Variant report

Variant	esv3377817
Chromosome Location	chr11:55933159-55944833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:55937213-55937236	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr11:55939440-55939590	GM12865	blood:	n/a	n/a
3	E2F4	chr11:55933779-55933861	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr11:55939952-55939958	GM12878	blood:	n/a	n/a
5	IRF1	chr11:55941965-55942010	K562	blood:	n/a	n/a
6	MAFF	chr11:55939978-55940275	K562	blood:	n/a	n/a
7	MAFF	chr11:55939975-55940289	HepG2	liver:	n/a	n/a
8	MAFK	chr11:55939990-55940301	HepG2	liver:	n/a	chr11:55940143-55940154
9	MAFK	chr11:55940027-55940227	Hela-S3	cervix:	n/a	chr11:55940143-55940154
10	MAFK	chr11:55940058-55940239	H1-hESC	embryonic stem cell:	n/a	chr11:55940143-55940154
11	MAFK	chr11:55939972-55940310	HepG2	liver:	n/a	chr11:55940143-55940154
12	MAFK	chr11:55939990-55940314	IMR90	lung:	n/a	chr11:55940143-55940154
13	MXI1	chr11:55942043-55942050	GM12878	blood:	n/a	n/a
14	MYC	chr11:55937114-55937314	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr11:55940646-55940738	Gliobla	brain:	n/a	n/a
16	POLR2A	chr11:55942642-55942732	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr11:55944397-55944716	H1-neurons	neurons:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55944198-55944248	HepG2	liver:	n/a
2	chr11:55944198-55944248	PrEC	prostate:	n/a
3	chr11:55944198-55944248	HCM	heart:	n/a
4	chr11:55944198-55944248	SK-N-SH_RA	brain:	n/a
5	chr11:55944198-55944248	ovcar-3	ovarian:	n/a
6	chr11:55944198-55944248	LNCaP	prostate:	n/a
7	chr11:55944198-55944248	SKMC	muscle:	n/a
8	chr11:55944198-55944248	T-47D	breast:	n/a
9	chr11:55944198-55944248	BJ	skin:	n/a
10	chr11:55944198-55944248	HCPEpiC	choroid plexus:	n/a
11	chr11:55944198-55944248	GM06990	blood:	n/a
12	chr11:55944198-55944248	AG04450	lung:	fetal
13	chr11:55944198-55944248	AG04449	skin:	fetal
14	chr11:55944198-55944248	HUVEC	blood vessel:	n/a
15	chr11:55944198-55944248	HEK293	kidney:	embryo
16	chr11:55944198-55944248	HRE	kidney:	n/a
17	chr11:55944198-55944248	Caco-2	colon:	n/a
18	chr11:55944198-55944248	AG09319	gingival:	n/a
19	chr11:55944198-55944248	GM19239	blood:	n/a
20	chr11:55944198-55944248	Hepatocyte	liver:	n/a
21	chr11:55944198-55944248	HPAEpiC	pulmonary alveolar:	n/a
22	chr11:55944198-55944248	HMEC	breast:	n/a
23	chr11:55944198-55944248	MCF10A-Er-Src	breast:	n/a
24	chr11:55944198-55944248	SK-N-MC	brain:	n/a
25	chr11:55944198-55944248	AoSMC	blood vessel:	n/a
26	chr11:55944198-55944248	H1-hESC	embryonic stem cell:	embryo
27	chr11:55944198-55944248	NHBE	bronchial:	n/a
28	chr11:55944198-55944248	U87	brain:	n/a
29	chr11:55944198-55944248	ECC-1	luminal epithelium:	n/a
30	chr11:55944198-55944248	AG09309	skin:	n/a
31	chr11:55944198-55944248	HIPEpiC	eye:	n/a
32	chr11:55944198-55944248	ProgFib	skin:	n/a
33	chr11:55944198-55944248	CMK	blood:	n/a
34	chr11:55944198-55944248	NHDF-neo	bronchial:	n/a
35	chr11:55944198-55944248	HAEpiC	amniotic membrane:	n/a
36	chr11:55944198-55944248	HCT-116	colon:	n/a
37	chr11:55944198-55944248	GM12878	blood:	n/a
38	chr11:55944198-55944248	AG10803	skin:	n/a
39	chr11:55944198-55944248	K562	blood:	n/a
40	chr11:55944198-55944248	HNPCEpiC	eye:	n/a
41	chr11:55944198-55944248	HEEpiC	esophagus:	n/a
42	chr11:55944198-55944248	HL-60	blood:	n/a
43	chr11:55944198-55944248	GM12892	blood:	n/a
44	chr11:55944198-55944248	RPTEC	kidney:	n/a
45	chr11:55944198-55944248	PANC-1	pancreas:	n/a
46	chr11:55944198-55944248	NH-A	brain:	n/a
47	chr11:55944198-55944248	HRPEpiC	eye:	n/a
48	chr11:55944198-55944248	Hela-S3	cervix:	n/a
49	chr11:55944198-55944248	PFSK-1	brain:	n/a
50	chr11:55944198-55944248	NB4	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:55921059..55923391-chr11:55935211..55936757,2	K562	blood:

No data

Variant related genes	Relation type
OR5J2	TF binding region
OR5J2	CpG island

Extended variants
information (count: 68 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569892562	chr11:55939540-55939541	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs185007590	chr11:55939571-55939572	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs142921927	chr11:55939572-55939573	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs558841046	chr11:55939605-55939606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576918445	chr11:55939635-55939636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540994226	chr11:55939649-55939650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146165550	chr11:55939652-55939653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574452531	chr11:55939663-55939664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562624682	chr11:55939703-55939704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539330879	chr11:55939793-55939794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189124838	chr11:55939808-55939809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563900275	chr11:55939813-55939814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140173963	chr11:55939908-55939909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546094286	chr11:55939921-55939922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534150888	chr11:55939986-55939987	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs532392449	chr11:55939995-55939996	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs550935455	chr11:55940101-55940102	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs528486456	chr11:55940120-55940121	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs546564213	chr11:55940157-55940158	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs11289924	chr11:55940204-55940205	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs548398140	chr11:55940219-55940220	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs7102944	chr11:55940260-55940261	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs146414904	chr11:55940264-55940265	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs559157344	chr11:55940266-55940267	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs114960220	chr11:55940291-55940292	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs536804466	chr11:55940306-55940307	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs191595758	chr11:55940321-55940322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376524450	chr11:55940324-55940325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527630043	chr11:55940346-55940347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530626844	chr11:55940360-55940361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552989413	chr11:55940391-55940392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7114729	chr11:55940394-55940395	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs372777909	chr11:55940418-55940419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183779827	chr11:55940428-55940429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556736883	chr11:55940504-55940505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140786795	chr11:55940506-55940507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs80272341	chr11:55940530-55940531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368196735	chr11:55940532-55940533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200368212	chr11:55940547-55940548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570470791	chr11:55940563-55940564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11424222	chr11:55940564-55940565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564466396	chr11:55940567-55940568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs55906251	chr11:55940584-55940585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140135474	chr11:55940589-55940590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12292831	chr11:55940600-55940601	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs566826524	chr11:55940629-55940630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145565235	chr11:55940642-55940643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577128076	chr11:55940643-55940644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540269788	chr11:55940698-55940699	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs189299431	chr11:55940722-55940723	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55939400-55939800	Enhancers	Fetal Intestine Small	intestine
2	chr11:55939400-55940800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:55939400-55940800	Enhancers	Fetal Intestine Large	intestine
4	chr11:55939800-55940200	Enhancers	Brain Substantia Nigra	brain

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