Variant report

Variant	nsv889178
Chromosome Location	chr7:125695800-125791900
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:125782315..125785004-chr7:125785020..125787237,2	MCF-7	breast:
2	chr7:125779581..125782022-chr7:125791583..125793511,2	K562	blood:
3	chr7:125779581..125782022-chr7:125791583..125793511,2	K562	blood:
4	chr7:125782315..125785004-chr7:125785020..125787237,2	MCF-7	breast:
5	chr7:125760007..125761516-chr7:125765341..125767216,2	K562	blood:
6	chr7:125717773..125720293-chr7:125877157..125879096,2	K562	blood:
7	chr3:64659748..64660652-chr7:125742703..125743269,2	MCF-7	breast:
8	chr7:125760007..125761516-chr7:125765341..125767216,2	K562	blood:

No data

Extended variants
information (count: 928 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:928 , 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	rs7803108	chr7:125695800-125695801	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140797523	chr7:125695839-125695840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542731678	chr7:125695878-125695879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561009556	chr7:125695881-125695882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144632615	chr7:125695890-125695891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7803256	chr7:125695892-125695893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs548967049	chr7:125695901-125695902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147868894	chr7:125695903-125695904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6467069	chr7:125696037-125696038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs185235764	chr7:125696041-125696042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566368561	chr7:125696064-125696065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531464237	chr7:125696116-125696117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533748130	chr7:125696131-125696132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116456717	chr7:125696142-125696143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1592386	chr7:125696159-125696160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs537935415	chr7:125696168-125696169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140194014	chr7:125696212-125696213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577725925	chr7:125696223-125696224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538558862	chr7:125696243-125696244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145618592	chr7:125696317-125696318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189714144	chr7:125696372-125696373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113102550	chr7:125696377-125696378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377423276	chr7:125696396-125696397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181190864	chr7:125696402-125696403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375539078	chr7:125696404-125696405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186023736	chr7:125696421-125696422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576172326	chr7:125696428-125696429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1582261	chr7:125696504-125696505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs190878390	chr7:125696513-125696514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532713533	chr7:125696542-125696543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs151114175	chr7:125696551-125696552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181936407	chr7:125696576-125696577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530397814	chr7:125696577-125696578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550696038	chr7:125696598-125696599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117326610	chr7:125696608-125696609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537947637	chr7:125696619-125696620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141069559	chr7:125696635-125696636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149819653	chr7:125696653-125696654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538790204	chr7:125696684-125696685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553666984	chr7:125696685-125696686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372580268	chr7:125696696-125696697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536136089	chr7:125696708-125696709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566601802	chr7:125696761-125696762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201726354	chr7:125696824-125696825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72091461	chr7:125696856-125696857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550013125	chr7:125696862-125696863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199789469	chr7:125696866-125696867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200732111	chr7:125696867-125696868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146289807	chr7:125696870-125696871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377081256	chr7:125696915-125696916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:49 , 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	chr7:125682000-125696600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:125712600-125713200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:125716800-125717000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:125717000-125717200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:125717800-125724200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:125719000-125719400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:125719000-125719600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:125719000-125719800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:125719000-125720000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:125719200-125719400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:125719200-125720200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:125719400-125719600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr7:125719400-125724400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:125719400-125731800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:125719600-125724600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr7:125719600-125726000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:125724200-125724800	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr7:125724400-125725600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr7:125724600-125726200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
21	chr7:125724800-125730600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:125727000-125728600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:125727400-125727600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:125727400-125728000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
25	chr7:125727600-125727800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:125727800-125732200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:125728000-125729000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:125728800-125729200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:125728800-125729200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:125729000-125729400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
31	chr7:125729400-125730200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:125730200-125734400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
33	chr7:125731400-125733800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:125731800-125734400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:125732000-125733000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
36	chr7:125732200-125732600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:125732200-125732800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
38	chr7:125732200-125734000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
39	chr7:125732800-125736400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr7:125734400-125735200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:125735200-125735400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:125777800-125778200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr7:125777800-125779000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr7:125790600-125791200	Enhancers	Brain Germinal Matrix	brain
45	chr7:125791600-125792000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr7:125791600-125792200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr7:125791600-125792600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr7:125791800-125792000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:125791800-125792000	Bivalent Enhancer	Fetal Brain Male	brain

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