Variant report

Variant	esv3379598
Chromosome Location	chr11:56020228-56043618
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:184)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:56043042-56043185	K562	blood:	n/a	n/a
2	CTCF	chr11:56038545-56038609	Pancreas_OC	pancreas:	n/a	n/a
3	CTCF	chr11:56035842-56035886	LNCaP	prostate:	n/a	n/a
4	CTCF	chr11:56032960-56033110	Caco-2	colon:	n/a	n/a
5	E2F4	chr11:56023417-56023580	MCF10A-Er-Src	breast:	n/a	n/a
6	FAM48A	chr11:56022981-56023065	GM12878	blood:	n/a	n/a
7	JUN	chr11:56020518-56020678	HepG2	liver:	n/a	chr11:56020573-56020586
8	JUND	chr11:56020457-56020657	HepG2	liver:	n/a	n/a
9	MAFF	chr11:56034039-56034239	HepG2	liver:	n/a	n/a
10	MAFK	chr11:56034002-56034227	HepG2	liver:	n/a	chr11:56034107-56034122
11	MAFK	chr11:56034028-56034217	HepG2	liver:	n/a	chr11:56034107-56034122
12	MAFK	chr11:56042214-56042415	HepG2	liver:	n/a	n/a
13	MAFK	chr11:56038267-56038392	HepG2	liver:	n/a	chr11:56038332-56038348 chr11:56038332-56038347 chr11:56038335-56038349
14	POLR2A	chr11:56028150-56028220	A549	lung:	n/a	n/a
15	POLR2A	chr11:56028045-56028140	A549	lung:	n/a	n/a
16	POLR2A	chr11:56023085-56023240	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:56025644-56025897	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:56020705-56020839	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr11:56021115-56021315	MCF10A-Er-Src	breast:	n/a	n/a
20	SIX5	chr11:56038534-56039004	H1-hESC	embryonic stem cell:	n/a	chr11:56038779-56038788 chr11:56038776-56038790 chr11:56038777-56038786
21	SIX5	chr11:56038598-56038938	H1-hESC	embryonic stem cell:	n/a	chr11:56038779-56038788 chr11:56038776-56038790 chr11:56038777-56038786
22	STAT3	chr11:56042871-56043070	MCF10A-Er-Src	breast:	n/a	n/a
23	ZNF143	chr11:56038560-56038962	H1-hESC	embryonic stem cell:	n/a	chr11:56038777-56038786 chr11:56038779-56038788 chr11:56038770-56038788
24	ZNF143	chr11:56038597-56038796	Hela-S3	cervix:	n/a	chr11:56038777-56038786 chr11:56038779-56038788 chr11:56038770-56038788

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:56043040-56043090	NHBE	bronchial:	n/a
2	chr11:56043040-56043090	NHBE	bronchial:	n/a
3	chr11:56020533-56020583	GM06990	blood:	n/a
4	chr11:56043514-56043564	NB4	blood:	n/a
5	chr11:56020533-56020583	HAEpiC	amniotic membrane:	n/a
6	chr11:56020533-56020583	AG09309	skin:	n/a
7	chr11:56020533-56020583	Caco-2	colon:	n/a
8	chr11:56043514-56043564	GM12878	blood:	n/a
9	chr11:56043040-56043090	Hela-S3	cervix:	n/a
10	chr11:56043040-56043090	NT2-D1	testis:	n/a
11	chr11:56043040-56043090	MCF-7	breast:	n/a
12	chr11:56043514-56043564	AG09319	gingival:	n/a
13	chr11:56043514-56043564	HRE	kidney:	n/a
14	chr11:56043514-56043564	GM06990	blood:	n/a
15	chr11:56043514-56043564	RPTEC	kidney:	n/a
16	chr11:56043040-56043090	ProgFib	skin:	n/a
17	chr11:56043040-56043090	AG09319	gingival:	n/a
18	chr11:56043514-56043564	AG10803	skin:	n/a
19	chr11:56020533-56020583	H1-hESC	embryonic stem cell:	embryo
20	chr11:56043040-56043090	AG04449	skin:	fetal
21	chr11:56020533-56020583	GM12892	blood:	n/a
22	chr11:56043514-56043564	ovcar-3	ovarian:	n/a
23	chr11:56043040-56043090	GM12892	blood:	n/a
24	chr11:56043040-56043090	RPTEC	kidney:	n/a
25	chr11:56043514-56043564	U87	brain:	n/a
26	chr11:56043040-56043090	HL-60	blood:	n/a
27	chr11:56020533-56020583	GM19239	blood:	n/a
28	chr11:56020533-56020583	HEK293	kidney:	embryo
29	chr11:56043514-56043564	HEK293	kidney:	embryo
30	chr11:56043040-56043090	PrEC	prostate:	n/a
31	chr11:56043514-56043564	HMEC	breast:	n/a
32	chr11:56043040-56043090	T-47D	breast:	n/a
33	chr11:56020533-56020583	HUVEC	blood vessel:	n/a
34	chr11:56020533-56020583	HRPEpiC	eye:	n/a
35	chr11:56043514-56043564	HCPEpiC	choroid plexus:	n/a
36	chr11:56020533-56020583	CMK	blood:	n/a
37	chr11:56043040-56043090	PANC-1	pancreas:	n/a
38	chr11:56020533-56020583	HL-60	blood:	n/a
39	chr11:56043040-56043090	HMEC	breast:	n/a
40	chr11:56043514-56043564	NHDF-neo	bronchial:	n/a
41	chr11:56043040-56043090	HRE	kidney:	n/a
42	chr11:56043040-56043090	NB4	blood:	n/a
43	chr11:56043514-56043564	CMK	blood:	n/a
44	chr11:56043514-56043564	HIPEpiC	eye:	n/a
45	chr11:56020533-56020583	SK-N-SH	brain:	n/a
46	chr11:56043514-56043564	HCT-116	colon:	n/a
47	chr11:56043514-56043564	T-47D	breast:	n/a
48	chr11:56020533-56020583	HRCEpiC	kidney:	n/a
49	chr11:56043514-56043564	LNCaP	prostate:	n/a
50	chr11:56043040-56043090	SK-N-SH_RA	brain:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:56006842..56008897-chr11:56029755..56032217,2	MCF-7	breast:

No data

Variant related genes	Relation type
OR5T1	TF binding region
OR5T1	CpG island

Extended variants
information (count: 190 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:190 , 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	rs189707956	chr11:56021218-56021219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181172113	chr11:56021222-56021223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536109050	chr11:56021234-56021235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10501349	chr11:56021284-56021285	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs530641696	chr11:56021358-56021359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575934382	chr11:56021360-56021361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546057999	chr11:56021383-56021384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2035396	chr11:56021414-56021415	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs572967366	chr11:56021426-56021427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540349519	chr11:56021474-56021475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561062750	chr11:56021536-56021537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72923507	chr11:56021558-56021559	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs186011412	chr11:56021576-56021577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563433911	chr11:56021585-56021586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533434552	chr11:56021632-56021633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572077638	chr11:56021644-56021645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552073351	chr11:56021652-56021653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2035397	chr11:56021701-56021702	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs545793093	chr11:56021737-56021738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534679301	chr11:56021773-56021774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2035398	chr11:56021787-56021788	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs75229655	chr11:56021789-56021790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144126382	chr11:56021830-56021831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546983092	chr11:56021837-56021838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114005805	chr11:56021844-56021845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551919288	chr11:56021853-56021854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143614487	chr11:56021867-56021868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375571865	chr11:56021871-56021872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376398794	chr11:56021872-56021873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575830762	chr11:56021890-56021891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537273389	chr11:56021907-56021908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1481928	chr11:56021934-56021935	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs72923508	chr11:56021946-56021947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557902577	chr11:56022010-56022011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573101528	chr11:56022013-56022014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540285937	chr11:56022081-56022082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199574097	chr11:56022101-56022102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34637322	chr11:56022105-56022106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555429860	chr11:56022121-56022122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573840778	chr11:56022138-56022139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544260903	chr11:56022162-56022163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562936711	chr11:56022163-56022164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77804987	chr11:56022183-56022184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372990104	chr11:56022187-56022188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547745475	chr11:56027010-56027011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs535296881	chr11:56027016-56027017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs116520647	chr11:56027045-56027046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs10160392	chr11:56027115-56027116	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs542036447	chr11:56027154-56027155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs1600813	chr11:56027171-56027172	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	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

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56021200-56022200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:56027000-56028400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:56027400-56027600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:56028200-56028400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:56028200-56028600	ZNF genes & repeats	Esophagus	oesophagus
6	chr11:56028600-56029000	Weak transcription	Esophagus	oesophagus
7	chr11:56036400-56036800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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