Variant report

Variant	nsv983021
Chromosome Location	chr11:55059121-55076487
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:13)
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	CTCF	chr11:55065466-55065514	Lung_OC	lung:	n/a	n/a
2	CTCF	chr11:55060950-55060977	GM20000	blood:	n/a	n/a
3	GABPA	chr11:55071462-55071646	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55066025-55066075	SKMC	muscle:	n/a
2	chr11:55066025-55066075	GM06990	blood:	n/a
3	chr11:55066025-55066075	H1-hESC	embryonic stem cell:	embryo
4	chr11:55066025-55066075	PFSK-1	brain:	n/a
5	chr11:55066025-55066075	CMK	blood:	n/a
6	chr11:55066025-55066075	SK-N-SH_RA	brain:	n/a
7	chr11:55066025-55066075	NHBE	bronchial:	n/a
8	chr11:55066025-55066075	IMR90	lung:	fetal
9	chr11:55066025-55066075	AoSMC	blood vessel:	n/a
10	chr11:55066025-55066075	AG04449	skin:	fetal
11	chr11:55066025-55066075	Jurkat	blood:	n/a
12	chr11:55066025-55066075	GM12878	blood:	n/a
13	chr11:55066025-55066075	GM12891	blood:	n/a
14	chr11:55066025-55066075	HAEpiC	amniotic membrane:	n/a
15	chr11:55066025-55066075	PANC-1	pancreas:	n/a
16	chr11:55066025-55066075	HEK293	kidney:	embryo
17	chr11:55066025-55066075	HRE	kidney:	n/a
18	chr11:55066025-55066075	U87	brain:	n/a
19	chr11:55066025-55066075	ProgFib	skin:	n/a
20	chr11:55066025-55066075	Hela-S3	cervix:	n/a
21	chr11:55066025-55066075	HCT-116	colon:	n/a
22	chr11:55066025-55066075	BE2_C	brain:	n/a
23	chr11:55066025-55066075	AG10803	skin:	n/a
24	chr11:55066025-55066075	HRPEpiC	eye:	n/a
25	chr11:55066025-55066075	BJ	skin:	n/a
26	chr11:55066025-55066075	NB4	blood:	n/a
27	chr11:55066025-55066075	AG04450	lung:	fetal
28	chr11:55066025-55066075	GM19239	blood:	n/a
29	chr11:55066025-55066075	HRCEpiC	kidney:	n/a
30	chr11:55066025-55066075	SAEC	small airway:	n/a
31	chr11:55066025-55066075	HCM	heart:	n/a
32	chr11:55066025-55066075	HEEpiC	esophagus:	n/a
33	chr11:55066025-55066075	HepG2	liver:	n/a
34	chr11:55066025-55066075	Hepatocyte	liver:	n/a
35	chr11:55066025-55066075	SK-N-SH	brain:	n/a
36	chr11:55066025-55066075	HUVEC	blood vessel:	n/a
37	chr11:55066025-55066075	NHDF-neo	bronchial:	n/a
38	chr11:55066025-55066075	HPAEpiC	pulmonary alveolar:	n/a
39	chr11:55066025-55066075	HCF	heart:	n/a
40	chr11:55066025-55066075	HNPCEpiC	eye:	n/a
41	chr11:55066025-55066075	RPTEC	kidney:	n/a
42	chr11:55066025-55066075	K562	blood:	n/a
43	chr11:55066025-55066075	Caco-2	colon:	n/a
44	chr11:55066025-55066075	MCF10A-Er-Src	breast:	n/a
45	chr11:55066025-55066075	NT2-D1	testis:	n/a
46	chr11:55066025-55066075	GM12892	blood:	n/a
47	chr11:55066025-55066075	HL-60	blood:	n/a
48	chr11:55066025-55066075	T-47D	breast:	n/a
49	chr11:55066025-55066075	HIPEpiC	eye:	n/a
50	chr11:55066025-55066075	AG09319	gingival:	n/a

No data

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C11-3	chr11:55064955-55065051	NR_038174
2	lnc-OR4C11-2	chr11:55069766-55070437	NONHSAT021358
3	lnc-OR4C11-3	chr11:55065334-55065439	NONHSAT021357
4	lnc-OR4C11-2	chr11:55072505-55072536	NONHSAT021358
5	lnc-OR4C11-3	chr11:55064955-55065048	NONHSAT021357
6	lnc-OR4C11-3	chr11:55062198-55062220	NONHSAT021357
7	lnc-OR4C11-3	chr11:55065335-55065708	NR_038174
8	lnc-OR4C11-3	chr11:55062708-55063166	NONHSAT021357
9	lnc-OR4C11-3	chr11:55061179-55061232	NR_038174
10	lnc-OR4C11-3	chr11:55061180-55061232	NONHSAT021357
11	lnc-OR4C11-3	chr11:55062198-55062220	NR_038174
12	lnc-OR4C11-2	chr11:55071537-55071634	NONHSAT021358
13	lnc-OR4C11-3	chr11:55062708-55063166	NR_038174

No data

Variant related genes	Relation type
TRIM51HP	TF binding region
ENSG00000254828	TF binding region
TRIM51HP	CpG island
ENSG00000254828	CpG island

Extended variants
information (count: 132 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563540910	chr11:55061179-55061180	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs530906973	chr11:55061210-55061211	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs544578621	chr11:55062203-55062204	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs562582940	chr11:55062210-55062211	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs533441116	chr11:55062212-55062213	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs543193013	chr11:55062736-55062737	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs140377672	chr11:55062740-55062741	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs528982466	chr11:55062745-55062746	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs1963420	chr11:55062746-55062747	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs552868834	chr11:55062761-55062762	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs61895984	chr11:55062762-55062763	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs532926554	chr11:55062786-55062787	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs551420784	chr11:55062824-55062825	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs192890083	chr11:55062837-55062838	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs570930049	chr11:55062855-55062856	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs549157792	chr11:55062862-55062863	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs567301303	chr11:55062863-55062864	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs185484802	chr11:55062865-55062866	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs556205646	chr11:55062877-55062878	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs577737020	chr11:55062883-55062884	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs138117133	chr11:55062899-55062900	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs12577269	chr11:55062905-55062906	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs373130774	chr11:55062921-55062922	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs117292589	chr11:55062925-55062926	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs556732134	chr11:55062960-55062961	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs543000212	chr11:55062964-55062965	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs561631454	chr11:55063000-55063001	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs11229027	chr11:55063059-55063060	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs199533784	chr11:55063070-55063071	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs371064077	chr11:55063101-55063102	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs149574774	chr11:55063117-55063118	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs568060787	chr11:55063129-55063130	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs551385945	chr11:55063131-55063132	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs11821230	chr11:55064967-55064968	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs144937487	chr11:55064976-55064977	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs536794882	chr11:55065021-55065022	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs539230652	chr11:55065031-55065032	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs79440813	chr11:55065041-55065042	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs550757044	chr11:55065336-55065337	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs569061194	chr11:55065337-55065338	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs185019158	chr11:55065339-55065340	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs540653152	chr11:55065340-55065341	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs369987966	chr11:55065367-55065368	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs570473795	chr11:55065374-55065375	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs534588935	chr11:55065381-55065382	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs201823831	chr11:55065399-55065400	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs4100284	chr11:55065401-55065402	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs4100283	chr11:55065402-55065403	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs187437202	chr11:55065416-55065417	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs192206866	chr11:55065419-55065420	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	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
Multiple myeloma	16616336	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Alcoholism	21790672	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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