Variant report

Variant	nsv981146
Chromosome Location	chr6:54487057-54496676
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	chr6:54490124-54490241	GM20000	blood:	n/a	n/a
2	EP300	chr6:54489489-54490056	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr6:54489508-54490151	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr6:54489617-54490053	SK-N-SH	brain:	n/a	n/a
5	MAFK	chr6:54493970-54494302	IMR90	lung:	n/a	n/a
6	MAFK	chr6:54490098-54490303	HepG2	liver:	n/a	chr6:54490169-54490184
7	MAFK	chr6:54490030-54490282	HepG2	liver:	n/a	chr6:54490169-54490184
8	MXI1	chr6:54487294-54487335	GM12878	blood:	n/a	n/a
9	MYC	chr6:54488612-54488682	H1-hESC	embryonic stem cell:	n/a	n/a
10	NFIC	chr6:54489493-54489990	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr6:54494921-54494981	Gliobla	brain:	n/a	n/a
12	POLR2A	chr6:54487515-54487632	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr6:54487265-54487465	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr6:54496405-54496502	MCF10A-Er-Src	breast:	n/a	n/a
15	TCF12	chr6:54489421-54490019	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:54485033..54487186-chr6:54562620..54564688,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000220773	TF binding region

Extended variants
information (count: 156 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562869922	chr6:54487168-54487169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576851014	chr6:54487205-54487206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189372273	chr6:54487223-54487224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562298332	chr6:54487235-54487236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539308999	chr6:54487253-54487254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374739369	chr6:54487259-54487260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527908087	chr6:54487262-54487263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539435778	chr6:54487319-54487320	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs547642503	chr6:54487350-54487351	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs564219002	chr6:54487384-54487385	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs73438030	chr6:54487387-54487388	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs549787501	chr6:54487414-54487415	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs73438033	chr6:54487424-54487425	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs140055976	chr6:54487441-54487442	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs548886499	chr6:54487496-54487497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565601059	chr6:54487537-54487538	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs534822507	chr6:54487568-54487569	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs557619098	chr6:54487579-54487580	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs143685029	chr6:54487602-54487603	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs539544702	chr6:54487621-54487622	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs556630455	chr6:54487639-54487640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1415874	chr6:54487670-54487671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180817020	chr6:54487721-54487722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72954374	chr6:54487761-54487762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562383631	chr6:54487773-54487774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572610353	chr6:54487846-54487847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373726672	chr6:54487919-54487920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554812441	chr6:54487924-54487925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564523374	chr6:54487929-54487930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533082155	chr6:54487932-54487933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185175965	chr6:54487947-54487948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191106030	chr6:54487957-54487958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528870761	chr6:54488016-54488017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548527647	chr6:54488023-54488024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146801058	chr6:54488035-54488036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375680577	chr6:54488075-54488076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560526857	chr6:54488078-54488079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9464110	chr6:54488090-54488091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs551594492	chr6:54488113-54488114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150070449	chr6:54488121-54488122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1830662	chr6:54488143-54488144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs183126408	chr6:54488149-54488150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535860950	chr6:54488169-54488170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12211249	chr6:54488170-54488171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs572747478	chr6:54488188-54488189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373697396	chr6:54488198-54488199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186450292	chr6:54488203-54488204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71558893	chr6:54488225-54488226	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs577414238	chr6:54488269-54488270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545662280	chr6:54488273-54488274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	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
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54480000-54489600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:54489000-54490800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:54489200-54490400	Enhancers	Osteobl	bone
4	chr6:54489600-54490200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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