Variant report

Variant	nsv869227
Chromosome Location	chr7:146440190-146475758
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	chr7:146465957..146468048-chr7:146468672..146471163,2	K562	blood:
2	chr7:146465957..146468048-chr7:146468672..146471163,2	K562	blood:

Extended variants
information (count: 432 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:432 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116098144	chr7:146440243-146440244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112650764	chr7:146440253-146440254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567709090	chr7:146440257-146440258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373413635	chr7:146440267-146440268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116357307	chr7:146440273-146440274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574837130	chr7:146440297-146440298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150386891	chr7:146440339-146440340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570169676	chr7:146440345-146440346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569362502	chr7:146440376-146440377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138085294	chr7:146440377-146440378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556058056	chr7:146440385-146440386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181908874	chr7:146440417-146440418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542385484	chr7:146440449-146440450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554357909	chr7:146440459-146440460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555742554	chr7:146440486-146440487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117955089	chr7:146440527-146440528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541391479	chr7:146440558-146440559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370201065	chr7:146440562-146440563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543339920	chr7:146440581-146440582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564482686	chr7:146440597-146440598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs578009812	chr7:146440645-146440646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543922659	chr7:146440646-146440647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559237602	chr7:146440667-146440668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563714612	chr7:146440712-146440713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529532150	chr7:146440731-146440732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115637388	chr7:146440839-146440840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566698792	chr7:146440842-146440843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149516886	chr7:146440861-146440862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77568083	chr7:146440864-146440865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375399035	chr7:146440871-146440872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113996665	chr7:146440938-146440939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186977499	chr7:146440983-146440984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559353779	chr7:146440984-146440985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189403762	chr7:146440990-146440991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549885329	chr7:146441022-146441023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146517586	chr7:146441042-146441043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs68131405	chr7:146441043-146441044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371341491	chr7:146441089-146441090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375608880	chr7:146441090-146441091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535691033	chr7:146441109-146441110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144019682	chr7:146441135-146441136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572329316	chr7:146441151-146441152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181448223	chr7:146441172-146441173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs59501928	chr7:146441207-146441208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534934172	chr7:146441210-146441211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548768000	chr7:146441221-146441222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140084574	chr7:146441235-146441236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115233050	chr7:146441275-146441276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11773440	chr7:146441311-146441312	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs66553407	chr7:146441320-146441321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Glioma	20126413	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146440200-146440600	Enhancers	Brain Germinal Matrix	brain
2	chr7:146440600-146441800	Weak transcription	Brain Germinal Matrix	brain
3	chr7:146441600-146442200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:146442000-146442200	Enhancers	Brain Germinal Matrix	brain
5	chr7:146461000-146461200	Enhancers	Fetal Brain Male	brain
6	chr7:146461000-146462200	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr7:146461400-146462600	Weak transcription	Fetal Brain Male	brain
8	chr7:146462600-146463000	Enhancers	Fetal Brain Male	brain
9	chr7:146463000-146465400	Weak transcription	Fetal Brain Male	brain
10	chr7:146465400-146465600	Enhancers	Fetal Brain Female	brain
11	chr7:146465400-146465800	Enhancers	Pancreas	Pancrea
12	chr7:146465400-146466200	Enhancers	Ovary	ovary
13	chr7:146465400-146467000	Enhancers	Fetal Brain Male	brain
14	chr7:146466200-146466400	Enhancers	Fetal Brain Female	brain
15	chr7:146469200-146469400	Enhancers	Primary hematopoietic stem cells	blood
16	chr7:146469200-146470400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:146469600-146470400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:146470000-146470200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr7:146470000-146470200	Enhancers	Primary hematopoietic stem cells	blood
20	chr7:146470200-146471200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:146470800-146471400	Enhancers	Fetal Heart	heart
22	chr7:146471200-146471600	Enhancers	HUES64 Cell Line	embryonic stem cell

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