Variant report

Variant	nsv889117
Chromosome Location	chr7:120122040-120266458
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:52)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:120144217..120146457-chr7:120151429..120153317,2	K562	blood:
2	chr7:120144217..120146457-chr7:120151429..120153317,2	K562	blood:
3	chr7:120188005..120190003-chr7:120191497..120193779,2	K562	blood:
4	chr7:120191418..120193640-chr7:120194004..120197390,3	K562	blood:
5	chr7:120237810..120240402-chr7:120242106..120244739,2	K562	blood:
6	chr7:120260960..120263312-chr7:120264903..120266573,2	K562	blood:
7	chr7:120255038..120256549-chr7:120260668..120263169,2	MCF-7	breast:
8	chr7:120173889..120175892-chr7:120179187..120180954,2	K562	blood:
9	chr7:120182960..120185753-chr7:120186479..120188988,2	K562	blood:
10	chr7:120260960..120263312-chr7:120264903..120266573,2	K562	blood:
11	chr7:120031308..120032856-chr7:120160102..120161912,2	K562	blood:
12	chr7:120185278..120187697-chr7:120193746..120195499,2	K562	blood:
13	chr7:120237810..120240402-chr7:120242106..120244739,2	K562	blood:
14	chr7:120195175..120197471-chr7:120198217..120202322,3	K562	blood:
15	chr7:120195175..120197471-chr7:120198217..120202322,3	K562	blood:
16	chr7:120154322..120156869-chr7:120164089..120165896,2	K562	blood:
17	chr7:120188005..120190003-chr7:120191497..120193779,2	K562	blood:
18	chr7:120127187..120129760-chr7:120143194..120145988,2	K562	blood:
19	chr7:120191848..120193653-chr7:120199264..120201015,2	K562	blood:
20	chr7:120199964..120202545-chr7:120204366..120206093,2	K562	blood:
21	chr7:120191418..120193640-chr7:120194004..120197390,3	K562	blood:
22	chr7:118910007..118910665-chr7:120194855..120195659,2	MCF-7	breast:
23	chr7:120169390..120172327-chr7:120172901..120174536,2	MCF-7	breast:
24	chr7:120134846..120137159-chr7:120137881..120139817,2	K562	blood:
25	chr7:120228145..120230622-chr7:120239909..120241778,2	K562	blood:
26	chr7:120231353..120234139-chr7:120234405..120236085,2	MCF-7	breast:
27	chr7:120154322..120156869-chr7:120164089..120165896,2	K562	blood:
28	chr7:120256216..120258025-chr7:120260125..120261827,2	K562	blood:
29	chr7:120196322..120196976-chr7:120356989..120357794,2	MCF-7	breast:
30	chr7:120169390..120172327-chr7:120172901..120174536,2	MCF-7	breast:
31	chr7:120173889..120175892-chr7:120179187..120180954,2	K562	blood:
32	chr7:120115577..120117354-chr7:120124597..120127119,2	MCF-7	breast:
33	chr7:120185278..120187697-chr7:120193746..120195499,2	K562	blood:
34	chr7:120191134..120192918-chr7:120193814..120196411,2	K562	blood:
35	chr7:120228145..120230622-chr7:120239909..120241778,2	K562	blood:
36	chr7:120191134..120192918-chr7:120193814..120196411,2	K562	blood:
37	chr7:120134846..120137159-chr7:120137881..120139817,2	K562	blood:
38	chr7:120204677..120206283-chr7:120210805..120213588,2	MCF-7	breast:
39	chr7:120191848..120193653-chr7:120199264..120201015,2	K562	blood:
40	chr7:120183666..120186055-chr7:120187488..120190847,3	K562	blood:
41	chr7:120256216..120258025-chr7:120260125..120261827,2	K562	blood:
42	chr7:120127187..120129760-chr7:120143194..120145988,2	K562	blood:
43	chr7:120204677..120206283-chr7:120210805..120213588,2	MCF-7	breast:
44	chr7:120231353..120234139-chr7:120234405..120236085,2	MCF-7	breast:
45	chr7:120180481..120182755-chr7:120186215..120188744,2	K562	blood:
46	chr7:120195090..120195825-chr7:120365406..120366067,2	MCF-7	breast:
47	chr7:120255038..120256549-chr7:120260668..120263169,2	MCF-7	breast:
48	chr7:120264933..120266769-chr7:120268745..120271169,2	K562	blood:
49	chr7:120183666..120186055-chr7:120187488..120190847,3	K562	blood:
50	chr7:120180481..120182755-chr7:120186215..120188744,2	K562	blood:

No data

Extended variants
information (count: 4460 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:4460 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12531730	chr7:120122040-120122041	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551662350	chr7:120122057-120122058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571906004	chr7:120122058-120122059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74353733	chr7:120122072-120122073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551345134	chr7:120122108-120122109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567620785	chr7:120122113-120122114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs151279954	chr7:120122138-120122139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7788666	chr7:120122151-120122152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs190328368	chr7:120122160-120122161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372611118	chr7:120122174-120122175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539155619	chr7:120122184-120122185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557518859	chr7:120122213-120122214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113085224	chr7:120122216-120122217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573726955	chr7:120122244-120122245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536332501	chr7:120122268-120122269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112841647	chr7:120122272-120122273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370050160	chr7:120122314-120122315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150424303	chr7:120122353-120122354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542280388	chr7:120122422-120122423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559329329	chr7:120122433-120122434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528160723	chr7:120122509-120122510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147726160	chr7:120122556-120122557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182905306	chr7:120122608-120122609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75215959	chr7:120122617-120122618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142532724	chr7:120122645-120122646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35570831	chr7:120122682-120122683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567979468	chr7:120122684-120122685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115400167	chr7:120122690-120122691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546660979	chr7:120122708-120122709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557678209	chr7:120122722-120122723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188514042	chr7:120122732-120122733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538752102	chr7:120122778-120122779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558628807	chr7:120122836-120122837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571068189	chr7:120122852-120122853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201823405	chr7:120122858-120122859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193231530	chr7:120122864-120122865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10263627	chr7:120122951-120122952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs573832194	chr7:120122958-120122959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116254453	chr7:120122963-120122964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552686318	chr7:120122967-120122968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572845130	chr7:120122970-120122971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545081386	chr7:120122976-120122977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185718033	chr7:120122988-120122989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139302123	chr7:120123017-120123018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73435891	chr7:120123065-120123066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577859288	chr7:120123071-120123072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189093936	chr7:120123142-120123143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547315873	chr7:120123161-120123162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566705969	chr7:120123255-120123256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149251378	chr7:120123288-120123289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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

Chromatin state (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120103800-120122400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:120117400-120126400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:120119200-120126200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:120119600-120126200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:120119800-120126200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:120121200-120131200	Weak transcription	GM12878-XiMat	blood
7	chr7:120122400-120122600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:120122600-120139400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:120125600-120127800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:120125800-120126400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:120126200-120127800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:120126200-120127800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:120126200-120127800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:120126200-120127800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:120126200-120127800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr7:120126400-120126600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr7:120126400-120126800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:120126400-120127200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:120126400-120127800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:120126400-120128000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr7:120126600-120127600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:120126800-120127200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr7:120127600-120127800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr7:120127600-120127800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:120127800-120128400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:120127800-120139400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:120127800-120141800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:120128000-120130600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr7:120130600-120130800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr7:120130600-120130800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr7:120132600-120133200	ZNF genes & repeats	GM12878-XiMat	blood
32	chr7:120134600-120136400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:120135000-120136400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:120135400-120135600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:120135600-120136200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:120136200-120136400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:120136400-120142200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:120139400-120140000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr7:120140000-120141400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr7:120140400-120140600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr7:120140600-120141800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr7:120141000-120142000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr7:120141000-120142200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr7:120141400-120142000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr7:120141800-120142000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:120141800-120142000	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr7:120141800-120142800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr7:120142000-120142200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr7:120142000-120142200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr7:120142000-120142800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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