Variant report

Variant	esv1845350
Chromosome Location	chr11:58632395-58641577
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	BATF	chr11:58634982-58635318	GM12878	blood:	n/a	n/a
2	CTCF	chr11:58635240-58635390	NHEK	skin:	n/a	chr11:58635322-58635331
3	CTCF	chr11:58635180-58635330	NHEK	skin:	n/a	n/a
4	CTCF	chr11:58635260-58635410	HMEC	breast:	n/a	chr11:58635322-58635331
5	CTCF	chr11:58639263-58639310	Fibrobl	skin:	n/a	n/a
6	CTCF	chr11:58635227-58635452	NHEK	skin:	n/a	chr11:58635322-58635331
7	FOS	chr11:58635070-58635352	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr11:58635057-58635323	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr11:58635123-58635280	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr11:58634999-58635414	MCF10A-Er-Src	breast:	n/a	n/a
11	JUND	chr11:58635160-58635292	K562	blood:	n/a	n/a
12	MYC	chr11:58634454-58634654	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr11:58634482-58634605	ProgFib	skin:	n/a	n/a
14	SPI1	chr11:58640615-58640814	GM12878	blood:	n/a	n/a
15	SPI1	chr11:58635756-58636084	HL-60	blood:	n/a	n/a
16	SPI1	chr11:58635809-58635914	K562	blood:	n/a	n/a
17	STAT3	chr11:58634929-58635240	MCF10A-Er-Src	breast:	n/a	chr11:58635166-58635177
18	STAT3	chr11:58634988-58635327	MCF10A-Er-Src	breast:	n/a	chr11:58635166-58635177
19	STAT3	chr11:58635085-58635335	MCF10A-Er-Src	breast:	n/a	chr11:58635166-58635177

Variant related genes	Relation type
GLYATL1P2	TF binding region

Extended variants
information (count: 383 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs526640	chr11:58632395-58632396	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572904521	chr11:58632403-58632404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533783197	chr11:58632448-58632449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565140004	chr11:58632458-58632459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555232906	chr11:58632507-58632508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573630237	chr11:58632556-58632557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs668254	chr11:58632565-58632566	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs562314477	chr11:58632578-58632579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs667889	chr11:58632589-58632590	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs201558425	chr11:58632621-58632622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377466432	chr11:58632622-58632623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs386373890	chr11:58632623-58632624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375231606	chr11:58632629-58632630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs397944262	chr11:58632630-58632631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560200321	chr11:58632642-58632643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563208821	chr11:58632643-58632644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529076192	chr11:58632708-58632709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542367136	chr11:58632766-58632767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374899018	chr11:58632767-58632768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562354049	chr11:58632822-58632823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529641864	chr11:58632830-58632831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551280411	chr11:58632834-58632835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374388632	chr11:58632884-58632885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569124130	chr11:58632918-58632919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539822796	chr11:58632928-58632929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551579563	chr11:58632946-58632947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377447698	chr11:58632960-58632961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566665100	chr11:58632974-58632975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559430939	chr11:58633020-58633021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190023646	chr11:58633064-58633065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181718434	chr11:58633067-58633068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139408430	chr11:58633108-58633109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186234429	chr11:58633171-58633172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs665226	chr11:58633202-58633203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs5792133	chr11:58633209-58633210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs5792134	chr11:58633210-58633211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542531851	chr11:58633213-58633214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149968083	chr11:58633230-58633231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs3901271	chr11:58633235-58633236	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs553579944	chr11:58633236-58633237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144993163	chr11:58633244-58633245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540808144	chr11:58633250-58633251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562239087	chr11:58633251-58633252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs665148	chr11:58633255-58633256	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs555882	chr11:58633266-58633267	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs563242300	chr11:58633281-58633282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77148730	chr11:58633301-58633302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149093432	chr11:58633306-58633307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189473984	chr11:58633311-58633312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566601963	chr11:58633320-58633321	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	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
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58631400-58635000	Enhancers	Thymus	Thymus
2	chr11:58631600-58632400	Enhancers	Fetal Thymus	thymus
3	chr11:58632400-58632800	Weak transcription	Fetal Thymus	thymus
4	chr11:58632800-58634600	Enhancers	Fetal Thymus	thymus
5	chr11:58633800-58634000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:58634000-58634800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:58634000-58635800	Enhancers	NHEK	skin
8	chr11:58634200-58634600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:58634200-58635600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:58634400-58635000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:58634400-58635600	Enhancers	HMEC	breast
12	chr11:58634800-58635400	Enhancers	NHDF-Ad	bronchial
13	chr11:58634800-58635600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:58635000-58635600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr11:58635000-58636000	Weak transcription	Thymus	Thymus
16	chr11:58635000-58668000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:58635600-58637600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr11:58636000-58636200	Enhancers	Thymus	Thymus
19	chr11:58637600-58638200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr11:58638200-58638400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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