Variant report

Variant	esv3470685
Chromosome Location	chr11:62805647-62828111
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	chr11:62814341-62814345	ProgFib	skin:	n/a	n/a
2	CTCF	chr11:62814640-62814790	GM12864	blood:	n/a	n/a
3	CTCF	chr11:62814290-62814321	ProgFib	skin:	n/a	n/a
4	CTCF	chr11:62818376-62818430	GM10248	blood:	n/a	n/a
5	CTCF	chr11:62815324-62815355	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr11:62814640-62814790	GM12866	blood:	n/a	n/a
7	FOS	chr11:62811527-62811637	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr11:62810221-62810418	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr11:62810128-62810345	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr11:62811534-62811622	MCF10A-Er-Src	breast:	n/a	n/a
11	FOXA2	chr11:62809056-62809706	A549	lung:	n/a	n/a
12	MAFK	chr11:62821221-62821405	HepG2	liver:	n/a	chr11:62821330-62821345
13	MAFK	chr11:62821225-62821405	HepG2	liver:	n/a	chr11:62821330-62821345
14	POLR2A	chr11:62825668-62825728	A549	lung:	n/a	n/a
15	POLR2A	chr11:62814219-62814264	Gliobla	brain:	n/a	n/a
16	POLR2A	chr11:62815135-62815474	A549	lung:	n/a	n/a
17	POLR2A	chr11:62815110-62815410	Gliobla	brain:	n/a	n/a
18	POLR2A	chr11:62815101-62815102	A549	lung:	n/a	n/a
19	SPI1	chr11:62805695-62805875	HL-60	blood:	n/a	n/a
20	SPI1	chr11:62805666-62805825	GM12891	blood:	n/a	n/a
21	SPI1	chr11:62805687-62805866	K562	blood:	n/a	n/a
22	SPI1	chr11:62827716-62827910	K562	blood:	n/a	n/a
23	STAT3	chr11:62822117-62822291	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr11:62823617-62823627	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr11:62811521-62811552	MCF10A-Er-Src	breast:	n/a	n/a
26	YY1	chr11:62809797-62809978	GM12892	blood:	n/a	n/a
27	YY1	chr11:62809808-62809937	K562	blood:	n/a	n/a
28	YY1	chr11:62809758-62810000	GM12878	blood:	n/a	n/a
29	YY1	chr11:62809800-62810013	GM12892	blood:	n/a	n/a
30	YY1	chr11:62809700-62809994	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000253547	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555508140	chr11:62809286-62809287	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs187808659	chr11:62809314-62809315	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs544256167	chr11:62809329-62809330	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs368039722	chr11:62809342-62809343	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs192193097	chr11:62809406-62809407	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs7130180	chr11:62809415-62809416	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs183355259	chr11:62809426-62809427	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs559574632	chr11:62809436-62809437	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs528364398	chr11:62809454-62809455	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs542160554	chr11:62809470-62809471	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs542756622	chr11:62809486-62809487	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs530728186	chr11:62809495-62809496	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs550647741	chr11:62809521-62809522	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs376092478	chr11:62809528-62809529	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs559077093	chr11:62809534-62809535	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs528112079	chr11:62809540-62809541	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs117754076	chr11:62809541-62809542	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs546252319	chr11:62809558-62809559	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs186859858	chr11:62809592-62809593	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs143171613	chr11:62809613-62809614	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs192257447	chr11:62809647-62809648	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs569108372	chr11:62809672-62809673	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs184317310	chr11:62809688-62809689	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs558214642	chr11:62809700-62809701	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs10897319	chr11:62809706-62809707	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs534320542	chr11:62809784-62809785	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs554172717	chr11:62809788-62809789	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs574091595	chr11:62809796-62809797	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs189429670	chr11:62809804-62809805	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs111348144	chr11:62809842-62809843	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs193236211	chr11:62809855-62809856	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs567962094	chr11:62809885-62809886	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs112348901	chr11:62809886-62809887	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs546686122	chr11:62809890-62809891	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs185414845	chr11:62809956-62809957	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs528905446	chr11:62809957-62809958	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs549259172	chr11:62809968-62809969	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs112461427	chr11:62809969-62809970	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs189532804	chr11:62809970-62809971	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs538410868	chr11:62809973-62809974	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs141235770	chr11:62809986-62809987	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs147484019	chr11:62809990-62809991	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs374163942	chr11:62810000-62810001	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs139974625	chr11:62810009-62810010	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs574079294	chr11:62810010-62810011	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs562164265	chr11:62810134-62810135	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs9971529	chr11:62810199-62810200	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs570276780	chr11:62810213-62810214	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs369775313	chr11:62810247-62810248	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs552059211	chr11:62810296-62810297	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Acute myeloid leukemia	20729466	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
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20409316	CNVD
Spinal muscular atrophy	17160897	CNVD
Retinitis pigmentosa	17160897	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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