Variant report

Variant	esv3335948
Chromosome Location	chr11:56262175-56271957
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:124)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 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	chr11:56263718-56263747	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:56266182-56266205	MCF-7	breast:	n/a	n/a
6	POLR2A	chr11:56266364-56266377	ProgFib	skin:	n/a	n/a
7	POLR2A	chr11:56268274-56268297	A549	lung:	n/a	n/a
8	POLR2A	chr11:56266251-56266274	MCF-7	breast:	n/a	n/a
9	POLR2A	chr11:56266214-56266244	MCF-7	breast:	n/a	n/a
10	SPI1	chr11:56270481-56270629	K562	blood:	n/a	n/a

(count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:56264782-56264832	NB4	blood:	n/a
2	chr11:56264637-56264687	GM12891	blood:	n/a
3	chr11:56264782-56264832	NB4	blood:	n/a
4	chr11:56264637-56264687	GM12891	blood:	n/a
5	chr11:56264782-56264832	HEK293	kidney:	embryo
6	chr11:56264637-56264687	K562	blood:	n/a
7	chr11:56264637-56264687	HCT-116	colon:	n/a
8	chr11:56264782-56264832	HIPEpiC	eye:	n/a
9	chr11:56264637-56264687	NH-A	brain:	n/a
10	chr11:56264782-56264832	PrEC	prostate:	n/a
11	chr11:56264782-56264832	AG09319	gingival:	n/a
12	chr11:56264782-56264832	SAEC	small airway:	n/a
13	chr11:56264637-56264687	ProgFib	skin:	n/a
14	chr11:56264637-56264687	Hela-S3	cervix:	n/a
15	chr11:56264637-56264687	LNCaP	prostate:	n/a
16	chr11:56264637-56264687	IMR90	lung:	fetal
17	chr11:56264782-56264832	AG09309	skin:	n/a
18	chr11:56264782-56264832	Jurkat	blood:	n/a
19	chr11:56264782-56264832	HAEpiC	amniotic membrane:	n/a
20	chr11:56264637-56264687	HPAEpiC	pulmonary alveolar:	n/a
21	chr11:56264637-56264687	CMK	blood:	n/a
22	chr11:56264637-56264687	GM12878	blood:	n/a
23	chr11:56264637-56264687	HIPEpiC	eye:	n/a
24	chr11:56264637-56264687	RPTEC	kidney:	n/a
25	chr11:56264637-56264687	NT2-D1	testis:	n/a
26	chr11:56264637-56264687	BJ	skin:	n/a
27	chr11:56264637-56264687	HepG2	liver:	n/a
28	chr11:56264782-56264832	AG04449	skin:	fetal
29	chr11:56264782-56264832	HepG2	liver:	n/a
30	chr11:56264782-56264832	HL-60	blood:	n/a
31	chr11:56264637-56264687	ovcar-3	ovarian:	n/a
32	chr11:56264782-56264832	ovcar-3	ovarian:	n/a
33	chr11:56264782-56264832	NH-A	brain:	n/a
34	chr11:56264782-56264832	MCF-7	breast:	n/a
35	chr11:56264637-56264687	SKMC	muscle:	n/a
36	chr11:56264782-56264832	Hela-S3	cervix:	n/a
37	chr11:56264782-56264832	GM06990	blood:	n/a
38	chr11:56264637-56264687	AG04450	lung:	fetal
39	chr11:56264637-56264687	PFSK-1	brain:	n/a
40	chr11:56264782-56264832	IMR90	lung:	fetal
41	chr11:56264637-56264687	ECC-1	luminal epithelium:	n/a
42	chr11:56264637-56264687	SK-N-SH	brain:	n/a
43	chr11:56264637-56264687	HL-60	blood:	n/a
44	chr11:56264782-56264832	HCT-116	colon:	n/a
45	chr11:56264637-56264687	A549	lung:	n/a
46	chr11:56264782-56264832	GM12891	blood:	n/a
47	chr11:56264782-56264832	MCF10A-Er-Src	breast:	n/a
48	chr11:56264782-56264832	SK-N-SH_RA	brain:	n/a
49	chr11:56264637-56264687	T-47D	breast:	n/a
50	chr11:56264782-56264832	NT2-D1	testis:	n/a

No data

Variant related genes	Relation type
OR5M7P	TF binding region
OR5M8	TF binding region
ENSG00000254411	TF binding region
OR5M7P	CpG island
OR5M8	CpG island
ENSG00000254411	CpG island

Extended variants
information (count: 176 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:176 , 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	rs191181216	chr11:56262182-56262183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374495025	chr11:56262197-56262198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558564388	chr11:56262216-56262217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577494398	chr11:56262236-56262237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545334678	chr11:56262246-56262247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560079648	chr11:56262286-56262287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572166046	chr11:56262310-56262311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564977708	chr11:56262373-56262374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542478528	chr11:56262411-56262412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183350098	chr11:56262416-56262417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56163075	chr11:56262468-56262469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs549779936	chr11:56262495-56262496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77077446	chr11:56262511-56262512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532843741	chr11:56262521-56262522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10896466	chr11:56262562-56262563	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs75570680	chr11:56262594-56262595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150110720	chr11:56262607-56262608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs137919345	chr11:56262707-56262708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548516885	chr11:56262723-56262724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567290731	chr11:56262741-56262742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75864533	chr11:56262745-56262746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569801578	chr11:56262787-56262788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537179795	chr11:56262866-56262867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558525746	chr11:56262942-56262943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570553520	chr11:56262955-56262956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370160442	chr11:56262994-56262995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113974944	chr11:56262997-56262998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138846037	chr11:56263002-56263003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111957463	chr11:56263011-56263012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572266561	chr11:56263023-56263024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112630402	chr11:56263028-56263029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542791400	chr11:56263031-56263032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531956158	chr11:56263057-56263058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554831312	chr11:56263081-56263082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141307940	chr11:56263098-56263099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs638436	chr11:56263112-56263113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs61902909	chr11:56263116-56263117	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs638452	chr11:56263118-56263119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs147011608	chr11:56263137-56263138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559965309	chr11:56263139-56263140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs655887	chr11:56263235-56263236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs655886	chr11:56263237-56263238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530364672	chr11:56263261-56263262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs655821	chr11:56263275-56263276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548743929	chr11:56263307-56263308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569962808	chr11:56263335-56263336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530903596	chr11:56263362-56263363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552212674	chr11:56263386-56263387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570615411	chr11:56263392-56263393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534982627	chr11:56263410-56263411	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	chr11:56261800-56263200	Weak transcription	Fetal Brain Male	brain
2	chr11:56263200-56263600	Enhancers	Fetal Brain Male	brain
3	chr11:56269400-56271000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr11:56271200-56271800	Enhancers	Fetal Brain Male	brain
5	chr11:56271800-56273000	Weak transcription	Fetal Brain Male	brain

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