Variant report

Variant	nsv965724
Chromosome Location	chr6:49316485-49326297
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	CCNT2	chr6:49325957-49326110	K562	blood:	n/a	n/a
2	CEBPD	chr6:49319355-49319822	K562	blood:	n/a	n/a
3	CEBPD	chr6:49319281-49319872	K562	blood:	n/a	n/a
4	E2F4	chr6:49320176-49320256	MCF10A-Er-Src	breast:	n/a	n/a
5	GATA1	chr6:49319215-49319874	K562	blood:	n/a	n/a
6	GATA2	chr6:49319326-49319744	K562	blood:	n/a	n/a
7	GATA3	chr6:49319402-49319606	SH-SY5Y	brain:	n/a	n/a
8	MYC	chr6:49321925-49322001	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr6:49320166-49320313	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr6:49321129-49321188	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr6:49322047-49322049	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr6:49324343-49324705	MCF10A-Er-Src	breast:	n/a	n/a
13	USF2	chr6:49325906-49326022	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:49305110..49306958-chr6:49313683..49316674,2	K562	blood:

Variant related genes	Relation type
RNU7-65P	TF binding region

Extended variants
information (count: 424 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9473536	chr6:49316499-49316500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563976871	chr6:49316509-49316510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9473537	chr6:49316512-49316513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549475477	chr6:49316523-49316524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113569024	chr6:49316527-49316528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367886816	chr6:49316579-49316580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7764837	chr6:49316597-49316598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567062856	chr6:49316609-49316610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76687869	chr6:49316614-49316615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552741121	chr6:49316619-49316620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570829574	chr6:49316632-49316633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79387394	chr6:49316712-49316713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538370577	chr6:49316713-49316714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556117431	chr6:49316740-49316741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs496864	chr6:49316741-49316742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs563547415	chr6:49316751-49316752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181228472	chr6:49316841-49316842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553607670	chr6:49316889-49316890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138652128	chr6:49316940-49316941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117697997	chr6:49316989-49316990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78983345	chr6:49317011-49317012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576043215	chr6:49317023-49317024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543534952	chr6:49317030-49317031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111812168	chr6:49317066-49317067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78139706	chr6:49317123-49317124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35073033	chr6:49317151-49317152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528939206	chr6:49317165-49317166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188753882	chr6:49317195-49317196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560721503	chr6:49317200-49317201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112882808	chr6:49317208-49317209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368533938	chr6:49317211-49317212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552461873	chr6:49317222-49317223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571052559	chr6:49317233-49317234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537950381	chr6:49317238-49317239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549901038	chr6:49317240-49317241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574789852	chr6:49317245-49317246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532079761	chr6:49317253-49317254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535410210	chr6:49317266-49317267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34910147	chr6:49317272-49317273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553769650	chr6:49317289-49317290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs386701002	chr6:49317290-49317291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539753248	chr6:49317291-49317292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs493700	chr6:49317292-49317293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs576236730	chr6:49317310-49317311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372307373	chr6:49317328-49317329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543536249	chr6:49317345-49317346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555463651	chr6:49317373-49317374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559151526	chr6:49317417-49317418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573784022	chr6:49317421-49317422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541000298	chr6:49317482-49317483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bladder cancer	21909424	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49310800-49328000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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