Variant report

Variant	nsv932939
Chromosome Location	chr7:146420644-146587922
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:146498401..146500562-chr7:146505202..146506866,2	K562	blood:
2	chr7:146570862..146573024-chr7:146579800..146582486,2	K562	blood:
3	chr7:146465957..146468048-chr7:146468672..146471163,2	K562	blood:
4	chr7:146479043..146481876-chr7:146483638..146485825,2	K562	blood:
5	chr7:146486735..146488259-chr7:146492496..146494438,2	K562	blood:
6	chr7:146498401..146500562-chr7:146505202..146506866,2	K562	blood:
7	chr7:146433613..146434480-chr7:146942002..146942841,3	MCF-7	breast:
8	chr7:146570862..146573024-chr7:146579800..146582486,2	K562	blood:
9	chr7:146537182..146538796-chr7:146543002..146544884,2	K562	blood:
10	chr7:146531380..146533231-chr7:146533268..146535989,2	K562	blood:
11	chr7:146486735..146488259-chr7:146492496..146494438,2	K562	blood:
12	chr7:146537182..146538796-chr7:146543002..146544884,2	K562	blood:
13	chr7:146531380..146533231-chr7:146533268..146535989,2	K562	blood:
14	chr11:86510283..86512929-chr7:146532947..146535829,2	MCF-7	breast:
15	chr7:146465957..146468048-chr7:146468672..146471163,2	K562	blood:
16	chr7:146479043..146481876-chr7:146483638..146485825,2	K562	blood:
17	chr7:146500988..146503359-chr7:146527735..146530660,2	K562	blood:
18	chr7:146500988..146503359-chr7:146527735..146530660,2	K562	blood:
19	chr7:146433750..146434499-chr7:147781098..147781819,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000150687	chromatin interactions

Extended variants
information (count: 2844 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:2844 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574474098	chr7:146420645-146420646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533967500	chr7:146420646-146420647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377653802	chr7:146420647-146420648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74461092	chr7:146420669-146420670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7806479	chr7:146420680-146420681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562897246	chr7:146420720-146420721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576736534	chr7:146420739-146420740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189108862	chr7:146420752-146420753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139369115	chr7:146420761-146420762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73168725	chr7:146420781-146420782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529697081	chr7:146420847-146420848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370451437	chr7:146420854-146420855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143290250	chr7:146420864-146420865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192793681	chr7:146420934-146420935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530643263	chr7:146420967-146420968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532069958	chr7:146420983-146420984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185538824	chr7:146420996-146420997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568932748	chr7:146421008-146421009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558946623	chr7:146421009-146421010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538075328	chr7:146421028-146421029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73168726	chr7:146421029-146421030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs189272699	chr7:146421037-146421038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533927868	chr7:146421054-146421055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73168727	chr7:146421056-146421057	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs66698087	chr7:146421057-146421058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs2642527	chr7:146421112-146421113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539511357	chr7:146421115-146421116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556639820	chr7:146421220-146421221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181944977	chr7:146421224-146421225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568352452	chr7:146421340-146421341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542475049	chr7:146421364-146421365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562358123	chr7:146421368-146421369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115822482	chr7:146421408-146421409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541756268	chr7:146421444-146421445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560155702	chr7:146421485-146421486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76964394	chr7:146421540-146421541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370020340	chr7:146421544-146421545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112309511	chr7:146421572-146421573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562640922	chr7:146421589-146421590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115282138	chr7:146421605-146421606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535798503	chr7:146421611-146421612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75417035	chr7:146421678-146421679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556941833	chr7:146421702-146421703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567389672	chr7:146421721-146421722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563386095	chr7:146421740-146421741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567915672	chr7:146421749-146421750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568984059	chr7:146421754-146421755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs344464	chr7:146421769-146421770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs568179552	chr7:146421809-146421810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75656681	chr7:146421836-146421837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146417800-146422600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr7:146422600-146423200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:146425800-146426400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:146425800-146426400	Enhancers	Fetal Heart	heart
5	chr7:146433400-146433600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:146433600-146433800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:146433800-146438600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:146437600-146438200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr7:146437600-146438200	ZNF genes & repeats	Aorta	Aorta
10	chr7:146438200-146438800	Enhancers	Fetal Brain Male	brain
11	chr7:146438600-146439000	Enhancers	Fetal Brain Female	brain
12	chr7:146438800-146439200	Weak transcription	Fetal Brain Male	brain
13	chr7:146439000-146439200	Weak transcription	Brain Germinal Matrix	brain
14	chr7:146439200-146439600	Enhancers	Fetal Brain Male	brain
15	chr7:146440200-146440600	Enhancers	Brain Germinal Matrix	brain
16	chr7:146440600-146441800	Weak transcription	Brain Germinal Matrix	brain
17	chr7:146441600-146442200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:146442000-146442200	Enhancers	Brain Germinal Matrix	brain
19	chr7:146461000-146461200	Enhancers	Fetal Brain Male	brain
20	chr7:146461000-146462200	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr7:146461400-146462600	Weak transcription	Fetal Brain Male	brain
22	chr7:146462600-146463000	Enhancers	Fetal Brain Male	brain
23	chr7:146463000-146465400	Weak transcription	Fetal Brain Male	brain
24	chr7:146465400-146465600	Enhancers	Fetal Brain Female	brain
25	chr7:146465400-146465800	Enhancers	Pancreas	Pancrea
26	chr7:146465400-146466200	Enhancers	Ovary	ovary
27	chr7:146465400-146467000	Enhancers	Fetal Brain Male	brain
28	chr7:146466200-146466400	Enhancers	Fetal Brain Female	brain
29	chr7:146469200-146469400	Enhancers	Primary hematopoietic stem cells	blood
30	chr7:146469200-146470400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:146469600-146470400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:146470000-146470200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr7:146470000-146470200	Enhancers	Primary hematopoietic stem cells	blood
34	chr7:146470200-146471200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr7:146470800-146471400	Enhancers	Fetal Heart	heart
36	chr7:146471200-146471600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr7:146478400-146479200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:146478600-146478800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:146478600-146479000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:146478600-146479400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr7:146478800-146489400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:146479000-146479200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr7:146479200-146486000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr7:146483000-146484000	Enhancers	Fetal Heart	heart
45	chr7:146484200-146484600	Active TSS	Primary T cells from cord blood	blood
46	chr7:146484400-146484800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:146485200-146485400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:146485800-146486000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:146486000-146487400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr7:146486000-146490000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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