Variant report

Variant	nsv933430
Chromosome Location	chr7:146471119-146515029
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:146486735..146488259-chr7:146492496..146494438,2	K562	blood:
2	chr7:146498401..146500562-chr7:146505202..146506866,2	K562	blood:
3	chr7:146479043..146481876-chr7:146483638..146485825,2	K562	blood:
4	chr7:146486735..146488259-chr7:146492496..146494438,2	K562	blood:
5	chr7:146500988..146503359-chr7:146527735..146530660,2	K562	blood:
6	chr7:146465957..146468048-chr7:146468672..146471163,2	K562	blood:
7	chr7:146498401..146500562-chr7:146505202..146506866,2	K562	blood:
8	chr7:146479043..146481876-chr7:146483638..146485825,2	K562	blood:

No data

Extended variants
information (count: 936 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:936 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533172531	chr7:146471130-146471131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113456044	chr7:146471136-146471137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559929541	chr7:146471139-146471140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569797547	chr7:146471171-146471172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77197724	chr7:146471173-146471174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549134537	chr7:146471181-146471182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566045460	chr7:146471197-146471198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145298480	chr7:146471198-146471199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191067437	chr7:146471246-146471247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148853070	chr7:146471259-146471260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528382745	chr7:146471273-146471274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546872812	chr7:146471283-146471284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116479521	chr7:146471307-146471308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576178823	chr7:146471308-146471309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372332415	chr7:146471315-146471316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112724037	chr7:146471322-146471323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201121160	chr7:146471328-146471329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576622310	chr7:146471342-146471343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs199901768	chr7:146471343-146471344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371991891	chr7:146471372-146471373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs137924687	chr7:146471401-146471402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551931845	chr7:146471408-146471409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564218122	chr7:146471412-146471413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183378415	chr7:146471417-146471418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549740701	chr7:146471432-146471433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376929846	chr7:146471446-146471447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563461480	chr7:146471524-146471525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113167298	chr7:146471538-146471539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113752065	chr7:146471539-146471540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529311609	chr7:146471586-146471587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561826203	chr7:146471587-146471588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549173430	chr7:146471588-146471589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367658017	chr7:146478413-146478414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559144910	chr7:146478432-146478433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377524787	chr7:146478441-146478442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs71165039	chr7:146478452-146478453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575903263	chr7:146478489-146478490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143735440	chr7:146478514-146478515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561608736	chr7:146478529-146478530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs56030848	chr7:146478530-146478531	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs148108472	chr7:146478537-146478538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369734477	chr7:146478542-146478543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528136771	chr7:146478546-146478547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191198968	chr7:146478563-146478564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534016335	chr7:146478573-146478574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571157255	chr7:146478652-146478653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530611122	chr7:146478660-146478661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550635304	chr7:146478669-146478670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567524094	chr7:146478674-146478675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373605694	chr7:146478682-146478683	Enhancers	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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146470200-146471200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:146470800-146471400	Enhancers	Fetal Heart	heart
3	chr7:146471200-146471600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:146478400-146479200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:146478600-146478800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:146478600-146479000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:146478600-146479400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:146478800-146489400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:146479000-146479200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:146479200-146486000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:146483000-146484000	Enhancers	Fetal Heart	heart
12	chr7:146484200-146484600	Active TSS	Primary T cells from cord blood	blood
13	chr7:146484400-146484800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:146485200-146485400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:146485800-146486000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:146486000-146487400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr7:146486000-146490000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:146486400-146487200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:146486400-146487800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr7:146486800-146487000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:146487000-146488200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:146487200-146488400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:146487400-146487800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr7:146487400-146488400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:146487800-146488200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:146487800-146488200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:146488200-146488400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:146488200-146488600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr7:146488200-146490000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr7:146488400-146488600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr7:146488400-146489200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:146488400-146489800	Enhancers	H9 Cell Line	embryonic stem cell
33	chr7:146488400-146489800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr7:146488400-146490000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr7:146488600-146488800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr7:146488600-146488800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:146488600-146489000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr7:146488600-146489000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:146488600-146489400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr7:146488600-146489800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr7:146488600-146489800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr7:146488800-146489200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:146488800-146489200	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr7:146488800-146489600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:146488800-146489800	Enhancers	Fetal Brain Male	brain
46	chr7:146488800-146490000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:146489000-146489200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr7:146489000-146489400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:146489200-146489400	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr7:146489200-146489800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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