Variant report

Variant	nsv975185
Chromosome Location	chr11:56268021-56280681
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	chr11:56278486-56278528	GM13976	blood:	n/a	n/a
2	CTCF	chr11:56276892-56276949	GM13976	blood:	n/a	n/a
3	CTCF	chr11:56275871-56275912	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr11:56275976-56276045	Medullo	brain:	n/a	n/a
5	MYC	chr11:56278425-56278446	GM12878	blood:	n/a	n/a
6	MYC	chr11:56274001-56274227	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr11:56268274-56268297	A549	lung:	n/a	n/a
8	POLR2A	chr11:56280178-56280240	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:56272900-56272971	GM12878	blood:	n/a	n/a
10	SPI1	chr11:56270481-56270629	K562	blood:	n/a	n/a

Variant related genes	Relation type
OR5M7P	TF binding region
OR5M6P	TF binding region
ENSG00000254660	TF binding region

Extended variants
information (count: 263 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:263 , 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	rs145663782	chr11:56269403-56269404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12577186	chr11:56269410-56269411	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs556394988	chr11:56269412-56269413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532143299	chr11:56269439-56269440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577924273	chr11:56269466-56269467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545096470	chr11:56269474-56269475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370275531	chr11:56269525-56269526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76585634	chr11:56269566-56269567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540033465	chr11:56269572-56269573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187680411	chr11:56269573-56269574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs612590	chr11:56269584-56269585	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs550603430	chr11:56269588-56269589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562465146	chr11:56269615-56269616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115165961	chr11:56269619-56269620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551124945	chr11:56269632-56269633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192655623	chr11:56269643-56269644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111796220	chr11:56269712-56269713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185651561	chr11:56269757-56269758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567822954	chr11:56269763-56269764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538060650	chr11:56269801-56269802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190455960	chr11:56269990-56269991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12290654	chr11:56269999-56270000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571666627	chr11:56270006-56270007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs367981128	chr11:56270097-56270098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553923315	chr11:56270121-56270122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181579560	chr11:56270162-56270163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540093307	chr11:56270215-56270216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555245441	chr11:56270221-56270222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142450858	chr11:56270244-56270245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574721051	chr11:56270261-56270262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142890482	chr11:56270272-56270273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544089477	chr11:56270307-56270308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562586616	chr11:56270313-56270314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533614797	chr11:56270315-56270316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199524311	chr11:56270319-56270320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200802796	chr11:56270337-56270338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532914580	chr11:56270356-56270357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201706714	chr11:56270407-56270408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35672830	chr11:56270430-56270431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199739688	chr11:56270433-56270434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35598917	chr11:56270444-56270445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544987587	chr11:56270448-56270449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576381112	chr11:56270480-56270481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527293636	chr11:56270508-56270509	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs549653995	chr11:56270527-56270528	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs184481595	chr11:56270561-56270562	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs374114111	chr11:56270562-56270563	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs368216209	chr11:56270600-56270601	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs550143306	chr11:56270610-56270611	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs545779727	chr11:56270628-56270629	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:46)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56269400-56271000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr11:56271200-56271800	Enhancers	Fetal Brain Male	brain
3	chr11:56271800-56273000	Weak transcription	Fetal Brain Male	brain
4	chr11:56273000-56273600	Enhancers	Fetal Brain Male	brain
5	chr11:56279800-56281400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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