Variant report

Variant	esv3400070
Chromosome Location	chr11:59245677-59259456
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	BACH1	chr11:59252103-59252164	K562	blood:	n/a	n/a
2	CEBPB	chr11:59247412-59247739	HepG2	liver:	n/a	chr11:59247562-59247573
3	CEBPB	chr11:59247434-59247639	A549	lung:	n/a	chr11:59247562-59247573
4	CEBPB	chr11:59249912-59250088	IMR90	lung:	n/a	n/a
5	CEBPB	chr11:59249929-59250051	A549	lung:	n/a	n/a
6	CEBPB	chr11:59247438-59247672	Hela-S3	cervix:	n/a	chr11:59247562-59247573
7	CTCF	chr11:59251062-59251130	GM20000	blood:	n/a	n/a
8	CTCF	chr11:59245613-59245679	ProgFib	skin:	n/a	n/a
9	E2F4	chr11:59247369-59247649	MCF10A-Er-Src	breast:	n/a	n/a
10	IRF1	chr11:59258129-59258308	K562	blood:	n/a	n/a
11	JUN	chr11:59258529-59258534	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:59247404-59247448	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr11:59258625-59258766	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr11:59250039-59250081	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr11:59245671-59245681	A549	lung:	n/a	n/a
16	POLR2A	chr11:59249539-59249608	Gliobla	brain:	n/a	n/a
17	STAT3	chr11:59251550-59251608	MCF10A-Er-Src	breast:	n/a	n/a
18	ZNF274	chr11:59245968-59246454	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:59252907..59254795-chr11:59256449..59259099,2	K562	blood:
2	chr11:59252907..59254795-chr11:59256449..59259099,2	K562	blood:
3	chr11:59249101..59250760-chr11:59252215..59254490,2	K562	blood:
4	chr11:59252180..59254795-chr11:59256449..59259540,4	K562	blood:
5	chr11:59249101..59250760-chr11:59252215..59254490,2	K562	blood:

Variant related genes	Relation type
OR4D8P	TF binding region
ENSG00000204989	chromatin interactions

Extended variants
information (count: 166 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571309353	chr11:59245699-59245700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73482817	chr11:59245709-59245710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370928802	chr11:59245718-59245719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554025037	chr11:59245791-59245792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373793945	chr11:59245801-59245802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371754763	chr11:59245812-59245813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200783661	chr11:59245838-59245839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372132001	chr11:59245904-59245905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565882248	chr11:59245912-59245913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536421433	chr11:59246011-59246012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371466075	chr11:59246048-59246049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112625857	chr11:59246246-59246247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377410200	chr11:59246286-59246287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190622286	chr11:59246302-59246303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183235256	chr11:59246312-59246313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534371050	chr11:59246318-59246319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558549853	chr11:59246368-59246369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186277098	chr11:59246375-59246376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540719089	chr11:59246392-59246393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374779831	chr11:59246408-59246409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560820439	chr11:59246436-59246437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572685592	chr11:59246458-59246459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543172594	chr11:59246519-59246520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551362511	chr11:59246532-59246533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138635189	chr11:59246539-59246540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs61419052	chr11:59246551-59246552	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs537373522	chr11:59246604-59246605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565077663	chr11:59246761-59246762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79753364	chr11:59246803-59246804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530236198	chr11:59246806-59246807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547502560	chr11:59246852-59246853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149331052	chr11:59246892-59246893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190631140	chr11:59246918-59246919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548374970	chr11:59246962-59246963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182920712	chr11:59246969-59246970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537284848	chr11:59247017-59247018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558685341	chr11:59247075-59247076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187876476	chr11:59247096-59247097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146236163	chr11:59247103-59247104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534598845	chr11:59247116-59247117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552710643	chr11:59247143-59247144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572672453	chr11:59247159-59247160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573533100	chr11:59247197-59247198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72923391	chr11:59247212-59247213	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs555487855	chr11:59247252-59247253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192871996	chr11:59247277-59247278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543654569	chr11:59247316-59247317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572506027	chr11:59247356-59247357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567036509	chr11:59247363-59247364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565016294	chr11:59247417-59247418	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59243400-59246800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr11:59246400-59246800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr11:59246800-59248200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:59258000-59258400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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