Variant report

Variant	nsv969415
Chromosome Location	chr6:64323751-64326310
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	CEBPB	chr6:64325600-64325774	Hela-S3	cervix:	n/a	chr6:64325660-64325671
2	CEBPB	chr6:64325548-64325818	IMR90	lung:	n/a	chr6:64325660-64325671
3	CEBPB	chr6:64325591-64325751	K562	blood:	n/a	chr6:64325660-64325671
4	FOS	chr6:64325620-64325771	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr6:64324416-64324434	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr6:64325658-64325702	MCF10A-Er-Src	breast:	n/a	n/a
7	JUND	chr6:64324201-64324602	K562	blood:	n/a	n/a
8	ZNF384	chr6:64324213-64324603	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000262651	TF binding region
RPL9P18	TF binding region

Extended variants
information (count: 88 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143562313	chr6:64323772-64323773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551590424	chr6:64323816-64323817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147994884	chr6:64323888-64323889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190231127	chr6:64323927-64323928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555669345	chr6:64323955-64323956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573705085	chr6:64323968-64323969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182874052	chr6:64323974-64323975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12211361	chr6:64323984-64323985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141686644	chr6:64324014-64324015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550255134	chr6:64324068-64324069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568670843	chr6:64324089-64324090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370946605	chr6:64324118-64324119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373306708	chr6:64324132-64324133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6905574	chr6:64324175-64324176	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs113294739	chr6:64324222-64324223	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs564704535	chr6:64324230-64324231	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs188144339	chr6:64324243-64324244	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs540540260	chr6:64324325-64324326	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs70999114	chr6:64324437-64324438	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs398001801	chr6:64324451-64324452	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs562016657	chr6:64324456-64324457	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs376515757	chr6:64324520-64324521	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs554542683	chr6:64324521-64324522	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs556318243	chr6:64324590-64324591	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs572678371	chr6:64324592-64324593	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs112213521	chr6:64324603-64324604	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs550593640	chr6:64324626-64324627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192375483	chr6:64324643-64324644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376940481	chr6:64324654-64324655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182630435	chr6:64324655-64324656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551545302	chr6:64324658-64324659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150124339	chr6:64324686-64324687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188968468	chr6:64324712-64324713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549180668	chr6:64324715-64324716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567600001	chr6:64324874-64324875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538128942	chr6:64324919-64324920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138525290	chr6:64324975-64324976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7766283	chr6:64325040-64325041	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs538734965	chr6:64325056-64325057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545443622	chr6:64325092-64325093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553551447	chr6:64325103-64325104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370036551	chr6:64325114-64325115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367651569	chr6:64325137-64325138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192497632	chr6:64325193-64325194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184667631	chr6:64325240-64325241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574032367	chr6:64325268-64325269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188986925	chr6:64325295-64325296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562901919	chr6:64325336-64325337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141557097	chr6:64325394-64325395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538126765	chr6:64325458-64325459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:64322800-64323800	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr6:64323000-64324200	Enhancers	Primary hematopoietic stem cells	blood
3	chr6:64323000-64325400	Weak transcription	Pancreas	Pancrea
4	chr6:64323400-64324200	Weak transcription	K562	blood
5	chr6:64324200-64324400	Enhancers	K562	blood
6	chr6:64324400-64326000	Weak transcription	K562	blood
7	chr6:64325400-64326200	Enhancers	H9 Cell Line	embryonic stem cell
8	chr6:64325400-64326200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:64325800-64326200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr6:64325800-64326400	Active TSS	Brain Cingulate Gyrus	brain
11	chr6:64326000-64326200	Enhancers	K562	blood
12	chr6:64326000-64326400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:64326000-64326400	Active TSS	Brain Anterior Caudate	brain
14	chr6:64326000-64326400	Active TSS	Brain Hippocampus Middle	brain
15	chr6:64326000-64326400	Active TSS	Brain Substantia Nigra	brain
16	chr6:64326200-64326400	Enhancers	Brain Inferior Temporal Lobe	brain

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