Variant report

Variant	nsv555143
Chromosome Location	chr11:58634232-58645098
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	chr11:58635260-58635410	HMEC	breast:	n/a	chr11:58635322-58635331
3	CTCF	chr11:58635227-58635452	NHEK	skin:	n/a	chr11:58635322-58635331
4	CTCF	chr11:58639263-58639310	Fibrobl	skin:	n/a	n/a
5	CTCF	chr11:58635240-58635390	NHEK	skin:	n/a	chr11:58635322-58635331
6	CTCF	chr11:58635180-58635330	NHEK	skin:	n/a	n/a
7	FOS	chr11:58634999-58635414	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr11:58635123-58635280	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr11:58635057-58635323	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr11:58635070-58635352	MCF10A-Er-Src	breast:	n/a	n/a
11	FOXA2	chr11:58644286-58644682	A549	lung:	n/a	n/a
12	JUND	chr11:58635160-58635292	K562	blood:	n/a	n/a
13	MYC	chr11:58634454-58634654	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr11:58634482-58634605	ProgFib	skin:	n/a	n/a
15	SPI1	chr11:58640615-58640814	GM12878	blood:	n/a	n/a
16	SPI1	chr11:58635756-58636084	HL-60	blood:	n/a	n/a
17	SPI1	chr11:58635809-58635914	K562	blood:	n/a	n/a
18	STAT3	chr11:58634929-58635240	MCF10A-Er-Src	breast:	n/a	chr11:58635166-58635177
19	STAT3	chr11:58634988-58635327	MCF10A-Er-Src	breast:	n/a	chr11:58635166-58635177
20	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: 462 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:462 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549021877	chr11:58634396-58634397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147907315	chr11:58634403-58634404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536838267	chr11:58634412-58634413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531399546	chr11:58634441-58634442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74582033	chr11:58634468-58634469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571429875	chr11:58634479-58634480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538897760	chr11:58634488-58634489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547731538	chr11:58634499-58634500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141501990	chr11:58634523-58634524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536298985	chr11:58634549-58634550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191592904	chr11:58634563-58634564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75625668	chr11:58634575-58634576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77234666	chr11:58634598-58634599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374153399	chr11:58634669-58634670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556686952	chr11:58634690-58634691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183198644	chr11:58634693-58634694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs621584	chr11:58634763-58634764	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs147036995	chr11:58634784-58634785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572108186	chr11:58634812-58634813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138338824	chr11:58634825-58634826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201279761	chr11:58634861-58634862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79100769	chr11:58634886-58634887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531863169	chr11:58634998-58634999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550030008	chr11:58635008-58635009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142626532	chr11:58635015-58635016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545350984	chr11:58635142-58635143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554659783	chr11:58635211-58635212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566019600	chr11:58635217-58635218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187860865	chr11:58635249-58635250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574532239	chr11:58635257-58635258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548235994	chr11:58635263-58635264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192627463	chr11:58635274-58635275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566942977	chr11:58635277-58635278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540214521	chr11:58635307-58635308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537112987	chr11:58635391-58635392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558375366	chr11:58635414-58635415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560215621	chr11:58635429-58635430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371082705	chr11:58635463-58635464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150279492	chr11:58635491-58635492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77660053	chr11:58635503-58635504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76976009	chr11:58635504-58635505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74719027	chr11:58635505-58635506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545745169	chr11:58635524-58635525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538890010	chr11:58635550-58635551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554036765	chr11:58635573-58635574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375640637	chr11:58635577-58635578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572442913	chr11:58635591-58635592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534762035	chr11:58635598-58635599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138879339	chr11:58635635-58635636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576374752	chr11:58635663-58635664	Weak transcription 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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58631400-58635000	Enhancers	Thymus	Thymus
2	chr11:58632800-58634600	Enhancers	Fetal Thymus	thymus
3	chr11:58634000-58634800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:58634000-58635800	Enhancers	NHEK	skin
5	chr11:58634200-58634600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:58634200-58635600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:58634400-58635000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:58634400-58635600	Enhancers	HMEC	breast
9	chr11:58634800-58635400	Enhancers	NHDF-Ad	bronchial
10	chr11:58634800-58635600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:58635000-58635600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr11:58635000-58636000	Weak transcription	Thymus	Thymus
13	chr11:58635000-58668000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:58635600-58637600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:58636000-58636200	Enhancers	Thymus	Thymus
16	chr11:58637600-58638200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr11:58638200-58638400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:58643600-58644800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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