Variant report

Variant	nsv825891
Chromosome Location	chr11:55092866-55148407
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:140)
CpG islands
(count:611)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:140 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:55113743-55114014	HepG2	liver:	n/a	chr11:55113873-55113884
2	CEBPB	chr11:55143436-55143619	A549	lung:	n/a	n/a
3	CEBPB	chr11:55131841-55132160	HepG2	liver:	n/a	chr11:55131997-55132008 chr11:55131973-55131984
4	CEBPB	chr11:55113744-55114010	IMR90	lung:	n/a	chr11:55113873-55113884
5	CEBPB	chr11:55131951-55132124	A549	lung:	n/a	chr11:55131997-55132008 chr11:55131973-55131984
6	CTCF	chr11:55125100-55125250	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr11:55125040-55125190	HCT-116	colon:	n/a	n/a
8	CTCF	chr11:55125169-55125257	A549	lung:	n/a	n/a
9	CTCF	chr11:55125140-55125290	GM12871	blood:	n/a	n/a
10	CTCF	chr11:55125180-55125330	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr11:55125165-55125305	HepG2	liver:	n/a	n/a
12	CTCF	chr11:55125160-55125310	GM12869	blood:	n/a	n/a
13	CTCF	chr11:55125200-55125350	GM06990	blood:	n/a	n/a
14	CTCF	chr11:55125204-55125226	GM19238	blood:	n/a	n/a
15	CTCF	chr11:55125169-55125321	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr11:55125117-55125451	K562	blood:	n/a	n/a
17	CTCF	chr11:55125160-55125310	HL-60	blood:	n/a	n/a
18	CTCF	chr11:55125160-55125310	SAEC	small airway:	n/a	n/a
19	CTCF	chr11:55125059-55125373	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr11:55125100-55125250	HBMEC	blood vessel:	n/a	n/a
21	CTCF	chr11:55125140-55125290	GM12874	blood:	n/a	n/a
22	CTCF	chr11:55125166-55125347	K562	blood:	n/a	n/a
23	CTCF	chr11:55125040-55125059	GM13976	blood:	n/a	n/a
24	CTCF	chr11:55125186-55125313	GM12878	blood:	n/a	n/a
25	CTCF	chr11:55125140-55125290	GM12864	blood:	n/a	n/a
26	CTCF	chr11:55125140-55125290	RPTEC	kidney:	n/a	n/a
27	CTCF	chr11:55125130-55125388	LNCaP	prostate:	n/a	n/a
28	CTCF	chr11:55125220-55125370	A549	lung:	n/a	n/a
29	CTCF	chr11:55125120-55125270	GM12867	blood:	n/a	n/a
30	CTCF	chr11:55125183-55125254	Fibrobl	skin:	n/a	n/a
31	CTCF	chr11:55124919-55125610	SK-N-SH	brain:	n/a	n/a
32	CTCF	chr11:55125057-55125415	GM12878	blood:	n/a	n/a
33	CTCF	chr11:55125100-55125250	MCF-7	breast:	n/a	n/a
34	CTCF	chr11:55125101-55125454	T-47D	breast:	n/a	n/a
35	CTCF	chr11:55125186-55125270	GM19240	blood:	n/a	n/a
36	CTCF	chr11:55125133-55125357	Gliobla	brain:	n/a	n/a
37	CTCF	chr11:55125065-55125413	K562	blood:	n/a	n/a
38	CTCF	chr11:55125140-55125290	GM12869	blood:	n/a	n/a
39	CTCF	chr11:55125072-55125378	K562	blood:	n/a	n/a
40	CTCF	chr11:55125180-55125330	BE2_C	brain:	n/a	n/a
41	CTCF	chr11:55125101-55125460	HCT-116	colon:	n/a	n/a
42	CTCF	chr11:55125151-55125361	MCF-7	breast:	n/a	n/a
43	CTCF	chr11:55124920-55125070	GM12873	blood:	n/a	n/a
44	CTCF	chr11:55102008-55102079	GM20000	blood:	n/a	n/a
45	CTCF	chr11:55125195-55125323	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr11:55125162-55125313	MCF-7	breast:	n/a	n/a
47	CTCF	chr11:55125200-55125350	GM12873	blood:	n/a	n/a
48	CTCF	chr11:55125096-55125388	A549	lung:	n/a	n/a
49	CTCF	chr11:55125160-55125310	HepG2	liver:	n/a	n/a
50	CTCF	chr11:55125180-55125330	WERI-Rb-1	eye:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55134268-55134318	BJ	skin:	n/a
2	chr11:55134268-55134318	BJ	skin:	n/a
3	chr11:55135337-55135387	ECC-1	luminal epithelium:	n/a
4	chr11:55111658-55111708	CMK	blood:	n/a
5	chr11:55135331-55135381	AoSMC	blood vessel:	n/a
6	chr11:55135222-55135272	BE2_C	brain:	n/a
7	chr11:55110562-55110612	H1-hESC	embryonic stem cell:	embryo
8	chr11:55135337-55135387	NHBE	bronchial:	n/a
9	chr11:55135046-55135096	K562	blood:	n/a
10	chr11:55135337-55135387	SK-N-SH	brain:	n/a
11	chr11:55135337-55135387	HRE	kidney:	n/a
12	chr11:55110233-55110283	NHDF-neo	bronchial:	n/a
13	chr11:55135656-55135706	HCT-116	colon:	n/a
14	chr11:55110233-55110283	AG09309	skin:	n/a
15	chr11:55135046-55135096	GM12878	blood:	n/a
16	chr11:55110233-55110283	HRE	kidney:	n/a
17	chr11:55135331-55135381	Jurkat	blood:	n/a
18	chr11:55111658-55111708	PANC-1	pancreas:	n/a
19	chr11:55135337-55135387	HNPCEpiC	eye:	n/a
20	chr11:55135656-55135706	HL-60	blood:	n/a
21	chr11:55135337-55135387	HPAEpiC	pulmonary alveolar:	n/a
22	chr11:55110562-55110612	HRPEpiC	eye:	n/a
23	chr11:55111658-55111708	MCF-7	breast:	n/a
24	chr11:55135222-55135272	HIPEpiC	eye:	n/a
25	chr11:55110562-55110612	HEK293	kidney:	embryo
26	chr11:55135222-55135272	AG09319	gingival:	n/a
27	chr11:55135046-55135096	SAEC	small airway:	n/a
28	chr11:55110233-55110283	H1-hESC	embryonic stem cell:	embryo
29	chr11:55109885-55109935	Hela-S3	cervix:	n/a
30	chr11:55135331-55135381	SK-N-SH_RA	brain:	n/a
31	chr11:55135222-55135272	HPAEpiC	pulmonary alveolar:	n/a
32	chr11:55134268-55134318	Hela-S3	cervix:	n/a
33	chr11:55135656-55135706	HEK293	kidney:	embryo
34	chr11:55109885-55109935	HepG2	liver:	n/a
35	chr11:55110562-55110612	Caco-2	colon:	n/a
36	chr11:55109885-55109935	Caco-2	colon:	n/a
37	chr11:55110562-55110612	NT2-D1	testis:	n/a
38	chr11:55135046-55135096	PFSK-1	brain:	n/a
39	chr11:55109885-55109935	HRCEpiC	kidney:	n/a
40	chr11:55110233-55110283	A549	lung:	n/a
41	chr11:55110562-55110612	HIPEpiC	eye:	n/a
42	chr11:55135656-55135706	PFSK-1	brain:	n/a
43	chr11:55109885-55109935	Jurkat	blood:	n/a
44	chr11:55135331-55135381	HCT-116	colon:	n/a
45	chr11:55135331-55135381	H1-hESC	embryonic stem cell:	embryo
46	chr11:55134268-55134318	HCPEpiC	choroid plexus:	n/a
47	chr11:55134268-55134318	HNPCEpiC	eye:	n/a
48	chr11:55111658-55111708	AG04450	lung:	fetal
49	chr11:55135222-55135272	K562	blood:	n/a
50	chr11:55135656-55135706	ProgFib	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:55087931..55090092-chr11:55095019..55097450,2	K562	blood:

No data

Variant related genes	Relation type
OR4A16	TF binding region
OR4A12P	TF binding region
OR4A15	TF binding region
OR4A16	CpG island
OR4A12P	CpG island
OR4A15	CpG island

Extended variants
information (count: 425 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:425 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538492678	chr11:55107497-55107498	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs61918407	chr11:55107504-55107505	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs556418761	chr11:55107523-55107524	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs368540818	chr11:55107541-55107542	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs372038114	chr11:55107558-55107559	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs182754619	chr11:55107559-55107560	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs546474781	chr11:55107580-55107581	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs146290080	chr11:55107589-55107590	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs573516903	chr11:55107593-55107594	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs540826683	chr11:55107600-55107601	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs574942577	chr11:55107607-55107608	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs112266150	chr11:55107609-55107610	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs574458247	chr11:55107634-55107635	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs187512702	chr11:55107648-55107649	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs142846642	chr11:55107650-55107651	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs544187503	chr11:55107651-55107652	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs545389217	chr11:55108132-55108133	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs558080132	chr11:55109912-55109913	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs78976577	chr11:55109921-55109922	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs117442637	chr11:55109922-55109923	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs74832906	chr11:55109932-55109933	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs571580369	chr11:55110234-55110235	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs193168148	chr11:55110249-55110250	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs10750871	chr11:55110277-55110278	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs565777810	chr11:55110282-55110283	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs75919730	chr11:55110440-55110441	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs531400410	chr11:55110562-55110563	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs77343615	chr11:55110566-55110567	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs571214028	chr11:55110572-55110573	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs60999778	chr11:55110577-55110578	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs547423295	chr11:55110592-55110593	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs565943239	chr11:55110594-55110595	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs536092057	chr11:55110596-55110597	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs75213121	chr11:55110598-55110599	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs80074384	chr11:55110601-55110602	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs77977511	chr11:55110604-55110605	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs202202418	chr11:55110804-55110805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs200076303	chr11:55110806-55110807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs142814072	chr11:55110807-55110808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs147394509	chr11:55110809-55110810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs201128700	chr11:55110817-55110818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs370400176	chr11:55110825-55110826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs200751761	chr11:55110826-55110827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs139771656	chr11:55110837-55110838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs199644874	chr11:55110843-55110844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs200889979	chr11:55110845-55110846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs201845728	chr11:55110847-55110848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs199939319	chr11:55110849-55110850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs144092380	chr11:55110856-55110857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs200705953	chr11:55110861-55110862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Incontinentia Pigmenti	22033527	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Breast cancer	20369283	CNVD
Bipolar disorder	19214233	CNVD
early-passage human iPS cells	21368824	CNVD
Obesity	21131291	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55110800-55112400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
2	chr11:55120800-55121800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:55120800-55122200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:55121200-55121600	Enhancers	Brain Hippocampus Middle	brain
5	chr11:55124200-55124400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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