Variant report

Variant	nsv975186
Chromosome Location	chr11:56522592-56524278
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	HEY1	chr11:56523144-56523528	K562	blood:	n/a	n/a
2	POLR2A	chr11:56522703-56523600	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:56523118-56523595	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:56523451-56523568	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr11:56523120-56523454	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr11:56522416-56522629	MCF-7	breast:	n/a	n/a
7	POLR2A	chr11:56522718-56523027	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:56523199-56523371	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:56523107-56523480	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:56522998-56523614	GM12892	blood:	n/a	n/a
11	POLR2A	chr11:56522756-56523329	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr11:56522739-56523014	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:56523187-56523370	U87	brain:	n/a	n/a
14	POLR2A	chr11:56523468-56523504	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr11:56522732-56523383	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:56523159-56523409	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr11:56523020-56523585	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr11:56522765-56522777	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:56523164-56523441	GM12891	blood:	n/a	n/a
20	POLR2A	chr11:56523118-56523528	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr11:56523120-56523573	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:56523132-56523479	GM12891	blood:	n/a	n/a
23	POLR2A	chr11:56523196-56523470	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:56522701-56523441	MCF-7	breast:	n/a	n/a
25	POLR2A	chr11:56523166-56523263	K562	blood:	n/a	n/a
26	POLR2A	chr11:56522797-56523322	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr11:56523460-56523578	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:56523459-56523492	MCF-7	breast:	n/a	n/a
29	POLR2A	chr11:56523145-56523556	GM12892	blood:	n/a	n/a
30	POLR2A	chr11:56522794-56523582	GM12892	blood:	n/a	n/a
31	POLR2A	chr11:56522836-56522959	H1-hESC	embryonic stem cell:	n/a	n/a
32	POU2F2	chr11:56523168-56523367	GM12878	blood:	n/a	chr11:56523271-56523284 chr11:56523271-56523284 chr11:56523271-56523284

Variant related genes	Relation type
OR9G2P	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149063378	chr11:56522642-56522643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533194601	chr11:56522702-56522703	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs113118413	chr11:56522703-56522704	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs184334375	chr11:56522776-56522777	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs188590609	chr11:56522803-56522804	Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs545597554	chr11:56522818-56522819	Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs560438147	chr11:56522862-56522863	Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs181029769	chr11:56522870-56522871	Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs61902504	chr11:56523000-56523001	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs561305542	chr11:56523010-56523011	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs531721303	chr11:56523051-56523052	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs572363535	chr11:56523085-56523086	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs555539384	chr11:56523128-56523129	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs185819309	chr11:56523186-56523187	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs34845426	chr11:56523197-56523198	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs569190820	chr11:56523198-56523199	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs190726861	chr11:56523204-56523205	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs551556532	chr11:56523322-56523323	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs181931252	chr11:56523344-56523345	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs75053435	chr11:56523362-56523363	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs368072447	chr11:56523370-56523371	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs72921702	chr11:56523384-56523385	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs111362981	chr11:56523400-56523401	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs376391820	chr11:56523403-56523404	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs185909769	chr11:56523468-56523469	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs563661481	chr11:56523486-56523487	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs555703347	chr11:56523520-56523521	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs525860	chr11:56523570-56523571	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs190667465	chr11:56523601-56523602	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs77556449	chr11:56523645-56523646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557449402	chr11:56523680-56523681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560781734	chr11:56523702-56523703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572538079	chr11:56523708-56523709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs151163465	chr11:56523709-56523710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543279155	chr11:56523723-56523724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561344346	chr11:56523743-56523744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531810539	chr11:56523744-56523745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543848987	chr11:56523783-56523784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565233209	chr11:56523784-56523785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182884856	chr11:56523789-56523790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559811991	chr11:56523895-56523896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533306419	chr11:56523927-56523928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369556528	chr11:56523947-56523948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551380097	chr11:56523950-56523951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566696398	chr11:56523971-56523972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140366029	chr11:56523979-56523980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185596323	chr11:56524045-56524046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199822874	chr11:56524049-56524050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12420511	chr11:56524050-56524051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71860533	chr11:56524051-56524052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
T-cell prolymphocytic leukemia	19278963	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Breast cancer	17142309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56520400-56524600	Weak transcription	Dnd41	blood
2	chr11:56521800-56522800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr11:56521800-56523600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr11:56522000-56523600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr11:56522400-56522800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr11:56522400-56523400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr11:56522600-56522800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr11:56522600-56523000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr11:56522800-56523000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr11:56522800-56523200	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr11:56523000-56523600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:56523600-56523800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr11:56523800-56525200	Weak transcription	H1 Cell Line	embryonic stem cell

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