Variant report

Variant	nsv321
Chromosome Location	chr11:55028767-55071259
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:367)
Chromatin interactive
region (count:0)
LncRNA
region (count:22)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr11:55050155-55050460	GM12878	blood:	n/a	chr11:55050282-55050292
2	BATF	chr11:55056701-55057020	GM12878	blood:	n/a	n/a
3	BATF	chr11:55050184-55050482	GM12878	blood:	n/a	chr11:55050282-55050292
4	CTCF	chr11:55043807-55043842	GM10248	blood:	n/a	n/a
5	CTCF	chr11:55044400-55044456	GM13976	blood:	n/a	n/a
6	CTCF	chr11:55054827-55054891	Spleen_OC	spleen:	n/a	n/a
7	CTCF	chr11:55065466-55065514	Lung_OC	lung:	n/a	n/a
8	CTCF	chr11:55045286-55045346	GM10266	blood:	n/a	n/a
9	CTCF	chr11:55040204-55040287	GM13977	blood:	n/a	n/a
10	CTCF	chr11:55044414-55044450	GM20000	blood:	n/a	n/a
11	CTCF	chr11:55036086-55036167	GM20000	blood:	n/a	n/a
12	CTCF	chr11:55037779-55037846	GM10248	blood:	n/a	n/a
13	CTCF	chr11:55060950-55060977	GM20000	blood:	n/a	n/a
14	CTCF	chr11:55043318-55043393	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr11:55054223-55054257	GM20000	blood:	n/a	n/a
16	CTCF	chr11:55029281-55029400	LNCaP	prostate:	n/a	n/a
17	CTCF	chr11:55050795-55050839	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr11:55054826-55054887	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr11:55032411-55032485	Pancreas_OC	pancreas:	n/a	n/a
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	chr11:55050158-55050491	GM12878	blood:	n/a	chr11:55050256-55050266
22	EBF1	chr11:55050152-55050414	GM12878	blood:	n/a	chr11:55050256-55050266
23	JUN	chr11:55058092-55058283	HepG2	liver:	n/a	n/a
24	JUND	chr11:55058084-55058317	HepG2	liver:	n/a	n/a
25	PBX3	chr11:55045101-55045405	GM12878	blood:	n/a	n/a
26	PBX3	chr11:55044871-55045077	GM12878	blood:	n/a	n/a
27	PBX3	chr11:55045500-55045753	GM12878	blood:	n/a	n/a
28	PBX3	chr11:55044271-55044396	GM12878	blood:	n/a	n/a
29	PBX3	chr11:55044631-55044815	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:55046999-55047110	Gliobla	brain:	n/a	n/a
31	POLR2A	chr11:55029134-55029289	ProgFib	skin:	n/a	n/a
32	TCF12	chr11:55050198-55050364	GM12878	blood:	n/a	chr11:55050201-55050211 chr11:55050326-55050333
33	TCF3	chr11:55045523-55045889	GM12878	blood:	n/a	n/a
34	TCF3	chr11:55044539-55044843	GM12878	blood:	n/a	n/a
35	TCF3	chr11:55050139-55050445	GM12878	blood:	n/a	chr11:55050322-55050338
36	ZBTB33	chr11:55052053-55052264	GM12878	blood:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55044145-55044195	IMR90	lung:	fetal
2	chr11:55044145-55044195	IMR90	lung:	fetal
3	chr11:55044082-55044132	SK-N-SH_RA	brain:	n/a
4	chr11:55044145-55044195	AG10803	skin:	n/a
5	chr11:55044220-55044270	SK-N-MC	brain:	n/a
6	chr11:55029786-55029836	HCT-116	colon:	n/a
7	chr11:55066025-55066075	HEEpiC	esophagus:	n/a
8	chr11:55041873-55041923	NHBE	bronchial:	n/a
9	chr11:55066025-55066075	H1-hESC	embryonic stem cell:	embryo
10	chr11:55044145-55044195	ovcar-3	ovarian:	n/a
11	chr11:55044082-55044132	BJ	skin:	n/a
12	chr11:55044145-55044195	Caco-2	colon:	n/a
13	chr11:55066025-55066075	SKMC	muscle:	n/a
14	chr11:55044145-55044195	U87	brain:	n/a
15	chr11:55044220-55044270	Jurkat	blood:	n/a
16	chr11:55041873-55041923	HRCEpiC	kidney:	n/a
17	chr11:55066025-55066075	NT2-D1	testis:	n/a
18	chr11:55044220-55044270	GM19239	blood:	n/a
19	chr11:55041873-55041923	NT2-D1	testis:	n/a
20	chr11:55041873-55041923	HNPCEpiC	eye:	n/a
21	chr11:55044145-55044195	HepG2	liver:	n/a
22	chr11:55029786-55029836	SKMC	muscle:	n/a
23	chr11:55066025-55066075	SK-N-SH	brain:	n/a
24	chr11:55066025-55066075	BE2_C	brain:	n/a
25	chr11:55044082-55044132	HAEpiC	amniotic membrane:	n/a
26	chr11:55044220-55044270	GM12878	blood:	n/a
27	chr11:55044082-55044132	LNCaP	prostate:	n/a
28	chr11:55041873-55041923	HCF	heart:	n/a
29	chr11:55044220-55044270	PrEC	prostate:	n/a
30	chr11:55066025-55066075	HEK293	kidney:	embryo
31	chr11:55044082-55044132	Hepatocyte	liver:	n/a
32	chr11:55044145-55044195	HIPEpiC	eye:	n/a
33	chr11:55066025-55066075	Hepatocyte	liver:	n/a
34	chr11:55044220-55044270	H1-hESC	embryonic stem cell:	embryo
35	chr11:55044082-55044132	HL-60	blood:	n/a
36	chr11:55044220-55044270	HCM	heart:	n/a
37	chr11:55066025-55066075	LNCaP	prostate:	n/a
38	chr11:55066025-55066075	HAEpiC	amniotic membrane:	n/a
39	chr11:55044145-55044195	MCF10A-Er-Src	breast:	n/a
40	chr11:55029786-55029836	AG04449	skin:	fetal
41	chr11:55041873-55041923	HUVEC	blood vessel:	n/a
42	chr11:55066025-55066075	HNPCEpiC	eye:	n/a
43	chr11:55066025-55066075	Caco-2	colon:	n/a
44	chr11:55044082-55044132	PANC-1	pancreas:	n/a
45	chr11:55044145-55044195	SK-N-SH	brain:	n/a
46	chr11:55044082-55044132	HIPEpiC	eye:	n/a
47	chr11:55044082-55044132	PrEC	prostate:	n/a
48	chr11:55044220-55044270	HUVEC	blood vessel:	n/a
49	chr11:55044082-55044132	Caco-2	colon:	n/a
50	chr11:55029786-55029836	MCF10A-Er-Src	breast:	n/a

No data

(count:22 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000254696	TF binding region
ENSG00000255543	TF binding region
TRIM51HP	TF binding region
ENSG00000255283	TF binding region
TRIM48	TF binding region
ENSG00000255110	TF binding region
ENSG00000254696	CpG island
ENSG00000255543	CpG island
TRIM51HP	CpG island
ENSG00000255283	CpG island
TRIM48	CpG island
ENSG00000255110	CpG island

Extended variants
information (count: 761 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:761 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541444753	chr11:55028768-55028769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs61898414	chr11:55028792-55028793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs545215478	chr11:55028816-55028817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191162403	chr11:55028829-55028830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181209051	chr11:55028832-55028833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184916377	chr11:55028839-55028840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189773750	chr11:55028848-55028849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531757362	chr11:55028850-55028851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182292670	chr11:55028873-55028874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543641308	chr11:55028879-55028880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571944105	chr11:55028882-55028883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372693590	chr11:55028918-55028919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538838489	chr11:55028936-55028937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201303305	chr11:55028977-55028978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs202152865	chr11:55028978-55028979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs398097546	chr11:55028987-55028988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187704328	chr11:55028989-55028990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs3853881	chr11:55029016-55029017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111714789	chr11:55029048-55029049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548961779	chr11:55029063-55029064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533845390	chr11:55029074-55029075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35514196	chr11:55029076-55029077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559708653	chr11:55029109-55029110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555048146	chr11:55029130-55029131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573274365	chr11:55029138-55029139	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs192473836	chr11:55029170-55029171	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs34074212	chr11:55029180-55029181	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs369446831	chr11:55029181-55029182	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs11823321	chr11:55029196-55029197	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs544865531	chr11:55029217-55029218	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs560251204	chr11:55029222-55029223	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs572148287	chr11:55029234-55029235	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs3845264	chr11:55029240-55029241	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs561380945	chr11:55029252-55029253	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs145236417	chr11:55029274-55029275	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs549220042	chr11:55029277-55029278	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs559630384	chr11:55029281-55029282	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs565438703	chr11:55029286-55029287	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs532882668	chr11:55029295-55029296	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs551338119	chr11:55029324-55029325	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs546174226	chr11:55029327-55029328	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs547784946	chr11:55029341-55029342	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs571438658	chr11:55029344-55029345	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs183425295	chr11:55029356-55029357	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs536469463	chr11:55029360-55029361	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs11228899	chr11:55029394-55029395	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs571232837	chr11:55029437-55029438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61894884	chr11:55029455-55029456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555780716	chr11:55029469-55029470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567705826	chr11:55029478-55029479	Weak transcription	n/a	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55026600-55030400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:55030400-55031600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:55049200-55050000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:55049400-55050000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:55051800-55052200	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr11:55057200-55057600	Active TSS	Fetal Heart	heart

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