Variant report

Variant	nsv531439
Chromosome Location	chr7:146349600-146467532
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	chr7:146371392..146373633-chr7:146379567..146381650,2	MCF-7	breast:
2	chr7:146433750..146434499-chr7:147781098..147781819,2	MCF-7	breast:
3	chr7:146465957..146468048-chr7:146468672..146471163,2	K562	blood:
4	chr7:146433613..146434480-chr7:146942002..146942841,3	MCF-7	breast:
5	chr7:144849072..144851097-chr7:146354909..146357646,2	K562	blood:
6	chr7:146392626..146394325-chr7:146397698..146400118,2	K562	blood:
7	chr7:146371392..146373633-chr7:146379567..146381650,2	MCF-7	breast:
8	chr7:146392626..146394325-chr7:146397698..146400118,2	K562	blood:

No data

Extended variants
information (count: 2083 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:2083 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1494455	chr7:146349644-146349645	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536501923	chr7:146349645-146349646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553003389	chr7:146349683-146349684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572895706	chr7:146349724-146349725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545050756	chr7:146349732-146349733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565016464	chr7:146349761-146349762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77943326	chr7:146349768-146349769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368397397	chr7:146349786-146349787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561506948	chr7:146349789-146349790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374073793	chr7:146349806-146349807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534641588	chr7:146349839-146349840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530240018	chr7:146349891-146349892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547262174	chr7:146349924-146349925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150314102	chr7:146349926-146349927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528068274	chr7:146349956-146349957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552790732	chr7:146349962-146349963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571276576	chr7:146350073-146350074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560919012	chr7:146350128-146350129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537113887	chr7:146350158-146350159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550408426	chr7:146350178-146350179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567415933	chr7:146350205-146350206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536100312	chr7:146350216-146350217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559554875	chr7:146350258-146350259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572830261	chr7:146350283-146350284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76751883	chr7:146350284-146350285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117652508	chr7:146350349-146350350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558489366	chr7:146350371-146350372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111426023	chr7:146350418-146350419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575259588	chr7:146350422-146350423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188553025	chr7:146350428-146350429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561263546	chr7:146350440-146350441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529934654	chr7:146350441-146350442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375576998	chr7:146350468-146350469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202081617	chr7:146350470-146350471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574970684	chr7:146350481-146350482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557481062	chr7:146350485-146350486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192939217	chr7:146350499-146350500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575930918	chr7:146350504-146350505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532819281	chr7:146350527-146350528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184837879	chr7:146350537-146350538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552925729	chr7:146350561-146350562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547916821	chr7:146350564-146350565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530434947	chr7:146350568-146350569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs344488	chr7:146350629-146350630	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs567297186	chr7:146350661-146350662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529877191	chr7:146350667-146350668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187284327	chr7:146350674-146350675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564801729	chr7:146350681-146350682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566347516	chr7:146350727-146350728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144898684	chr7:146350738-146350739	Enhancers 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
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146345200-146353200	Weak transcription	Fetal Thymus	thymus
2	chr7:146348200-146352800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:146348400-146355000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:146348600-146355000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr7:146348800-146350400	Enhancers	Primary hematopoietic stem cells	blood
6	chr7:146350000-146351400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:146350400-146351400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:146350800-146351600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:146350800-146351600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:146351000-146351200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:146351200-146351400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:146351400-146352200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:146351400-146352600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:146351400-146354600	Enhancers	Primary hematopoietic stem cells	blood
15	chr7:146351600-146353600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:146352200-146352400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:146352400-146353600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:146352600-146353400	Enhancers	Fetal Kidney	kidney
19	chr7:146352600-146354000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:146352800-146353800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:146353000-146353400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:146353000-146353400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:146353000-146353400	Enhancers	Fetal Brain Male	brain
24	chr7:146353000-146353400	Enhancers	Fetal Lung	lung
25	chr7:146353000-146353800	Enhancers	Fetal Brain Female	brain
26	chr7:146353200-146353800	Enhancers	Fetal Thymus	thymus
27	chr7:146353200-146354000	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr7:146353400-146357800	Weak transcription	Fetal Lung	lung
29	chr7:146353400-146358000	Weak transcription	Fetal Brain Male	brain
30	chr7:146353600-146353800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:146353600-146354000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr7:146353800-146354800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:146353800-146355000	Weak transcription	Fetal Thymus	thymus
34	chr7:146353800-146358000	Weak transcription	Fetal Brain Female	brain
35	chr7:146354600-146356000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:146354800-146355800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:146355000-146355400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:146355000-146358400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr7:146355200-146355400	Enhancers	Fetal Thymus	thymus
40	chr7:146355400-146356600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:146355800-146358000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:146356000-146356200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:146356000-146356400	Enhancers	Primary hematopoietic stem cells	blood
44	chr7:146356400-146358200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr7:146356600-146357800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:146357800-146358200	Enhancers	Fetal Heart	heart
47	chr7:146357800-146358600	Enhancers	Fetal Lung	lung
48	chr7:146357800-146359400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:146358000-146358200	Enhancers	Fetal Brain Female	brain
50	chr7:146358000-146358600	Enhancers	Fetal Brain Male	brain

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