Variant report

Variant	nsv1035087
Chromosome Location	chr7:125585950-125610829
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:125606198..125608530-chr7:125608776..125611774,2	K562	blood:
2	chr7:125598344..125601168-chr7:125601374..125603496,2	K562	blood:
3	chr7:125598344..125601168-chr7:125601374..125603496,2	K562	blood:
4	chr7:125606198..125608530-chr7:125608776..125611774,2	K562	blood:

Extended variants
information (count: 913 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:913 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552408722	chr7:125585979-125585980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10269639	chr7:125586014-125586015	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs75884399	chr7:125586036-125586037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552863636	chr7:125586041-125586042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187632849	chr7:125586100-125586101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541858887	chr7:125586156-125586157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563746813	chr7:125586200-125586201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143064932	chr7:125586245-125586246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76050428	chr7:125586262-125586263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13238903	chr7:125586361-125586362	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs75073140	chr7:125586403-125586404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547177224	chr7:125586423-125586424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367850055	chr7:125586430-125586431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs193222002	chr7:125586463-125586464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550983620	chr7:125586552-125586553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9656343	chr7:125586554-125586555	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs185009362	chr7:125586580-125586581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558252503	chr7:125586588-125586589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17149081	chr7:125586634-125586635	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs151144014	chr7:125586660-125586661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570931399	chr7:125586684-125586685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187447064	chr7:125586698-125586699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140051898	chr7:125586762-125586763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74369043	chr7:125586780-125586781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114799837	chr7:125586819-125586820	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192296572	chr7:125586820-125586821	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546188191	chr7:125586839-125586840	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115561017	chr7:125586848-125586849	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528549789	chr7:125586870-125586871	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184142198	chr7:125586893-125586894	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562348394	chr7:125586905-125586906	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2402802	chr7:125586941-125586942	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs6952774	chr7:125586947-125586948	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs190037325	chr7:125586955-125586956	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530439895	chr7:125587020-125587021	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558054594	chr7:125587029-125587030	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181303938	chr7:125587036-125587037	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551714714	chr7:125587066-125587067	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184304566	chr7:125587087-125587088	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534457292	chr7:125587156-125587157	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552782215	chr7:125587162-125587163	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568278728	chr7:125587178-125587179	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535269095	chr7:125587179-125587180	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557241691	chr7:125587238-125587239	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575411433	chr7:125587244-125587245	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539848227	chr7:125587281-125587282	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558231820	chr7:125587317-125587318	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573267163	chr7:125587328-125587329	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189259111	chr7:125587502-125587503	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138221489	chr7:125587545-125587546	Weak transcription Genic enhancers Enhancers	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
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

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125574000-125597400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:125582400-125596600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:125582800-125596400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:125583200-125586800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:125583200-125596400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:125583600-125586000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:125584800-125587400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:125586800-125588000	Genic enhancers	H9 Cell Line	embryonic stem cell
9	chr7:125587200-125587800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:125587400-125590000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:125588000-125593400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:125590000-125595400	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:125591600-125591800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:125591800-125592000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:125593400-125595000	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr7:125593800-125596400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:125595000-125625000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:125595400-125596400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:125596400-125596800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr7:125596400-125597000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr7:125596400-125597000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
22	chr7:125596400-125597200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr7:125596600-125597200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:125596800-125623400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:125597000-125599200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr7:125597000-125601200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:125597200-125601000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:125597200-125617400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:125599000-125599800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr7:125599200-125599600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr7:125599200-125599600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr7:125601400-125601600	Enhancers	HUES64 Cell Line	embryonic stem cell

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