Variant report

Variant	nsv976518
Chromosome Location	chr11:58247628-58271109
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:112)
CpG islands
(count:62)
Chromatin interactive
region (count:2)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:112 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:58252907-58253007	K562	blood:	n/a	n/a
2	ATF1	chr11:58270899-58270900	K562	blood:	n/a	n/a
3	ATF2	chr11:58271043-58271386	GM12878	blood:	n/a	n/a
4	BATF	chr11:58263493-58263751	GM12878	blood:	n/a	n/a
5	CEBPB	chr11:58261654-58261925	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr11:58261242-58261987	IMR90	lung:	n/a	n/a
7	CEBPB	chr11:58270845-58271165	IMR90	lung:	n/a	chr11:58270986-58271003
8	CTCF	chr11:58263593-58263743	GM19239	blood:	n/a	n/a
9	CTCF	chr11:58263600-58263750	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chr11:58263720-58263870	WI-38	lung:	n/a	n/a
11	CTCF	chr11:58263669-58263690	GM13976	blood:	n/a	n/a
12	CTCF	chr11:58263740-58263890	HFF-Myc	foreskin:	n/a	n/a
13	CTCF	chr11:58263540-58263690	AG09319	gingival:	n/a	n/a
14	CTCF	chr11:58263615-58263744	GM19240	blood:	n/a	n/a
15	CTCF	chr11:58260060-58260210	GM12866	blood:	n/a	n/a
16	CTCF	chr11:58263560-58263710	Caco-2	colon:	n/a	n/a
17	CTCF	chr11:58263580-58263730	A549	lung:	n/a	n/a
18	CTCF	chr11:58263560-58263710	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr11:58263629-58263703	Fibrobl	skin:	n/a	n/a
20	CTCF	chr11:58263580-58263730	GM12872	blood:	n/a	n/a
21	CTCF	chr11:58263660-58263810	HMF	breast:	n/a	n/a
22	CTCF	chr11:58263560-58263710	HMEC	breast:	n/a	n/a
23	CTCF	chr11:58263651-58263715	GM13977	blood:	n/a	n/a
24	CTCF	chr11:58263632-58263709	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr11:58263500-58263650	GM06990	blood:	n/a	n/a
26	CTCF	chr11:58263645-58263737	GM10248	blood:	n/a	n/a
27	CTCF	chr11:58263580-58263730	GM12878	blood:	n/a	n/a
28	CTCF	chr11:58263625-58263737	K562	blood:	n/a	n/a
29	CTCF	chr11:58263600-58263750	HMEC	breast:	n/a	n/a
30	CTCF	chr11:58263607-58263743	GM12892	blood:	n/a	n/a
31	CTCF	chr11:58263560-58263710	HepG2	liver:	n/a	n/a
32	CTCF	chr11:58263739-58263741	K562	blood:	n/a	n/a
33	CTCF	chr11:58263560-58263710	GM12871	blood:	n/a	n/a
34	CTCF	chr11:58263640-58263790	AG09319	gingival:	n/a	n/a
35	CTCF	chr11:58263613-58263744	IMR90	lung:	n/a	n/a
36	CTCF	chr11:58263620-58263770	HRE	kidney:	n/a	n/a
37	CTCF	chr11:58263640-58263790	AG04450	lung:	n/a	n/a
38	CTCF	chr11:58260160-58260310	GM12864	blood:	n/a	n/a
39	CTCF	chr11:58263620-58263770	AoAF	blood vessel:	n/a	n/a
40	CTCF	chr11:58263526-58263804	GM12878	blood:	n/a	n/a
41	CTCF	chr11:58263600-58263750	HEK293	kidney:	n/a	n/a
42	CTCF	chr11:58263660-58263810	AG04450	lung:	n/a	n/a
43	CTCF	chr11:58263580-58263730	NHDF-neo	bronchial:	n/a	n/a
44	CTCF	chr11:58263605-58263746	GM19238	blood:	n/a	n/a
45	CTCF	chr11:58263636-58263727	GM10266	blood:	n/a	n/a
46	CTCF	chr11:58263620-58263770	HRPEpiC	eye:	n/a	n/a
47	CTCF	chr11:58263637-58263749	GM12878	blood:	n/a	n/a
48	CTCF	chr11:58263600-58263750	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr11:58263560-58263710	GM12872	blood:	n/a	n/a
50	CUX1	chr11:58269516-58269565	K562	blood:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:58262000-58262050	HUVEC	blood vessel:	n/a
2	chr11:58262000-58262050	HUVEC	blood vessel:	n/a
3	chr11:58262000-58262050	SK-N-SH_RA	brain:	n/a
4	chr11:58262000-58262050	CMK	blood:	n/a
5	chr11:58262000-58262050	AG09319	gingival:	n/a
6	chr11:58262000-58262050	GM12892	blood:	n/a
7	chr11:58262000-58262050	ProgFib	skin:	n/a
8	chr11:58262000-58262050	IMR90	lung:	fetal
9	chr11:58262000-58262050	RPTEC	kidney:	n/a
10	chr11:58262000-58262050	Hepatocyte	liver:	n/a
11	chr11:58262000-58262050	GM19239	blood:	n/a
12	chr11:58262000-58262050	BJ	skin:	n/a
13	chr11:58262000-58262050	HEK293	kidney:	embryo
14	chr11:58262000-58262050	MCF-7	breast:	n/a
15	chr11:58262000-58262050	HCPEpiC	choroid plexus:	n/a
16	chr11:58262000-58262050	HRCEpiC	kidney:	n/a
17	chr11:58262000-58262050	AG04449	skin:	fetal
18	chr11:58262000-58262050	SKMC	muscle:	n/a
19	chr11:58262000-58262050	PANC-1	pancreas:	n/a
20	chr11:58262000-58262050	SAEC	small airway:	n/a
21	chr11:58262000-58262050	ECC-1	luminal epithelium:	n/a
22	chr11:58262000-58262050	GM12891	blood:	n/a
23	chr11:58262000-58262050	NT2-D1	testis:	n/a
24	chr11:58262000-58262050	U87	brain:	n/a
25	chr11:58262000-58262050	SK-N-MC	brain:	n/a
26	chr11:58262000-58262050	A549	lung:	n/a
27	chr11:58262000-58262050	HepG2	liver:	n/a
28	chr11:58262000-58262050	HCF	heart:	n/a
29	chr11:58262000-58262050	HIPEpiC	eye:	n/a
30	chr11:58262000-58262050	HEEpiC	esophagus:	n/a
31	chr11:58262000-58262050	AoSMC	blood vessel:	n/a
32	chr11:58262000-58262050	NB4	blood:	n/a
33	chr11:58262000-58262050	GM06990	blood:	n/a
34	chr11:58262000-58262050	NHDF-neo	bronchial:	n/a
35	chr11:58262000-58262050	HL-60	blood:	n/a
36	chr11:58262000-58262050	GM12878	blood:	n/a
37	chr11:58262000-58262050	BE2_C	brain:	n/a
38	chr11:58262000-58262050	HCT-116	colon:	n/a
39	chr11:58262000-58262050	LNCaP	prostate:	n/a
40	chr11:58262000-58262050	K562	blood:	n/a
41	chr11:58262000-58262050	Jurkat	blood:	n/a
42	chr11:58262000-58262050	AG09309	skin:	n/a
43	chr11:58262000-58262050	MCF10A-Er-Src	breast:	n/a
44	chr11:58262000-58262050	HRE	kidney:	n/a
45	chr11:58262000-58262050	NHBE	bronchial:	n/a
46	chr11:58262000-58262050	T-47D	breast:	n/a
47	chr11:58262000-58262050	HPAEpiC	pulmonary alveolar:	n/a
48	chr11:58262000-58262050	Caco-2	colon:	n/a
49	chr11:58262000-58262050	HAEpiC	amniotic membrane:	n/a
50	chr11:58262000-58262050	PrEC	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:58244849..58247132-chr11:58250065..58252889,2	K562	blood:
2	chr11:58245426..58248139-chr3:145902493..145905033,2	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR5B21-1	chr11:58270260-58270509	ENSG00000255299
2	lnc-OR5B21-1	chr11:58265646-58265863	ENSG00000255299
3	lnc-OR5B21-1	chr11:58265361-58265477	ENSG00000255299
4	lnc-OR5B21-1	chr11:58270370-58270581	NONHSAT021473
5	lnc-OR5B21-1	chr11:58265457-58265477	ENSG00000255299
6	lnc-OR5B21-1	chr11:58265503-58265863	NONHSAT021473
7	lnc-OR5B21-1	chr11:58265388-58265477	ENSG00000255299
8	lnc-OR5B21-1	chr11:58265646-58265863	ENSG00000255299
9	lnc-OR5B21-1	chr11:58265646-58265863	ENSG00000255299

No data

Variant related genes	Relation type
ENSG00000255299	TF binding region
ENSG00000255299	CpG island

Extended variants
information (count: 660 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:660 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149217254	chr11:58250012-58250013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536651585	chr11:58250042-58250043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548248379	chr11:58250045-58250046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184358068	chr11:58250051-58250052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143368919	chr11:58250116-58250117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559133203	chr11:58250241-58250242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73487714	chr11:58250249-58250250	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs187715246	chr11:58250284-58250285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552671540	chr11:58250293-58250294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574145758	chr11:58250373-58250374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530999779	chr11:58250406-58250407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193113849	chr11:58250437-58250438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184829999	chr11:58250463-58250464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575540114	chr11:58250491-58250492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545765831	chr11:58250493-58250494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76332582	chr11:58250523-58250524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189207435	chr11:58250528-58250529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368081950	chr11:58250535-58250536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559895703	chr11:58250536-58250537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147983784	chr11:58250585-58250586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74995783	chr11:58251677-58251678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536015846	chr11:58251698-58251699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111432139	chr11:58251701-58251702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182869180	chr11:58251708-58251709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187208312	chr11:58251723-58251724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568891517	chr11:58251733-58251734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539073933	chr11:58251738-58251739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191216528	chr11:58251744-58251745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369682982	chr11:58251754-58251755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149310529	chr11:58251779-58251780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555636613	chr11:58251840-58251841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573768701	chr11:58251841-58251842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376106321	chr11:58251849-58251850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375444553	chr11:58251868-58251869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544366144	chr11:58251901-58251902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563633577	chr11:58251917-58251918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530994661	chr11:58251969-58251970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7125019	chr11:58251994-58251995	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs117838950	chr11:58252003-58252004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528786704	chr11:58252048-58252049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76907928	chr11:58252058-58252059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183133649	chr11:58252064-58252065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567915567	chr11:58252149-58252150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111228920	chr11:58252165-58252166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529470452	chr11:58252166-58252167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551115976	chr11:58252174-58252175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568900383	chr11:58252465-58252466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201481293	chr11:58252574-58252575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537646249	chr11:58252583-58252584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375458895	chr11:58252594-58252595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	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
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58250000-58250600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:58251600-58252400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:58252400-58265200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:58253200-58254400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:58253400-58254000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr11:58253400-58254000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:58253600-58253800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:58253600-58254000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr11:58253600-58254200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr11:58253600-58254200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr11:58253600-58254800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr11:58253800-58254000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr11:58253800-58254200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr11:58254800-58255200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:58258200-58258400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr11:58259600-58259800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:58259800-58260400	Enhancers	Aorta	Aorta
18	chr11:58260200-58260600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:58260400-58262000	Weak transcription	Aorta	Aorta
20	chr11:58261000-58261400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:58261000-58261400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:58261000-58261400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr11:58261000-58261400	Enhancers	NHEK	skin
24	chr11:58261000-58262200	Enhancers	HSMM	muscle
25	chr11:58261000-58262400	Enhancers	NHLF	lung
26	chr11:58261000-58262600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:58261000-58262600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:58261000-58263800	Enhancers	HSMMtube	muscle
29	chr11:58261200-58261800	Enhancers	NHDF-Ad	bronchial
30	chr11:58261200-58262800	Enhancers	Osteobl	bone
31	chr11:58261200-58263000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:58261400-58261800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:58261400-58261800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:58261400-58261800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr11:58261400-58261800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:58261400-58265400	Weak transcription	NHEK	skin
37	chr11:58261800-58262200	Enhancers	GM12878-XiMat	blood
38	chr11:58261800-58262600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr11:58261800-58262800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:58261800-58263800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:58262000-58263200	Enhancers	Aorta	Aorta
42	chr11:58262000-58264400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr11:58262200-58262400	Enhancers	Brain Hippocampus Middle	brain
44	chr11:58262200-58262600	Weak transcription	GM12878-XiMat	blood
45	chr11:58262200-58263400	Weak transcription	HSMM	muscle
46	chr11:58262400-58262800	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr11:58262400-58263200	Weak transcription	NHLF	lung
48	chr11:58262600-58264400	Enhancers	GM12878-XiMat	blood
49	chr11:58262600-58274800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:58263000-58265000	Enhancers	Skeletal Muscle Male	skeletal muscle

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