236200-146237800	Enhancers	Fetal Kidney	kidney
17	chr7:146236600-146237000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:146238800-146239400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:146239000-146239400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:146239200-146239400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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