Variant report

Variant	nsv982950
Chromosome Location	chr11:56543432-56546447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:56545897-56545901	A549	lung:	n/a	n/a
2	JUN	chr11:56544110-56544142	H1-hESC	embryonic stem cell:	n/a	n/a
3	JUN	chr11:56544671-56544690	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:56545039-56545089	HCF	heart:	n/a
2	chr11:56545039-56545089	HUVEC	blood vessel:	n/a
3	chr11:56545039-56545089	RPTEC	kidney:	n/a
4	chr11:56545039-56545089	Hela-S3	cervix:	n/a
5	chr11:56545039-56545089	BE2_C	brain:	n/a
6	chr11:56545039-56545089	A549	lung:	n/a
7	chr11:56545039-56545089	CMK	blood:	n/a
8	chr11:56545039-56545089	U87	brain:	n/a
9	chr11:56545039-56545089	GM06990	blood:	n/a
10	chr11:56545039-56545089	GM12891	blood:	n/a
11	chr11:56545039-56545089	AG09319	gingival:	n/a
12	chr11:56545039-56545089	NT2-D1	testis:	n/a
13	chr11:56545039-56545089	AG10803	skin:	n/a
14	chr11:56545039-56545089	NHDF-neo	bronchial:	n/a
15	chr11:56545039-56545089	AG04450	lung:	fetal
16	chr11:56545039-56545089	MCF10A-Er-Src	breast:	n/a
17	chr11:56545039-56545089	LNCaP	prostate:	n/a
18	chr11:56545039-56545089	SK-N-SH	brain:	n/a
19	chr11:56545039-56545089	HMEC	breast:	n/a
20	chr11:56545039-56545089	IMR90	lung:	fetal
21	chr11:56545039-56545089	ECC-1	luminal epithelium:	n/a
22	chr11:56545039-56545089	HIPEpiC	eye:	n/a
23	chr11:56545039-56545089	PANC-1	pancreas:	n/a
24	chr11:56545039-56545089	Jurkat	blood:	n/a
25	chr11:56545039-56545089	Caco-2	colon:	n/a
26	chr11:56545039-56545089	HEEpiC	esophagus:	n/a
27	chr11:56545039-56545089	AoSMC	blood vessel:	n/a
28	chr11:56545039-56545089	ovcar-3	ovarian:	n/a
29	chr11:56545039-56545089	SK-N-MC	brain:	n/a
30	chr11:56545039-56545089	HCM	heart:	n/a
31	chr11:56545039-56545089	GM12892	blood:	n/a
32	chr11:56545039-56545089	K562	blood:	n/a
33	chr11:56545039-56545089	GM12878	blood:	n/a
34	chr11:56545039-56545089	T-47D	breast:	n/a
35	chr11:56545039-56545089	Hepatocyte	liver:	n/a
36	chr11:56545039-56545089	HCPEpiC	choroid plexus:	n/a
37	chr11:56545039-56545089	AG09309	skin:	n/a
38	chr11:56545039-56545089	HPAEpiC	pulmonary alveolar:	n/a
39	chr11:56545039-56545089	H1-hESC	embryonic stem cell:	embryo
40	chr11:56545039-56545089	BJ	skin:	n/a
41	chr11:56545039-56545089	HCT-116	colon:	n/a
42	chr11:56545039-56545089	AG04449	skin:	fetal
43	chr11:56545039-56545089	NHBE	bronchial:	n/a
44	chr11:56545039-56545089	HL-60	blood:	n/a
45	chr11:56545039-56545089	NH-A	brain:	n/a
46	chr11:56545039-56545089	SAEC	small airway:	n/a
47	chr11:56545039-56545089	HAEpiC	amniotic membrane:	n/a
48	chr11:56545039-56545089	PrEC	prostate:	n/a
49	chr11:56545039-56545089	GM19239	blood:	n/a
50	chr11:56545039-56545089	HRPEpiC	eye:	n/a

No data

Variant related genes	Relation type
OR5G1P	TF binding region
OR5G1P	CpG island

Extended variants
information (count: 94 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12416731	chr11:56543612-56543613	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547537034	chr11:56543658-56543659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139577449	chr11:56543690-56543691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576131949	chr11:56543702-56543703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368215398	chr11:56543736-56543737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187802053	chr11:56543748-56543749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs61902517	chr11:56543773-56543774	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs532808914	chr11:56543779-56543780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150302709	chr11:56543823-56543824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559675174	chr11:56543892-56543893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530240433	chr11:56544006-56544007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548414835	chr11:56544007-56544008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1015195	chr11:56544017-56544018	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs192331662	chr11:56544073-56544074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552104212	chr11:56544100-56544101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560033914	chr11:56544176-56544177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571252882	chr11:56544211-56544212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538548670	chr11:56544225-56544226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553969448	chr11:56544293-56544294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565718608	chr11:56544295-56544296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184489436	chr11:56544299-56544300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565834207	chr11:56544309-56544310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188702932	chr11:56544324-56544325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192815204	chr11:56544333-56544334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199673407	chr11:56544387-56544388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147571564	chr11:56544421-56544422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141939018	chr11:56544434-56544435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577644254	chr11:56544517-56544518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12786794	chr11:56544584-56544585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs77806888	chr11:56544672-56544673	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs77981034	chr11:56544689-56544690	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs184420528	chr11:56544704-56544705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34055124	chr11:56544727-56544728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs518385	chr11:56544745-56544746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs12787988	chr11:56544761-56544762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs56255728	chr11:56544766-56544767	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs34699801	chr11:56544768-56544769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570498700	chr11:56544795-56544796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138717667	chr11:56544819-56544820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547397137	chr11:56544881-56544882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374565757	chr11:56544898-56544899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548402459	chr11:56544915-56544916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148879732	chr11:56544924-56544925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372169319	chr11:56544950-56544951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536069667	chr11:56544958-56544959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143527035	chr11:56544976-56544977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569816885	chr11:56545012-56545013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537136343	chr11:56545045-56545046	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs558611971	chr11:56545080-56545081	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs576782263	chr11:56545102-56545103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
T-cell prolymphocytic leukemia	19278963	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56543600-56544200	Enhancers	Fetal Intestine Small	intestine
2	chr11:56543800-56544400	Enhancers	Fetal Intestine Large	intestine
3	chr11:56544200-56545200	Weak transcription	Fetal Intestine Small	intestine
4	chr11:56544400-56544800	Weak transcription	Fetal Intestine Large	intestine
5	chr11:56544800-56545200	Enhancers	Fetal Intestine Large	intestine
6	chr11:56545200-56545400	Enhancers	Fetal Intestine Small	intestine
7	chr11:56545200-56546200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr11:56545400-56546200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr11:56545600-56546200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr11:56546200-56550200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:56546200-56550600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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