Variant report

Variant	nsv1026821
Chromosome Location	chr7:120020317-120190437
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:49)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:120183666..120186055-chr7:120187488..120190847,3	K562	blood:
2	chr7:120180481..120182755-chr7:120186215..120188744,2	K562	blood:
3	chr7:120074103..120076279-chr7:120077264..120079117,2	K562	blood:
4	chr7:120040994..120042804-chr7:120051408..120054371,2	K562	blood:
5	chr7:120109721..120112397-chr7:120114908..120116475,2	K562	blood:
6	chr7:120031308..120032856-chr7:120160102..120161912,2	K562	blood:
7	chr7:120057414..120060150-chr7:120060471..120063689,3	K562	blood:
8	chr7:120154322..120156869-chr7:120164089..120165896,2	K562	blood:
9	chr7:120040994..120042804-chr7:120051408..120054371,2	K562	blood:
10	chr7:120031308..120032856-chr7:120160102..120161912,2	K562	blood:
11	chr7:120169390..120172327-chr7:120172901..120174536,2	MCF-7	breast:
12	chr7:120014784..120016778-chr7:120018789..120020521,2	K562	blood:
13	chr7:120115063..120116822-chr7:120117642..120119650,2	K562	blood:
14	chr7:115602811..115604728-chr7:120073823..120075481,2	K562	blood:
15	chr7:120017341..120019640-chr7:120028959..120030500,2	K562	blood:
16	chr7:120127187..120129760-chr7:120143194..120145988,2	K562	blood:
17	chr7:120115577..120117354-chr7:120124597..120127119,2	MCF-7	breast:
18	chr7:120183666..120186055-chr7:120187488..120190847,3	K562	blood:
19	chr7:120134846..120137159-chr7:120137881..120139817,2	K562	blood:
20	chr7:120102029..120102882-chr7:120365430..120366363,2	K562	blood:
21	chr7:120134846..120137159-chr7:120137881..120139817,2	K562	blood:
22	chr7:120020344..120022950-chr7:120023648..120028182,4	K562	blood:
23	chr7:120182960..120185753-chr7:120186479..120188988,2	K562	blood:
24	chr7:120020344..120022950-chr7:120023648..120028182,4	K562	blood:
25	chr7:120173889..120175892-chr7:120179187..120180954,2	K562	blood:
26	chr7:120188005..120190003-chr7:120191497..120193779,2	K562	blood:
27	chr7:120034992..120037727-chr7:120044478..120046631,2	K562	blood:
28	chr7:119740645..119741482-chr7:120036035..120036887,2	K562	blood:
29	chr7:120144217..120146457-chr7:120151429..120153317,2	K562	blood:
30	chr7:120169390..120172327-chr7:120172901..120174536,2	MCF-7	breast:
31	chr7:120144217..120146457-chr7:120151429..120153317,2	K562	blood:
32	chr7:120180481..120182755-chr7:120186215..120188744,2	K562	blood:
33	chr7:120034992..120037727-chr7:120044478..120046631,2	K562	blood:
34	chr7:120074103..120076279-chr7:120077264..120079117,2	K562	blood:
35	chr7:120115063..120116822-chr7:120117642..120119650,2	K562	blood:
36	chr2:154750769..154751442-chr7:120117250..120118079,2	MCF-7	breast:
37	chr7:120185278..120187697-chr7:120193746..120195499,2	K562	blood:
38	chr7:120182960..120185753-chr7:120186479..120188988,2	K562	blood:
39	chr7:120080252..120082102-chr7:120084168..120086812,2	K562	blood:
40	chr7:120076190..120079219-chr7:120081978..120085148,3	K562	blood:
41	chr7:120115577..120117354-chr7:120124597..120127119,2	MCF-7	breast:
42	chr7:120127187..120129760-chr7:120143194..120145988,2	K562	blood:
43	chr7:120109721..120112397-chr7:120114908..120116475,2	K562	blood:
44	chr7:120154322..120156869-chr7:120164089..120165896,2	K562	blood:
45	chr7:120057414..120060150-chr7:120060471..120063689,3	K562	blood:
46	chr7:120173889..120175892-chr7:120179187..120180954,2	K562	blood:
47	chr7:120080252..120082102-chr7:120084168..120086812,2	K562	blood:
48	chr12:86629307..86629807-chr7:120030191..120030808,2	MCF-7	breast:
49	chr7:120076190..120079219-chr7:120081978..120085148,3	K562	blood:

No data

Extended variants
information (count: 5526 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:5526 , 50 per page) page: 1 2 3 4 5 6 7 ... 111

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189276706	chr7:120020395-120020396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73722585	chr7:120020440-120020441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs555795422	chr7:120020456-120020457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576081883	chr7:120020459-120020460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2024234	chr7:120020463-120020464	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs560906725	chr7:120020528-120020529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112851515	chr7:120020594-120020595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73431995	chr7:120020723-120020724	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs140738480	chr7:120020740-120020741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534397713	chr7:120020757-120020758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578041892	chr7:120020787-120020788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35472903	chr7:120020788-120020789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs202130173	chr7:120020794-120020795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543839619	chr7:120020797-120020798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185940241	chr7:120020798-120020799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543138998	chr7:120020807-120020808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561707226	chr7:120020822-120020823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527525906	chr7:120020870-120020871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149663305	chr7:120020951-120020952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs207468512	chr7:120020964-120020965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570419552	chr7:120020968-120020969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532740884	chr7:120021106-120021107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549385018	chr7:120021173-120021174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147802708	chr7:120021213-120021214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200891617	chr7:120021223-120021224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113411605	chr7:120021241-120021242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566133481	chr7:120021265-120021266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535242660	chr7:120021266-120021267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375230020	chr7:120021308-120021309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558446566	chr7:120021344-120021345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181193575	chr7:120021378-120021379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578255202	chr7:120021400-120021401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186517242	chr7:120021413-120021414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557375916	chr7:120021442-120021443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574005008	chr7:120021455-120021456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190152938	chr7:120021483-120021484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559836282	chr7:120021484-120021485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567767689	chr7:120021607-120021608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146985362	chr7:120021665-120021666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147625312	chr7:120021692-120021693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564006551	chr7:120021747-120021748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533044920	chr7:120021822-120021823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374306163	chr7:120021946-120021947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549695693	chr7:120021949-120021950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569548208	chr7:120021980-120021981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528924183	chr7:120021988-120021989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73722586	chr7:120021992-120021993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs565771896	chr7:120022001-120022002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535200588	chr7:120022002-120022003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558398655	chr7:120022005-120022006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Autism	22495311	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
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	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
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Basal cell lymphoma	21115979	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:462 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120011800-120024400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:120024400-120024800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:120024800-120028800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:120034000-120034600	ZNF genes & repeats	GM12878-XiMat	blood
5	chr7:120034600-120035000	Flanking Active TSS	GM12878-XiMat	blood
6	chr7:120035000-120035400	Enhancers	GM12878-XiMat	blood
7	chr7:120035400-120035800	Flanking Active TSS	GM12878-XiMat	blood
8	chr7:120035600-120035800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:120035800-120036400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr7:120035800-120038000	Active TSS	GM12878-XiMat	blood
11	chr7:120036400-120041800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:120038000-120038400	Weak transcription	GM12878-XiMat	blood
13	chr7:120038400-120039000	ZNF genes & repeats	GM12878-XiMat	blood
14	chr7:120038600-120038800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:120038800-120039000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:120039000-120039800	Active TSS	GM12878-XiMat	blood
17	chr7:120039000-120041000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:120039800-120042400	Flanking Active TSS	GM12878-XiMat	blood
19	chr7:120041000-120041400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr7:120041000-120043200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr7:120041200-120041400	Enhancers	Ovary	ovary
22	chr7:120041200-120042600	Enhancers	Brain Anterior Caudate	brain
23	chr7:120041200-120043200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:120041200-120043400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr7:120041400-120042400	Weak transcription	Ovary	ovary
26	chr7:120041600-120044800	Enhancers	NHEK	skin
27	chr7:120041800-120042600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:120041800-120042800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr7:120041800-120043000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr7:120041800-120043400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr7:120041800-120043400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:120042000-120042200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:120042000-120042200	Enhancers	HUVEC	blood vessel
34	chr7:120042000-120042400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:120042000-120042400	Enhancers	Brain Germinal Matrix	brain
36	chr7:120042000-120042800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr7:120042000-120043400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr7:120042000-120044600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:120042200-120042600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:120042200-120042600	Flanking Active TSS	HUVEC	blood vessel
41	chr7:120042200-120042800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:120042200-120043400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr7:120042200-120043400	Enhancers	Rectal Smooth Muscle	rectum
44	chr7:120042200-120043400	Enhancers	NH-A	brain
45	chr7:120042200-120044200	Enhancers	HMEC	breast
46	chr7:120042200-120044800	Enhancers	Hela-S3	cervix
47	chr7:120042400-120042600	Enhancers	Ovary	ovary
48	chr7:120042400-120042800	Active TSS	GM12878-XiMat	blood
49	chr7:120042400-120043200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr7:120042400-120043200	Enhancers	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links