Variant report

Variant	nsv516686
Chromosome Location	chr7:120015843-120223084
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:68)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:68 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:120014784..120016778-chr7:120018789..120020521,2	K562	blood:
2	chr7:120154322..120156869-chr7:120164089..120165896,2	K562	blood:
3	chr7:120134846..120137159-chr7:120137881..120139817,2	K562	blood:
4	chr7:120034992..120037727-chr7:120044478..120046631,2	K562	blood:
5	chr7:119740645..119741482-chr7:120036035..120036887,2	K562	blood:
6	chr7:120199964..120202545-chr7:120204366..120206093,2	K562	blood:
7	chr7:120031308..120032856-chr7:120160102..120161912,2	K562	blood:
8	chr7:120109721..120112397-chr7:120114908..120116475,2	K562	blood:
9	chr7:115602811..115604728-chr7:120073823..120075481,2	K562	blood:
10	chr7:120204677..120206283-chr7:120210805..120213588,2	MCF-7	breast:
11	chr7:120195175..120197471-chr7:120198217..120202322,3	K562	blood:
12	chr7:120191848..120193653-chr7:120199264..120201015,2	K562	blood:
13	chr7:120180481..120182755-chr7:120186215..120188744,2	K562	blood:
14	chr7:120057414..120060150-chr7:120060471..120063689,3	K562	blood:
15	chr7:120195175..120197471-chr7:120198217..120202322,3	K562	blood:
16	chr7:120185278..120187697-chr7:120193746..120195499,2	K562	blood:
17	chr7:120199964..120202545-chr7:120204366..120206093,2	K562	blood:
18	chr7:120014784..120016778-chr7:120018789..120020521,2	K562	blood:
19	chr7:120180481..120182755-chr7:120186215..120188744,2	K562	blood:
20	chr2:154750769..154751442-chr7:120117250..120118079,2	MCF-7	breast:
21	chr7:120127187..120129760-chr7:120143194..120145988,2	K562	blood:
22	chr7:120031308..120032856-chr7:120160102..120161912,2	K562	blood:
23	chr7:120102029..120102882-chr7:120365430..120366363,2	K562	blood:
24	chr12:86629307..86629807-chr7:120030191..120030808,2	MCF-7	breast:
25	chr7:120134846..120137159-chr7:120137881..120139817,2	K562	blood:
26	chr7:120076190..120079219-chr7:120081978..120085148,3	K562	blood:
27	chr7:120154322..120156869-chr7:120164089..120165896,2	K562	blood:
28	chr7:118910007..118910665-chr7:120194855..120195659,2	MCF-7	breast:
29	chr7:120173889..120175892-chr7:120179187..120180954,2	K562	blood:
30	chr7:120144217..120146457-chr7:120151429..120153317,2	K562	blood:
31	chr7:120109721..120112397-chr7:120114908..120116475,2	K562	blood:
32	chr7:120020344..120022950-chr7:120023648..120028182,4	K562	blood:
33	chr7:120183666..120186055-chr7:120187488..120190847,3	K562	blood:
34	chr7:120191848..120193653-chr7:120199264..120201015,2	K562	blood:
35	chr7:120017341..120019640-chr7:120028959..120030500,2	K562	blood:
36	chr7:120115577..120117354-chr7:120124597..120127119,2	MCF-7	breast:
37	chr7:120115063..120116822-chr7:120117642..120119650,2	K562	blood:
38	chr7:120057414..120060150-chr7:120060471..120063689,3	K562	blood:
39	chr7:120191134..120192918-chr7:120193814..120196411,2	K562	blood:
40	chr7:120185278..120187697-chr7:120193746..120195499,2	K562	blood:
41	chr7:120169390..120172327-chr7:120172901..120174536,2	MCF-7	breast:
42	chr7:120169390..120172327-chr7:120172901..120174536,2	MCF-7	breast:
43	chr7:120191418..120193640-chr7:120194004..120197390,3	K562	blood:
44	chr7:120076190..120079219-chr7:120081978..120085148,3	K562	blood:
45	chr7:120182960..120185753-chr7:120186479..120188988,2	K562	blood:
46	chr7:120080252..120082102-chr7:120084168..120086812,2	K562	blood:
47	chr7:120017341..120019640-chr7:120028959..120030500,2	K562	blood:
48	chr7:120040994..120042804-chr7:120051408..120054371,2	K562	blood:
49	chr7:120080252..120082102-chr7:120084168..120086812,2	K562	blood:
50	chr7:120144217..120146457-chr7:120151429..120153317,2	K562	blood:

No data

Extended variants
information (count: 6603 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:6603 , 50 per page) page: 1 2 3 4 5 6 7 ... 133

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10235791	chr7:120015843-120015844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369979105	chr7:120015844-120015845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181354984	chr7:120015890-120015891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17376905	chr7:120015947-120015948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186840819	chr7:120016060-120016061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570140511	chr7:120016098-120016099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553561161	chr7:120016132-120016133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575269562	chr7:120016152-120016153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113995059	chr7:120016156-120016157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113705369	chr7:120016199-120016200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141372309	chr7:120016231-120016232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369326449	chr7:120016236-120016237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573744639	chr7:120016260-120016261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190126705	chr7:120016342-120016343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114533753	chr7:120016381-120016382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573111556	chr7:120016385-120016386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146975579	chr7:120016411-120016412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564856564	chr7:120016464-120016465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10269236	chr7:120016497-120016498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs181860152	chr7:120016569-120016570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551768397	chr7:120016573-120016574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs57234416	chr7:120016575-120016576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560977290	chr7:120016590-120016591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530190340	chr7:120016607-120016608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547195198	chr7:120016621-120016622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567020721	chr7:120016634-120016635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539304148	chr7:120016644-120016645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552480720	chr7:120016653-120016654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7800215	chr7:120016791-120016792	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs545683604	chr7:120016857-120016858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7781274	chr7:120016907-120016908	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs186587710	chr7:120016945-120016946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554602924	chr7:120016980-120016981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574877107	chr7:120017025-120017026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536030318	chr7:120017029-120017030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113644529	chr7:120017057-120017058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553145258	chr7:120017059-120017060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572985767	chr7:120017091-120017092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565483345	chr7:120017151-120017152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575581246	chr7:120017233-120017234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189809647	chr7:120017283-120017284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565223089	chr7:120017353-120017354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182119002	chr7:120017370-120017371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368231292	chr7:120017451-120017452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544232730	chr7:120017461-120017462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185962491	chr7:120017470-120017471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62471537	chr7:120017478-120017479	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs539988078	chr7:120017533-120017534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191302917	chr7:120017590-120017591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534329444	chr7:120017617-120017618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
early-passage human iPS cells	21368824	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:514 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

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	chr7:120017000-120017800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:120017600-120017800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:120024400-120024800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:120024800-120028800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:120034000-120034600	ZNF genes & repeats	GM12878-XiMat	blood
7	chr7:120034600-120035000	Flanking Active TSS	GM12878-XiMat	blood
8	chr7:120035000-120035400	Enhancers	GM12878-XiMat	blood
9	chr7:120035400-120035800	Flanking Active TSS	GM12878-XiMat	blood
10	chr7:120035600-120035800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:120035800-120036400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr7:120035800-120038000	Active TSS	GM12878-XiMat	blood
13	chr7:120036400-120041800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr7:120038000-120038400	Weak transcription	GM12878-XiMat	blood
15	chr7:120038400-120039000	ZNF genes & repeats	GM12878-XiMat	blood
16	chr7:120038600-120038800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:120038800-120039000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:120039000-120039800	Active TSS	GM12878-XiMat	blood
19	chr7:120039000-120041000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:120039800-120042400	Flanking Active TSS	GM12878-XiMat	blood
21	chr7:120041000-120041400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr7:120041000-120043200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:120041200-120041400	Enhancers	Ovary	ovary
24	chr7:120041200-120042600	Enhancers	Brain Anterior Caudate	brain
25	chr7:120041200-120043200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:120041200-120043400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:120041400-120042400	Weak transcription	Ovary	ovary
28	chr7:120041600-120044800	Enhancers	NHEK	skin
29	chr7:120041800-120042600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:120041800-120042800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr7:120041800-120043000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr7:120041800-120043400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr7:120041800-120043400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:120042000-120042200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:120042000-120042200	Enhancers	HUVEC	blood vessel
36	chr7:120042000-120042400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:120042000-120042400	Enhancers	Brain Germinal Matrix	brain
38	chr7:120042000-120042800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr7:120042000-120043400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr7:120042000-120044600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:120042200-120042600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:120042200-120042600	Flanking Active TSS	HUVEC	blood vessel
43	chr7:120042200-120042800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:120042200-120043400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr7:120042200-120043400	Enhancers	Rectal Smooth Muscle	rectum
46	chr7:120042200-120043400	Enhancers	NH-A	brain
47	chr7:120042200-120044200	Enhancers	HMEC	breast
48	chr7:120042200-120044800	Enhancers	Hela-S3	cervix
49	chr7:120042400-120042600	Enhancers	Ovary	ovary
50	chr7:120042400-120042800	Active TSS	GM12878-XiMat	blood

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