Variant report

Variant	nsv1027575
Chromosome Location	chr7:125395345-125429650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:125384743..125387377-chr7:125395816..125398229,2	K562	blood:
2	chr7:125425665..125427173-chr7:125429693..125431589,2	K562	blood:
3	chr7:125391124..125394118-chr7:125397604..125400061,2	K562	blood:
4	chr7:125414524..125416692-chr7:125417841..125420169,2	K562	blood:
5	chr7:125414524..125416692-chr7:125417841..125420169,2	K562	blood:

Extended variants
information (count: 376 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:376 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190643369	chr7:125412474-125412475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544737805	chr7:125412495-125412496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs199942351	chr7:125412570-125412571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564911128	chr7:125412578-125412579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76561036	chr7:125412626-125412627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548916089	chr7:125412629-125412630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560763795	chr7:125412672-125412673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373806859	chr7:125412690-125412691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567502841	chr7:125412703-125412704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182932409	chr7:125412785-125412786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549493726	chr7:125412889-125412890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187658102	chr7:125412902-125412903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530399070	chr7:125412907-125412908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538414682	chr7:125412914-125412915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79912500	chr7:125412917-125412918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150235304	chr7:125412939-125412940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199748017	chr7:125412953-125412954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201987089	chr7:125412954-125412955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370397702	chr7:125412955-125412956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182844809	chr7:125412956-125412957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201901881	chr7:125412996-125412997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs199846030	chr7:125413006-125413007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576390667	chr7:125413011-125413012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1859190	chr7:125413014-125413015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112055323	chr7:125413015-125413016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559063243	chr7:125413112-125413113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577430977	chr7:125413171-125413172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541597919	chr7:125413175-125413176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559991435	chr7:125413211-125413212	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372170412	chr7:125413253-125413254	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115839107	chr7:125413260-125413261	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187521485	chr7:125413267-125413268	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560918533	chr7:125413295-125413296	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs67477800	chr7:125413309-125413310	Flanking Active TSS Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs543030029	chr7:125413339-125413340	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147928049	chr7:125413345-125413346	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372211042	chr7:125413412-125413413	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376531764	chr7:125413476-125413477	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6977436	chr7:125413486-125413487	Flanking Active TSS Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs565779503	chr7:125413493-125413494	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529984492	chr7:125413532-125413533	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114247242	chr7:125413538-125413539	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141279389	chr7:125413562-125413563	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs193166489	chr7:125413580-125413581	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559000793	chr7:125413592-125413593	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570910220	chr7:125413604-125413605	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs146951791	chr7:125413613-125413614	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs553517299	chr7:125413633-125413634	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs552352934	chr7:125413672-125413673	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs574962013	chr7:125413676-125413677	Active TSS Enhancers ZNF genes & repeats	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
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
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20858243	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125412400-125413200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr7:125412400-125413800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:125412600-125413400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:125412800-125413200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr7:125413000-125413800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr7:125413000-125413800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:125413200-125413600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr7:125413200-125413800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr7:125413200-125413800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:125413200-125414000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:125413400-125413600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr7:125413400-125413800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr7:125413600-125413800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr7:125413600-125413800	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr7:125413600-125413800	ZNF genes & repeats	Pancreas	Pancrea
16	chr7:125413800-125421400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:125414000-125414200	Weak transcription	Pancreas	Pancrea
18	chr7:125417600-125417800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:125417800-125418000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
20	chr7:125421400-125421600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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