Variant report

Variant	nsv1019300
Chromosome Location	chr7:146652162-146680329
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:146657758..146660161-chr7:146662601..146665251,2	K562	blood:
2	chr7:146651547..146653225-chr7:146656495..146658548,2	K562	blood:
3	chr7:146651547..146653225-chr7:146656495..146658548,2	K562	blood:
4	chr7:146657758..146660161-chr7:146662601..146665251,2	K562	blood:

Extended variants
information (count: 387 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559758494	chr7:146653026-146653027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531967546	chr7:146653079-146653080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539590314	chr7:146653085-146653086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371066926	chr7:146653093-146653094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536917480	chr7:146653094-146653095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11424340	chr7:146653184-146653185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs66784257	chr7:146653185-146653186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551884089	chr7:146653187-146653188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs28620341	chr7:146653198-146653199	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs117134747	chr7:146653291-146653292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148245425	chr7:146653311-146653312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184189913	chr7:146653325-146653326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565755983	chr7:146653359-146653360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533886944	chr7:146653381-146653382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142542991	chr7:146653393-146653394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188131350	chr7:146653394-146653395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs180933909	chr7:146653485-146653486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556567472	chr7:146653496-146653497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576625467	chr7:146653559-146653560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552358233	chr7:146653561-146653562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555731571	chr7:146653596-146653597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572591593	chr7:146653612-146653613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146689139	chr7:146653629-146653630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148349101	chr7:146653663-146653664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533420672	chr7:146653686-146653687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114814315	chr7:146653735-146653736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562106414	chr7:146653744-146653745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534812366	chr7:146653827-146653828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531307655	chr7:146653854-146653855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186352759	chr7:146653865-146653866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568199873	chr7:146653895-146653896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527462556	chr7:146653926-146653927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547741790	chr7:146653927-146653928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192059717	chr7:146653935-146653936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539709429	chr7:146653944-146653945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181780938	chr7:146653948-146653949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570031519	chr7:146653990-146653991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138388369	chr7:146654025-146654026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555816497	chr7:146654034-146654035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572583074	chr7:146654054-146654055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78076514	chr7:146654071-146654072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557898503	chr7:146654087-146654088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186953178	chr7:146654095-146654096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371153289	chr7:146654108-146654109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs13224666	chr7:146654138-146654139	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs573742661	chr7:146654144-146654145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531323667	chr7:146654178-146654179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541591712	chr7:146654217-146654218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191861179	chr7:146654225-146654226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527368240	chr7:146654246-146654247	Weak transcription 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
Acute lymphoblastic leukemia	21339820	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146653000-146654600	Enhancers	Fetal Lung	lung
2	chr7:146653200-146654000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:146653400-146653800	Enhancers	Ovary	ovary
4	chr7:146653400-146654000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr7:146653400-146654000	Enhancers	Fetal Brain Female	brain
6	chr7:146653400-146654400	Enhancers	Fetal Heart	heart
7	chr7:146653800-146654600	Enhancers	Brain Germinal Matrix	brain
8	chr7:146654000-146658600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:146654400-146657800	Weak transcription	Fetal Heart	heart
10	chr7:146657000-146657200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:146657200-146658200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:146657400-146658400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:146657600-146659000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:146657600-146659000	Enhancers	Brain Cingulate Gyrus	brain
15	chr7:146657800-146658200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:146657800-146658400	Enhancers	Fetal Heart	heart
17	chr7:146658000-146658200	Enhancers	NH-A	brain
18	chr7:146658000-146658800	Enhancers	Brain Hippocampus Middle	brain
19	chr7:146658000-146659000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:146658000-146659000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:146658000-146659200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr7:146658200-146658400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:146658200-146658400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:146658200-146659000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:146658200-146659200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr7:146658200-146659200	Flanking Active TSS	NH-A	brain
27	chr7:146658400-146658800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:146658400-146658800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:146658400-146659200	Flanking Active TSS	Fetal Heart	heart
30	chr7:146658400-146659600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:146658400-146659600	Enhancers	Osteobl	bone
32	chr7:146658600-146659000	Enhancers	Fetal Muscle Leg	muscle
33	chr7:146658600-146659400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:146658800-146659000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:146658800-146659600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:146659000-146659200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:146659200-146659600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:146659200-146659600	Enhancers	Fetal Heart	heart
39	chr7:146659200-146659600	Enhancers	NH-A	brain
40	chr7:146659200-146660000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:146659600-146660800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:146660000-146660200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr7:146661000-146661200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:146679600-146680000	Enhancers	Brain Germinal Matrix	brain
45	chr7:146680000-146680400	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr7:146680000-146680800	Weak transcription	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links