Variant report

Variant	nsv983057
Chromosome Location	chr11:100536747-100538059
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	EP300	chr11:100537661-100537845	K562	blood:	n/a	n/a
2	GATA2	chr11:100537514-100537862	K562	blood:	n/a	n/a
3	JUND	chr11:100536835-100537133	K562	blood:	n/a	n/a
4	RCOR1	chr11:100537604-100537918	K562	blood:	n/a	n/a
5	TAL1	chr11:100536898-100537133	K562	blood:	n/a	n/a
6	TAL1	chr11:100537557-100537944	K562	blood:	n/a	n/a
7	TEAD4	chr11:100537600-100537923	K562	blood:	n/a	n/a
8	TEAD4	chr11:100537584-100537891	K562	blood:	n/a	n/a
9	ZMIZ1	chr11:100537722-100537775	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000255059	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 79 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550080981	chr11:100536752-100536753	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs569945053	chr11:100536825-100536826	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs548541594	chr11:100536865-100536866	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs568799037	chr11:100536891-100536892	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs535733241	chr11:100536901-100536902	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs373054402	chr11:100537005-100537006	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs116979231	chr11:100537011-100537012	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs565733698	chr11:100537109-100537110	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs139633364	chr11:100537119-100537120	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs142718243	chr11:100537220-100537221	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs568525966	chr11:100537225-100537226	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs150584172	chr11:100537234-100537235	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs537579377	chr11:100537243-100537244	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs201606685	chr11:100537250-100537251	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs79152974	chr11:100537275-100537276	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs374436988	chr11:100537285-100537286	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs576342752	chr11:100537299-100537300	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs551109508	chr11:100537312-100537313	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs2134301	chr11:100537407-100537408	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs561914463	chr11:100537420-100537421	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs149770984	chr11:100537425-100537426	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs540638428	chr11:100537483-100537484	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs79527137	chr11:100537484-100537485	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs532867974	chr11:100537494-100537495	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs549499958	chr11:100537554-100537555	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs563531951	chr11:100537565-100537566	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs4094357	chr11:100537601-100537602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529491113	chr11:100537611-100537612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182350628	chr11:100537627-100537628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565997914	chr11:100537628-100537629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200015310	chr11:100537642-100537643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114212634	chr11:100537752-100537753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188443725	chr11:100537763-100537764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192664014	chr11:100537781-100537782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578216234	chr11:100537801-100537802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182988748	chr11:100537811-100537812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs683797	chr11:100537827-100537828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs683796	chr11:100537828-100537829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187462887	chr11:100537852-100537853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574180737	chr11:100537860-100537861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535602435	chr11:100537869-100537870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs683694	chr11:100537895-100537896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555618527	chr11:100537897-100537898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs199899678	chr11:100537905-100537906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541346847	chr11:100537921-100537922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs180831909	chr11:100537948-100537949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563913328	chr11:100537957-100537958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146772675	chr11:100537979-100537980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191953923	chr11:100538033-100538034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs80117419	chr11:100538042-100538043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100535000-100536800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr11:100535000-100537000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr11:100535000-100541000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:100535200-100541400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:100535200-100547400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:100535400-100536800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:100536600-100537000	Enhancers	Fetal Lung	lung
8	chr11:100536600-100537000	Active TSS	K562	blood
9	chr11:100536600-100537200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr11:100536800-100537200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr11:100537000-100537200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr11:100537000-100537400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr11:100537000-100537600	Flanking Active TSS	K562	blood
14	chr11:100537200-100547400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:100537600-100547600	Weak transcription	K562	blood
16	chr11:100537800-100539000	Enhancers	Liver	Liver

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