Variant report

Variant	nsv554794
Chromosome Location	chr11:55032177-55076217
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:307)
Chromatin interactive
region (count:0)
LncRNA
region (count:24)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr11:55050184-55050482	GM12878	blood:	n/a	chr11:55050282-55050292
2	BATF	chr11:55056701-55057020	GM12878	blood:	n/a	n/a
3	BATF	chr11:55050155-55050460	GM12878	blood:	n/a	chr11:55050282-55050292
4	CTCF	chr11:55040204-55040287	GM13977	blood:	n/a	n/a
5	CTCF	chr11:55036086-55036167	GM20000	blood:	n/a	n/a
6	CTCF	chr11:55060950-55060977	GM20000	blood:	n/a	n/a
7	CTCF	chr11:55054223-55054257	GM20000	blood:	n/a	n/a
8	CTCF	chr11:55043318-55043393	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr11:55044400-55044456	GM13976	blood:	n/a	n/a
10	CTCF	chr11:55044414-55044450	GM20000	blood:	n/a	n/a
11	CTCF	chr11:55050795-55050839	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr11:55054827-55054891	Spleen_OC	spleen:	n/a	n/a
13	CTCF	chr11:55045286-55045346	GM10266	blood:	n/a	n/a
14	CTCF	chr11:55037779-55037846	GM10248	blood:	n/a	n/a
15	CTCF	chr11:55065466-55065514	Lung_OC	lung:	n/a	n/a
16	CTCF	chr11:55054826-55054887	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr11:55032411-55032485	Pancreas_OC	pancreas:	n/a	n/a
18	CTCF	chr11:55043807-55043842	GM10248	blood:	n/a	n/a
19	EBF1	chr11:55050158-55050491	GM12878	blood:	n/a	chr11:55050256-55050266
20	EBF1	chr11:55050337-55050649	GM12878	blood:	n/a	chr11:55050497-55050508 chr11:55050499-55050508 chr11:55050498-55050508 chr11:55050499-55050508 chr11:55050497-55050510
21	EBF1	chr11:55050152-55050414	GM12878	blood:	n/a	chr11:55050256-55050266
22	GABPA	chr11:55071462-55071646	Hela-S3	cervix:	n/a	n/a
23	JUN	chr11:55058092-55058283	HepG2	liver:	n/a	n/a
24	JUND	chr11:55058084-55058317	HepG2	liver:	n/a	n/a
25	PBX3	chr11:55044631-55044815	GM12878	blood:	n/a	n/a
26	PBX3	chr11:55044271-55044396	GM12878	blood:	n/a	n/a
27	PBX3	chr11:55044871-55045077	GM12878	blood:	n/a	n/a
28	PBX3	chr11:55045500-55045753	GM12878	blood:	n/a	n/a
29	PBX3	chr11:55045101-55045405	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:55046999-55047110	Gliobla	brain:	n/a	n/a
31	TCF12	chr11:55050198-55050364	GM12878	blood:	n/a	chr11:55050201-55050211 chr11:55050326-55050333
32	TCF3	chr11:55045523-55045889	GM12878	blood:	n/a	n/a
33	TCF3	chr11:55044539-55044843	GM12878	blood:	n/a	n/a
34	TCF3	chr11:55050139-55050445	GM12878	blood:	n/a	chr11:55050322-55050338
35	ZBTB33	chr11:55052053-55052264	GM12878	blood:	n/a	n/a

(count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55041873-55041923	NH-A	brain:	n/a
2	chr11:55044220-55044270	BJ	skin:	n/a
3	chr11:55041873-55041923	NH-A	brain:	n/a
4	chr11:55044220-55044270	BJ	skin:	n/a
5	chr11:55041873-55041923	ProgFib	skin:	n/a
6	chr11:55044082-55044132	AG04450	lung:	fetal
7	chr11:55044220-55044270	HCM	heart:	n/a
8	chr11:55041873-55041923	Hela-S3	cervix:	n/a
9	chr11:55041873-55041923	GM12891	blood:	n/a
10	chr11:55044082-55044132	CMK	blood:	n/a
11	chr11:55044082-55044132	HRPEpiC	eye:	n/a
12	chr11:55066025-55066075	SK-N-SH	brain:	n/a
13	chr11:55066025-55066075	NB4	blood:	n/a
14	chr11:55044220-55044270	SKMC	muscle:	n/a
15	chr11:55041873-55041923	SAEC	small airway:	n/a
16	chr11:55044145-55044195	ProgFib	skin:	n/a
17	chr11:55044145-55044195	HAEpiC	amniotic membrane:	n/a
18	chr11:55066025-55066075	ovcar-3	ovarian:	n/a
19	chr11:55041873-55041923	GM12892	blood:	n/a
20	chr11:55041873-55041923	AG04449	skin:	fetal
21	chr11:55066025-55066075	HPAEpiC	pulmonary alveolar:	n/a
22	chr11:55066025-55066075	AG04449	skin:	fetal
23	chr11:55041873-55041923	AG09309	skin:	n/a
24	chr11:55044145-55044195	HEK293	kidney:	embryo
25	chr11:55044145-55044195	SK-N-SH	brain:	n/a
26	chr11:55066025-55066075	PANC-1	pancreas:	n/a
27	chr11:55041873-55041923	RPTEC	kidney:	n/a
28	chr11:55044220-55044270	HMEC	breast:	n/a
29	chr11:55044145-55044195	PANC-1	pancreas:	n/a
30	chr11:55044220-55044270	SK-N-MC	brain:	n/a
31	chr11:55066025-55066075	RPTEC	kidney:	n/a
32	chr11:55041873-55041923	BE2_C	brain:	n/a
33	chr11:55044220-55044270	AG09319	gingival:	n/a
34	chr11:55044220-55044270	HEEpiC	esophagus:	n/a
35	chr11:55044145-55044195	HCPEpiC	choroid plexus:	n/a
36	chr11:55044145-55044195	HPAEpiC	pulmonary alveolar:	n/a
37	chr11:55044082-55044132	AG09309	skin:	n/a
38	chr11:55044145-55044195	SK-N-SH_RA	brain:	n/a
39	chr11:55044220-55044270	SK-N-SH_RA	brain:	n/a
40	chr11:55066025-55066075	SAEC	small airway:	n/a
41	chr11:55044220-55044270	CMK	blood:	n/a
42	chr11:55066025-55066075	U87	brain:	n/a
43	chr11:55044082-55044132	NHDF-neo	bronchial:	n/a
44	chr11:55044145-55044195	Caco-2	colon:	n/a
45	chr11:55044145-55044195	Hepatocyte	liver:	n/a
46	chr11:55044145-55044195	BJ	skin:	n/a
47	chr11:55044145-55044195	BE2_C	brain:	n/a
48	chr11:55044082-55044132	HMEC	breast:	n/a
49	chr11:55044082-55044132	HL-60	blood:	n/a
50	chr11:55044220-55044270	Hela-S3	cervix:	n/a

No data

(count:24 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C11-3	chr11:55064955-55065051	NR_038174
2	lnc-TRIM48-2	chr11:55049978-55050453	NONHSAT021355
3	lnc-OR4C11-4	chr11:55052134-55052227	NONHSAT021356
4	lnc-OR4A16-3	chr11:55034884-55035112	NONHSAT021352
5	lnc-OR4C11-2	chr11:55072505-55072536	NONHSAT021358
6	lnc-OR4C11-2	chr11:55071537-55071634	NONHSAT021358
7	lnc-OR4C11-3	chr11:55061179-55061232	NR_038174
8	lnc-OR4C11-4	chr11:55046923-55047254	NONHSAT021353
9	lnc-OR4C11-2	chr11:55069766-55070437	NONHSAT021358
10	lnc-OR4C11-4	chr11:55052405-55052415	NONHSAT021356
11	lnc-OR4C11-3	chr11:55065335-55065708	NR_038174
12	lnc-OR4C11-3	chr11:55064955-55065048	NONHSAT021357
13	lnc-OR4C11-3	chr11:55062708-55063166	NONHSAT021357
14	lnc-OR4C11-3	chr11:55062198-55062220	NR_038174
15	lnc-OR4C11-3	chr11:55062198-55062220	NONHSAT021357
16	lnc-OR4C11-4	chr11:55052545-55052560	NONHSAT021356
17	lnc-OR4C11-4	chr11:55052911-55052999	NONHSAT021356
18	lnc-OR4C11-4	chr11:55050561-55050681	NONHSAT021353
19	lnc-OR4C11-3	chr11:55062708-55063166	NR_038174
20	lnc-OR4C11-3	chr11:55065334-55065439	NONHSAT021357
21	lnc-OR4C11-4	chr11:55052131-55052225	NONHSAT021353
22	lnc-OR4C11-4	chr11:55047367-55047617	NONHSAT021353
23	lnc-OR4C11-3	chr11:55061180-55061232	NONHSAT021357
24	lnc-TRIM48-1	chr11:55047425-55047765	NONHSAT021354

No data

Variant related genes	Relation type
ENSG00000254696	TF binding region
ENSG00000255543	TF binding region
TRIM51HP	TF binding region
ENSG00000254828	TF binding region
ENSG00000255283	TF binding region
ENSG00000255110	TF binding region
ENSG00000254696	CpG island
ENSG00000255543	CpG island
TRIM51HP	CpG island
ENSG00000254828	CpG island
ENSG00000255283	CpG island
ENSG00000255110	CpG island

Extended variants
information (count: 565 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:565 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199505585	chr11:55032411-55032412	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs200539887	chr11:55032415-55032416	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs201555277	chr11:55032416-55032417	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs200170748	chr11:55032418-55032419	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs144999178	chr11:55032422-55032423	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs545448989	chr11:55032425-55032426	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs147593172	chr11:55032429-55032430	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs112137140	chr11:55032434-55032435	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs560602745	chr11:55032435-55032436	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs200709338	chr11:55032442-55032443	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs375012867	chr11:55032443-55032444	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs527664203	chr11:55032451-55032452	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs549443392	chr11:55032453-55032454	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs377379499	chr11:55032454-55032455	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs79623326	chr11:55032462-55032463	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs561554119	chr11:55032465-55032466	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs143766722	chr11:55032478-55032479	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs369542635	chr11:55032485-55032486	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs3925362	chr11:55034914-55034915	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs201678462	chr11:55034945-55034946	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs545658061	chr11:55034975-55034976	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs564073797	chr11:55034978-55034979	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs2867253	chr11:55034990-55034991	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs187694179	chr11:55034994-55034995	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs2867254	chr11:55035007-55035008	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs540085174	chr11:55035026-55035027	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs2867255	chr11:55035038-55035039	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs61894889	chr11:55035043-55035044	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs529348153	chr11:55035047-55035048	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs561657790	chr11:55035049-55035050	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs11300273	chr11:55035053-55035054	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs2867256	chr11:55035062-55035063	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs2867257	chr11:55035066-55035067	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs550799758	chr11:55035068-55035069	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs117358624	chr11:55035069-55035070	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs533190576	chr11:55035086-55035087	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs552090747	chr11:55035087-55035088	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs2867258	chr11:55035097-55035098	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs560879120	chr11:55043339-55043340	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs181946327	chr11:55043359-55043360	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs111322801	chr11:55043808-55043809	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs557041883	chr11:55043815-55043816	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs541940794	chr11:55043816-55043817	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs113292968	chr11:55043827-55043828	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs563317713	chr11:55043828-55043829	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs72918587	chr11:55044083-55044084	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs541904030	chr11:55044094-55044095	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs375865474	chr11:55044123-55044124	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs77441910	chr11:55044128-55044129	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs61894907	chr11:55044145-55044146	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55049200-55050000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:55049400-55050000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:55051800-55052200	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr11:55057200-55057600	Active TSS	Fetal Heart	heart

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