Variant report

Variant	nsv539171
Chromosome Location	chr7:145691540-145777997
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:41)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:145733955..145735465-chr7:145739918..145741433,2	K562	blood:
2	chr7:145715314..145718621-chr7:145718754..145721889,3	K562	blood:
3	chr7:145704641..145707485-chr7:145707900..145710506,2	K562	blood:
4	chr7:145691152..145693851-chr7:145700419..145703123,2	K562	blood:
5	chr7:145709801..145711953-chr7:145718759..145720900,2	K562	blood:
6	chr7:145693446..145695856-chr7:145705246..145708235,3	K562	blood:
7	chr7:145688129..145689794-chr7:145691841..145693343,2	K562	blood:
8	chr7:145680328..145682466-chr7:145758892..145760742,2	K562	blood:
9	chr7:145706930..145710318-chr7:145716575..145718700,3	K562	blood:
10	chr7:145706930..145710318-chr7:145716575..145718700,3	K562	blood:
11	chr7:145728196..145729845-chr7:145732878..145734449,2	K562	blood:
12	chr7:145757899..145760042-chr7:145772123..145774268,2	K562	blood:
13	chr7:145774442..145776114-chr7:145776448..145779399,2	K562	blood:
14	chr7:145697305..145699991-chr7:145700087..145702652,2	K562	blood:
15	chr7:145757899..145760042-chr7:145772123..145774268,2	K562	blood:
16	chr7:145716150..145718502-chr7:145724762..145727451,3	K562	blood:
17	chr7:145697305..145699991-chr7:145700087..145702652,2	K562	blood:
18	chr7:145733955..145735465-chr7:145739918..145741433,2	K562	blood:
19	chr7:145728196..145729845-chr7:145732878..145734449,2	K562	blood:
20	chr7:145696018..145698429-chr7:145703495..145706180,2	K562	blood:
21	chr7:145716150..145718866-chr7:145724746..145727382,4	K562	blood:
22	chr7:145691152..145693851-chr7:145700419..145703123,2	K562	blood:
23	chr7:145709801..145711953-chr7:145718759..145720900,2	K562	blood:
24	chr7:145693446..145695856-chr7:145705246..145708235,3	K562	blood:
25	chr7:145765986..145768873-chr7:145770171..145772250,2	K562	blood:
26	chr7:145716150..145718866-chr7:145724746..145727382,4	K562	blood:
27	chr7:145774442..145776114-chr7:145776448..145779399,2	K562	blood:
28	chr7:145696018..145698429-chr7:145703495..145706180,2	K562	blood:
29	chr7:145771822..145774419-chr7:145775630..145778255,2	K562	blood:
30	chr7:145715314..145718621-chr7:145718754..145721889,3	K562	blood:
31	chr7:145704641..145707485-chr7:145707900..145710506,2	K562	blood:
32	chr7:145721579..145724410-chr7:145727561..145729692,3	K562	blood:
33	chr7:145684833..145687404-chr7:145706239..145708972,2	K562	blood:
34	chr7:145749911..145752197-chr7:145756067..145758121,2	K562	blood:
35	chr7:145721579..145724410-chr7:145727561..145729692,3	K562	blood:
36	chr7:145765986..145768873-chr7:145770171..145772250,2	K562	blood:
37	chr7:145771822..145774419-chr7:145775630..145778255,2	K562	blood:
38	chr7:145747031..145750592-chr7:145750800..145754125,3	K562	blood:
39	chr7:145747031..145750592-chr7:145750800..145754125,3	K562	blood:
40	chr7:145716150..145718502-chr7:145724762..145727451,3	K562	blood:
41	chr7:145749911..145752197-chr7:145756067..145758121,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNTNAP2-3	chr7:145777121-145777289	NONHSAT123945
2	lnc-CNTNAP2-3	chr7:145747717-145747809	NONHSAT123945
3	lnc-CNTNAP2-4	chr7:145747160-145747457	NONHSAT123944

No data

Extended variants
information (count: 1007 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1007 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17169904	chr7:145691555-145691556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77082427	chr7:145691620-145691621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527785733	chr7:145691626-145691627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35513273	chr7:145691653-145691654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552495183	chr7:145691666-145691667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570797056	chr7:145691674-145691675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538078609	chr7:145691679-145691680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367988827	chr7:145691774-145691775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372157727	chr7:145691775-145691776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145140041	chr7:145691822-145691823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568477857	chr7:145691843-145691844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575297377	chr7:145691857-145691858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535902762	chr7:145691878-145691879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553883511	chr7:145691888-145691889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370222323	chr7:145691903-145691904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563022627	chr7:145691925-145691926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187741561	chr7:145691935-145691936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546209106	chr7:145691949-145691950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558117320	chr7:145691964-145691965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs202048434	chr7:145691965-145691966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200963840	chr7:145691970-145691971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576381563	chr7:145691975-145691976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543272305	chr7:145691978-145691979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146504227	chr7:145691979-145691980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561884770	chr7:145691981-145691982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10246816	chr7:145691984-145691985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201121293	chr7:145691986-145691987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10246818	chr7:145691987-145691988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559016662	chr7:145691988-145691989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375439035	chr7:145691990-145691991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28520219	chr7:145691993-145691994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533223234	chr7:145691995-145691996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28690512	chr7:145691996-145691997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546446708	chr7:145691998-145691999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143846216	chr7:145692001-145692002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4726777	chr7:145692004-145692005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535680154	chr7:145692009-145692010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557269614	chr7:145692013-145692014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs193231595	chr7:145692016-145692017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569220648	chr7:145692019-145692020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568592902	chr7:145692022-145692023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535667709	chr7:145692025-145692026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369761808	chr7:145692027-145692028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554346739	chr7:145692028-145692029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539430891	chr7:145692039-145692040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368563466	chr7:145692054-145692055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566162714	chr7:145692057-145692058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71175626	chr7:145692059-145692060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7801400	chr7:145692060-145692061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373215457	chr7:145692066-145692067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Schizophrenia	23813976	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164919	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145687000-145694000	Weak transcription	K562	blood
2	chr7:145698800-145700600	Enhancers	Primary hematopoietic stem cells	blood
3	chr7:145699400-145700000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:145699400-145700000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:145699400-145700400	Enhancers	Primary B cells from peripheral blood	blood
6	chr7:145699400-145700400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:145699800-145700400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr7:145700000-145700200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:145700000-145700400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:145700200-145700400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:145704800-145705200	Enhancers	Fetal Lung	lung
12	chr7:145705000-145705200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:145705000-145705200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr7:145705200-145706200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:145706400-145706600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:145715200-145715400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:145716200-145716800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr7:145716200-145716800	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr7:145716200-145717000	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr7:145716400-145716800	Active TSS	H9 Cell Line	embryonic stem cell
21	chr7:145716400-145716800	Active TSS	K562	blood
22	chr7:145716800-145717000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr7:145716800-145717000	Flanking Active TSS	K562	blood
24	chr7:145717000-145717200	Active TSS	K562	blood
25	chr7:145717200-145717600	Enhancers	K562	blood
26	chr7:145717600-145722000	Weak transcription	K562	blood
27	chr7:145718600-145719800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:145718800-145719400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr7:145718800-145719600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr7:145718800-145719600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr7:145719000-145720200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr7:145719200-145719600	Enhancers	H1 Cell Line	embryonic stem cell
33	chr7:145749600-145751600	Enhancers	K562	blood
34	chr7:145751600-145754400	Weak transcription	K562	blood
35	chr7:145754400-145755800	Enhancers	K562	blood
36	chr7:145755400-145756400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:145759400-145760400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:145770200-145770400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:145770400-145771200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:145771200-145771800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links