Variant report

Variant	nsv1022502
Chromosome Location	chr7:140547011-140576935
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:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:140557460..140561593-chr7:140571056..140573621,3	K562	blood:
2	chr7:140572911..140575551-chr7:140622620..140624458,2	MCF-7	breast:
3	chr7:140546330..140547898-chr7:140557468..140559199,2	MCF-7	breast:
4	chr7:140571783..140574857-chr7:140622852..140625165,3	K562	blood:
5	chr7:140549692..140551797-chr7:140557152..140559330,3	K562	blood:
6	chr7:140549094..140553988-chr7:140556744..140560240,4	K562	blood:
7	chr7:140566130..140568402-chr7:140568584..140570185,2	MCF-7	breast:
8	chr7:140555134..140561473-chr7:140561764..140565765,7	K562	blood:
9	chr7:140567539..140569746-chr7:140571900..140574839,2	MCF-7	breast:
10	chr7:140557460..140561593-chr7:140571056..140573621,3	K562	blood:
11	chr7:140554945..140557362-chr7:140625940..140628286,2	K562	blood:
12	chr7:140549094..140553988-chr7:140556744..140560240,4	K562	blood:
13	chr7:140546330..140547898-chr7:140557468..140559199,2	MCF-7	breast:
14	chr7:140559226..140564238-chr7:140566941..140572115,8	K562	blood:
15	chr7:140559359..140561224-chr7:140622825..140624908,2	MCF-7	breast:
16	chr7:140545764..140548574-chr7:140553287..140554833,2	K562	blood:
17	chr7:140574947..140577128-chr7:140708628..140711066,2	K562	blood:
18	chr7:140566130..140568402-chr7:140568584..140570185,2	MCF-7	breast:
19	chr7:140549692..140551797-chr7:140557152..140559330,3	K562	blood:
20	chr7:140555537..140558723-chr7:140560485..140562343,3	K562	blood:
21	chr7:140540956..140543931-chr7:140548791..140552881,3	MCF-7	breast:
22	chr7:140559226..140564238-chr7:140566941..140572115,8	K562	blood:
23	chr7:140576301..140578300-chr7:140622207..140624826,3	MCF-7	breast:
24	chr7:140555946..140559478-chr7:140574386..140576522,3	MCF-7	breast:
25	chr7:140560224..140564238-chr7:140566941..140570656,4	K562	blood:
26	chr7:140555537..140558723-chr7:140560485..140562343,3	K562	blood:
27	chr7:140559633..140561782-chr7:140587885..140590240,2	MCF-7	breast:
28	chr7:140561409..140564479-chr7:140621368..140624778,3	K562	blood:
29	chr7:140558657..140561729-chr7:140623344..140626449,3	K562	blood:
30	chr7:140567539..140569746-chr7:140571900..140574839,2	MCF-7	breast:
31	chr7:140545764..140548574-chr7:140553287..140554833,2	K562	blood:
32	chr7:140560224..140564238-chr7:140566941..140570656,4	K562	blood:
33	chr7:140555134..140561473-chr7:140561764..140565765,7	K562	blood:
34	chr7:140555946..140559478-chr7:140574386..140576522,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000090263	chromatin interactions
ENSG00000157764	chromatin interactions

Extended variants
information (count: 1079 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1079 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539016714	chr7:140547017-140547018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145083694	chr7:140547032-140547033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576224461	chr7:140547062-140547063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543638421	chr7:140547075-140547076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183318581	chr7:140547100-140547101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186324111	chr7:140547101-140547102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377043355	chr7:140547102-140547103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149101445	chr7:140547115-140547116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1267604	chr7:140547121-140547122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533362428	chr7:140547141-140547142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11979399	chr7:140547156-140547157	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs564022540	chr7:140547186-140547187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531094144	chr7:140547252-140547253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369717729	chr7:140547269-140547270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547790663	chr7:140547307-140547308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191124056	chr7:140547320-140547321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370488682	chr7:140547338-140547339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377030953	chr7:140547384-140547385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565611527	chr7:140547387-140547388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539434765	chr7:140547389-140547390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551075652	chr7:140547395-140547396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569963290	chr7:140547396-140547397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537342340	chr7:140547427-140547428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577776140	chr7:140547479-140547480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573892982	chr7:140547487-140547488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547309487	chr7:140547508-140547509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534759641	chr7:140547532-140547533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553451812	chr7:140547546-140547547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182363385	chr7:140547576-140547577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545417541	chr7:140547597-140547598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62484295	chr7:140547665-140547666	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs575938579	chr7:140547667-140547668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114696825	chr7:140547757-140547758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1267606	chr7:140547786-140547787	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs188024185	chr7:140547835-140547836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546757556	chr7:140547958-140547959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559434541	chr7:140547964-140547965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532866269	chr7:140547982-140547983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139008483	chr7:140547991-140547992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569543959	chr7:140548033-140548034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569567465	chr7:140548154-140548155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572003463	chr7:140548176-140548177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549299224	chr7:140548179-140548180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528202310	chr7:140548245-140548246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115042418	chr7:140548257-140548258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534825821	chr7:140548267-140548268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370822212	chr7:140548274-140548275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35314014	chr7:140548298-140548299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530829364	chr7:140548411-140548412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375737303	chr7:140548447-140548448	Weak transcription Strong 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
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	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
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Low-grade astrocytoma	19016743	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Glioblastoma multiforme	21525872	CNVD

Chromatin state (count:514 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140475000-140580200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:140479600-140559000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr7:140493800-140551800	Weak transcription	Left Ventricle	heart
4	chr7:140494400-140555600	Weak transcription	Hela-S3	cervix
5	chr7:140498000-140548600	Weak transcription	A549	lung
6	chr7:140500400-140548800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr7:140507400-140548000	Weak transcription	Fetal Brain Female	brain
8	chr7:140508200-140557000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:140511000-140563400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:140511200-140549200	Weak transcription	Fetal Kidney	kidney
11	chr7:140516800-140553000	Weak transcription	Spleen	Spleen
12	chr7:140517400-140548400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:140518800-140550800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:140520800-140557000	Weak transcription	Brain Angular Gyrus	brain
15	chr7:140522800-140549400	Weak transcription	Lung	lung
16	chr7:140523200-140554000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:140524400-140556800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:140524400-140567800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:140524800-140549600	Weak transcription	NH-A	brain
20	chr7:140525200-140567400	Weak transcription	Right Ventricle	heart
21	chr7:140525400-140549800	Weak transcription	HUVEC	blood vessel
22	chr7:140525600-140557400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:140526000-140547200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr7:140526000-140556600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:140527600-140550400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr7:140527600-140573200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:140528600-140563400	Weak transcription	Esophagus	oesophagus
28	chr7:140529600-140558000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:140530400-140564800	Weak transcription	Aorta	Aorta
30	chr7:140530600-140557000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:140530600-140573200	Weak transcription	Gastric	stomach
32	chr7:140531000-140558400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:140532400-140551800	Weak transcription	HepG2	liver
34	chr7:140533200-140550400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:140533600-140561600	Weak transcription	Small Intestine	intestine
36	chr7:140534400-140552200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:140534600-140548000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:140534600-140550400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr7:140534600-140552000	Weak transcription	NHDF-Ad	bronchial
40	chr7:140534600-140553200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:140534600-140557000	Weak transcription	Brain Anterior Caudate	brain
42	chr7:140534600-140567600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr7:140534600-140570200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr7:140534800-140550400	Weak transcription	Placenta	Placenta
45	chr7:140537000-140547400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr7:140537400-140548200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr7:140541000-140547200	Strong transcription	Primary B cells from cord blood	blood
48	chr7:140541400-140558200	Weak transcription	Colon Smooth Muscle	Colon
49	chr7:140543000-140549200	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr7:140543000-140550200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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