Variant report

Variant	nsv8209
Chromosome Location	chr7:125669650-125677228
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:125673993-125674045	LNCaP	prostate:	n/a	n/a
2	EBF1	chr7:125672557-125672692	GM12878	blood:	n/a	chr7:125672650-125672661 chr7:125672651-125672660
3	EP300	chr7:125670112-125670121	K562	blood:	n/a	n/a
4	IRF1	chr7:125671449-125671450	K562	blood:	n/a	n/a
5	KAP1	chr7:125670553-125670803	K562	blood:	n/a	n/a
6	POLR2A	chr7:125670073-125670082	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr7:125677209-125677376	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr7:125672318-125672458	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000221418	TF binding region

Extended variants
information (count: 269 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10245426	chr7:125669660-125669661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs118178510	chr7:125669673-125669674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544963218	chr7:125669694-125669695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190134558	chr7:125669709-125669710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527340111	chr7:125669843-125669844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71576260	chr7:125669846-125669847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142179378	chr7:125669864-125669865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561113957	chr7:125669876-125669877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567560367	chr7:125669880-125669881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145263696	chr7:125669881-125669882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150869037	chr7:125669903-125669904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144743750	chr7:125669914-125669915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550115750	chr7:125669923-125669924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571538435	chr7:125669956-125669957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182087984	chr7:125669970-125669971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547726436	chr7:125669995-125669996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7807004	chr7:125669996-125669997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs186726881	chr7:125670006-125670007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554623640	chr7:125670007-125670008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139320603	chr7:125670023-125670024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73720571	chr7:125670062-125670063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs73720572	chr7:125670102-125670103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs573324124	chr7:125670142-125670143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193057609	chr7:125670153-125670154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144898624	chr7:125670168-125670169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116031147	chr7:125670249-125670250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183914568	chr7:125670280-125670281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188412522	chr7:125670297-125670298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542777842	chr7:125670358-125670359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560930180	chr7:125670375-125670376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546623427	chr7:125670392-125670393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545164917	chr7:125670442-125670443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10954097	chr7:125670533-125670534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs140340923	chr7:125670557-125670558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532475210	chr7:125670560-125670561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547370018	chr7:125670572-125670573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566090988	chr7:125670585-125670586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530024277	chr7:125670607-125670608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs193016308	chr7:125670633-125670634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112771356	chr7:125670681-125670682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569789559	chr7:125670687-125670688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371450697	chr7:125670694-125670695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558685958	chr7:125670725-125670726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184517209	chr7:125670727-125670728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188830421	chr7:125670770-125670771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4620222	chr7:125670822-125670823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73220907	chr7:125670854-125670855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs553369633	chr7:125670905-125670906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1419532	chr7:125670906-125670907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs542616507	chr7:125670970-125670971	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Autism	19246517	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125646400-125687000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:125654600-125680600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:125667800-125676600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:125674400-125674800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:125674400-125674800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr7:125674600-125675000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:125676600-125676800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:125676600-125680200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:125676800-125678400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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