Variant report

Variant	esv3327683
Chromosome Location	chr11:56259980-56268248
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:123)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr11:56267551-56267744	GM12878	blood:	n/a	n/a
2	NR2F2	chr11:56265096-56265541	K562	blood:	n/a	n/a
3	PAX5	chr11:56264183-56264371	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:56266364-56266377	ProgFib	skin:	n/a	n/a
5	POLR2A	chr11:56266251-56266274	MCF-7	breast:	n/a	n/a
6	POLR2A	chr11:56266182-56266205	MCF-7	breast:	n/a	n/a
7	POLR2A	chr11:56266214-56266244	MCF-7	breast:	n/a	n/a
8	POLR2A	chr11:56263718-56263747	GM12878	blood:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:56264782-56264832	T-47D	breast:	n/a
2	chr11:56264782-56264832	T-47D	breast:	n/a
3	chr11:56264782-56264832	HRE	kidney:	n/a
4	chr11:56264782-56264832	HCT-116	colon:	n/a
5	chr11:56264637-56264687	HRCEpiC	kidney:	n/a
6	chr11:56264782-56264832	PANC-1	pancreas:	n/a
7	chr11:56264637-56264687	AG10803	skin:	n/a
8	chr11:56264637-56264687	AG04450	lung:	fetal
9	chr11:56264782-56264832	NT2-D1	testis:	n/a
10	chr11:56264782-56264832	HIPEpiC	eye:	n/a
11	chr11:56264637-56264687	GM12892	blood:	n/a
12	chr11:56264637-56264687	NHDF-neo	bronchial:	n/a
13	chr11:56264637-56264687	ovcar-3	ovarian:	n/a
14	chr11:56264782-56264832	U87	brain:	n/a
15	chr11:56264782-56264832	ovcar-3	ovarian:	n/a
16	chr11:56264637-56264687	ECC-1	luminal epithelium:	n/a
17	chr11:56264637-56264687	T-47D	breast:	n/a
18	chr11:56264782-56264832	HPAEpiC	pulmonary alveolar:	n/a
19	chr11:56264782-56264832	HEEpiC	esophagus:	n/a
20	chr11:56264637-56264687	K562	blood:	n/a
21	chr11:56264782-56264832	AoSMC	blood vessel:	n/a
22	chr11:56264637-56264687	AG09319	gingival:	n/a
23	chr11:56264782-56264832	BE2_C	brain:	n/a
24	chr11:56264782-56264832	BJ	skin:	n/a
25	chr11:56264782-56264832	HMEC	breast:	n/a
26	chr11:56264782-56264832	Hela-S3	cervix:	n/a
27	chr11:56264637-56264687	PrEC	prostate:	n/a
28	chr11:56264782-56264832	HNPCEpiC	eye:	n/a
29	chr11:56264637-56264687	BJ	skin:	n/a
30	chr11:56264782-56264832	PFSK-1	brain:	n/a
31	chr11:56264782-56264832	HUVEC	blood vessel:	n/a
32	chr11:56264782-56264832	AG09309	skin:	n/a
33	chr11:56264782-56264832	ProgFib	skin:	n/a
34	chr11:56264637-56264687	NT2-D1	testis:	n/a
35	chr11:56264782-56264832	GM12878	blood:	n/a
36	chr11:56264637-56264687	GM12891	blood:	n/a
37	chr11:56264782-56264832	NHBE	bronchial:	n/a
38	chr11:56264637-56264687	HAEpiC	amniotic membrane:	n/a
39	chr11:56264637-56264687	Jurkat	blood:	n/a
40	chr11:56264637-56264687	PANC-1	pancreas:	n/a
41	chr11:56264782-56264832	AG10803	skin:	n/a
42	chr11:56264782-56264832	HRPEpiC	eye:	n/a
43	chr11:56264782-56264832	Hepatocyte	liver:	n/a
44	chr11:56264782-56264832	AG04449	skin:	fetal
45	chr11:56264782-56264832	GM12892	blood:	n/a
46	chr11:56264637-56264687	SKMC	muscle:	n/a
47	chr11:56264782-56264832	CMK	blood:	n/a
48	chr11:56264782-56264832	K562	blood:	n/a
49	chr11:56264782-56264832	ECC-1	luminal epithelium:	n/a
50	chr11:56264637-56264687	SK-N-SH	brain:	n/a

No data

Variant related genes	Relation type
OR5M8	TF binding region
ENSG00000254411	TF binding region
OR5M8	CpG island
ENSG00000254411	CpG island

Extended variants
information (count: 139 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113808856	chr11:56260410-56260411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs578129123	chr11:56260438-56260439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545566376	chr11:56260448-56260449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149797220	chr11:56260464-56260465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188250373	chr11:56260478-56260479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116442453	chr11:56260487-56260488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561799279	chr11:56260565-56260566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs659254	chr11:56260569-56260570	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs182032107	chr11:56260579-56260580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568755779	chr11:56260602-56260603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144799891	chr11:56260634-56260635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs669453	chr11:56260651-56260652	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs669501	chr11:56260689-56260690	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533529290	chr11:56260696-56260697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12275486	chr11:56260743-56260744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544595640	chr11:56260768-56260769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567849270	chr11:56260786-56260787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139676726	chr11:56260799-56260800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12275537	chr11:56260819-56260820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114923923	chr11:56260820-56260821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545621538	chr11:56260822-56260823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190726272	chr11:56260845-56260846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550806816	chr11:56260860-56260861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542638673	chr11:56260895-56260896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561360986	chr11:56260907-56260908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs55866222	chr11:56260943-56260944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2511145	chr11:56260962-56260963	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552880256	chr11:56260978-56260979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144522301	chr11:56261077-56261078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562449872	chr11:56261142-56261143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34005259	chr11:56261171-56261172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542118596	chr11:56261179-56261180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532917401	chr11:56261181-56261182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551185225	chr11:56261248-56261249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572725868	chr11:56261329-56261330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546989984	chr11:56261344-56261345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527416872	chr11:56261363-56261364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548680832	chr11:56261400-56261401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534764810	chr11:56261469-56261470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183303554	chr11:56261483-56261484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs610822	chr11:56261538-56261539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs577573166	chr11:56261548-56261549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs644381	chr11:56261550-56261551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs377626917	chr11:56261585-56261586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186602413	chr11:56261593-56261594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143478077	chr11:56261680-56261681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554378596	chr11:56261687-56261688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78779587	chr11:56261705-56261706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552779882	chr11:56261732-56261733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536797946	chr11:56261741-56261742	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

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
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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56260400-56261200	Enhancers	Fetal Brain Male	brain
2	chr11:56261200-56261600	Weak transcription	Fetal Brain Male	brain
3	chr11:56261600-56261800	Enhancers	Fetal Brain Male	brain
4	chr11:56261800-56263200	Weak transcription	Fetal Brain Male	brain
5	chr11:56263200-56263600	Enhancers	Fetal Brain Male	brain

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