Variant report

Variant	nsv975924
Chromosome Location	chr11:55741474-55751535
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:55749566-55749730	K562	blood:	n/a	n/a
2	CEBPB	chr11:55741577-55741777	HepG2	liver:	n/a	chr11:55741709-55741720
3	EP300	chr11:55743887-55744079	K562	blood:	n/a	n/a
4	GATA2	chr11:55751148-55751408	SH-SY5Y	brain:	n/a	chr11:55751194-55751210 chr11:55751194-55751210 chr11:55751198-55751205 chr11:55751191-55751212 chr11:55751198-55751205 chr11:55751198-55751205 chr11:55751197-55751207
5	GATA3	chr11:55751213-55751494	SH-SY5Y	brain:	n/a	n/a
6	POLR2A	chr11:55746322-55746356	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr11:55745385-55745585	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55749739-55749789	CMK	blood:	n/a
2	chr11:55749739-55749789	HAEpiC	amniotic membrane:	n/a
3	chr11:55749739-55749789	AG09319	gingival:	n/a
4	chr11:55749739-55749789	HCT-116	colon:	n/a
5	chr11:55749739-55749789	HCF	heart:	n/a
6	chr11:55749739-55749789	H1-hESC	embryonic stem cell:	embryo
7	chr11:55749739-55749789	SK-N-MC	brain:	n/a
8	chr11:55749739-55749789	HCPEpiC	choroid plexus:	n/a
9	chr11:55749739-55749789	SK-N-SH	brain:	n/a
10	chr11:55749739-55749789	HRPEpiC	eye:	n/a
11	chr11:55749739-55749789	HIPEpiC	eye:	n/a
12	chr11:55749739-55749789	K562	blood:	n/a
13	chr11:55749739-55749789	GM12892	blood:	n/a
14	chr11:55749739-55749789	LNCaP	prostate:	n/a
15	chr11:55749739-55749789	PrEC	prostate:	n/a
16	chr11:55749739-55749789	HRCEpiC	kidney:	n/a
17	chr11:55749739-55749789	Hela-S3	cervix:	n/a
18	chr11:55749739-55749789	HEEpiC	esophagus:	n/a
19	chr11:55749739-55749789	MCF10A-Er-Src	breast:	n/a
20	chr11:55749739-55749789	NHBE	bronchial:	n/a
21	chr11:55749739-55749789	GM12891	blood:	n/a
22	chr11:55749739-55749789	Jurkat	blood:	n/a
23	chr11:55749739-55749789	NH-A	brain:	n/a
24	chr11:55749739-55749789	SAEC	small airway:	n/a
25	chr11:55749739-55749789	BJ	skin:	n/a
26	chr11:55749739-55749789	AG09309	skin:	n/a
27	chr11:55749739-55749789	SK-N-SH_RA	brain:	n/a
28	chr11:55749739-55749789	AG04449	skin:	fetal
29	chr11:55749739-55749789	PANC-1	pancreas:	n/a
30	chr11:55749739-55749789	ovcar-3	ovarian:	n/a
31	chr11:55749739-55749789	AG10803	skin:	n/a
32	chr11:55749739-55749789	Caco-2	colon:	n/a
33	chr11:55749739-55749789	HUVEC	blood vessel:	n/a
34	chr11:55749739-55749789	AoSMC	blood vessel:	n/a
35	chr11:55749739-55749789	GM19239	blood:	n/a
36	chr11:55749739-55749789	RPTEC	kidney:	n/a
37	chr11:55749739-55749789	HMEC	breast:	n/a
38	chr11:55749739-55749789	NHDF-neo	bronchial:	n/a
39	chr11:55749739-55749789	U87	brain:	n/a
40	chr11:55749739-55749789	HRE	kidney:	n/a
41	chr11:55749739-55749789	ProgFib	skin:	n/a
42	chr11:55749739-55749789	HNPCEpiC	eye:	n/a
43	chr11:55749739-55749789	HCM	heart:	n/a
44	chr11:55749739-55749789	HPAEpiC	pulmonary alveolar:	n/a
45	chr11:55749739-55749789	NT2-D1	testis:	n/a
46	chr11:55749739-55749789	HEK293	kidney:	embryo
47	chr11:55749739-55749789	GM12878	blood:	n/a
48	chr11:55749739-55749789	T-47D	breast:	n/a
49	chr11:55749739-55749789	MCF-7	breast:	n/a
50	chr11:55749739-55749789	SKMC	muscle:	n/a

No data

Variant related genes	Relation type
OR7E5P	TF binding region
OR7E5P	CpG island

Extended variants
information (count: 458 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540920853	chr11:55741475-55741476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555324511	chr11:55741482-55741483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs5791971	chr11:55741483-55741484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555887265	chr11:55741494-55741495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559935978	chr11:55741511-55741512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79525829	chr11:55741537-55741538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143284088	chr11:55741559-55741560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543651610	chr11:55741592-55741593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76105049	chr11:55741595-55741596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7122038	chr11:55741619-55741620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7122142	chr11:55741637-55741638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147543431	chr11:55741699-55741700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61051008	chr11:55741739-55741740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561407427	chr11:55741748-55741749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561916647	chr11:55741753-55741754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140280768	chr11:55741774-55741775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550193470	chr11:55741838-55741839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565379609	chr11:55741861-55741862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143518650	chr11:55741872-55741873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532607821	chr11:55741977-55741978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551626466	chr11:55742089-55742090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61896183	chr11:55742104-55742105	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs533735008	chr11:55742145-55742146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549302813	chr11:55742182-55742183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61896184	chr11:55742185-55742186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs140802002	chr11:55742197-55742198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61896234	chr11:55742198-55742199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537851819	chr11:55742225-55742226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555701185	chr11:55742235-55742236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138648078	chr11:55742253-55742254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12273182	chr11:55742259-55742260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs538318355	chr11:55742268-55742269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201557092	chr11:55742277-55742278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61896235	chr11:55742289-55742290	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs61896236	chr11:55742424-55742425	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs117298249	chr11:55742435-55742436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185378965	chr11:55742485-55742486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576609490	chr11:55742491-55742492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543845688	chr11:55742520-55742521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs36070669	chr11:55742532-55742533	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs61896237	chr11:55742589-55742590	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs547947998	chr11:55742593-55742594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559585878	chr11:55742594-55742595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11231725	chr11:55742653-55742654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190231025	chr11:55742665-55742666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560062359	chr11:55742727-55742728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529198896	chr11:55742748-55742749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61896238	chr11:55742754-55742755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs554791101	chr11:55742778-55742779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549385444	chr11:55742792-55742793	Weak transcription	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
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
Schizophrenia	20967226	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55741200-55742000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr11:55741400-55746000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr11:55742000-55742400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr11:55742400-55742600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr11:55742600-55745600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:55745600-55747000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr11:55745800-55747000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr11:55746000-55746800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr11:55746000-55746800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr11:55746000-55746800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr11:55746200-55747200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr11:55746200-55747400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr11:55746600-55747400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:55746800-55747400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:55747400-55753000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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