Variant report

Variant	nsv889176
Chromosome Location	chr7:125687968-125730694
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:125683918..125686254-chr7:125689679..125692270,2	K562	blood:
2	chr7:125717773..125720293-chr7:125877157..125879096,2	K562	blood:

Extended variants
information (count: 884 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:884 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6976605	chr7:125687968-125687969	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188157555	chr7:125688070-125688071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567617878	chr7:125688071-125688072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538319541	chr7:125688085-125688086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146825559	chr7:125688118-125688119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140491030	chr7:125688197-125688198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538958498	chr7:125688210-125688211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182434065	chr7:125688267-125688268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199656108	chr7:125688278-125688279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149988250	chr7:125688299-125688300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369597321	chr7:125688333-125688334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186993272	chr7:125688344-125688345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555328155	chr7:125688358-125688359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573683376	chr7:125688394-125688395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530571016	chr7:125688448-125688449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145169796	chr7:125688506-125688507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562714003	chr7:125688540-125688541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550402344	chr7:125688557-125688558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577871884	chr7:125688597-125688598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79729224	chr7:125688700-125688701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149220284	chr7:125688711-125688712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527698614	chr7:125688712-125688713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190626649	chr7:125688728-125688729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561310679	chr7:125688733-125688734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549055877	chr7:125688773-125688774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs719505	chr7:125688781-125688782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs546833652	chr7:125688805-125688806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570647116	chr7:125688836-125688837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560868621	chr7:125688857-125688858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534579815	chr7:125688921-125688922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566746389	chr7:125688964-125688965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181878726	chr7:125688979-125688980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185805295	chr7:125689041-125689042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190210499	chr7:125689085-125689086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538939325	chr7:125689149-125689150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566279951	chr7:125689168-125689169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544847381	chr7:125689175-125689176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559900639	chr7:125689250-125689251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6962427	chr7:125689293-125689294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs376924909	chr7:125689331-125689332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182429370	chr7:125689373-125689374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556246973	chr7:125689385-125689386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146914563	chr7:125689477-125689478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545188042	chr7:125689479-125689480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553914916	chr7:125689491-125689492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185130882	chr7:125689506-125689507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542901830	chr7:125689517-125689518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147955611	chr7:125689533-125689534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531555731	chr7:125689559-125689560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76694354	chr7:125689588-125689589	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
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	20808228	CNVD
Autism	19246517	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125681400-125697600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:125681800-125690600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:125682000-125696600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:125712600-125713200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:125716800-125717000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:125717000-125717200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:125717800-125724200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:125719000-125719400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:125719000-125719600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:125719000-125719800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:125719000-125720000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:125719200-125719400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:125719200-125720200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:125719400-125719600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr7:125719400-125724400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:125719400-125731800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:125719600-125724600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr7:125719600-125726000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:125724200-125724800	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr7:125724400-125725600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr7:125724600-125726200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
22	chr7:125724800-125730600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:125727000-125728600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:125727400-125727600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:125727400-125728000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
26	chr7:125727600-125727800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:125727800-125732200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:125728000-125729000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:125728800-125729200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:125728800-125729200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:125729000-125729400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr7:125729400-125730200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:125730200-125734400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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