Variant report

Variant	nsv975110
Chromosome Location	chr11:55076487-55318108
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:319)
CpG islands
(count:735)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:55131841-55132160	HepG2	liver:	n/a	chr11:55131997-55132008 chr11:55131973-55131984
2	CEBPB	chr11:55268173-55268348	K562	blood:	n/a	n/a
3	CEBPB	chr11:55143436-55143619	A549	lung:	n/a	n/a
4	CEBPB	chr11:55180617-55180678	HepG2	liver:	n/a	n/a
5	CEBPB	chr11:55225032-55225273	A549	lung:	n/a	n/a
6	CEBPB	chr11:55131951-55132124	A549	lung:	n/a	chr11:55131997-55132008 chr11:55131973-55131984
7	CEBPB	chr11:55195039-55195318	HepG2	liver:	n/a	chr11:55195175-55195186
8	CEBPB	chr11:55237138-55237399	A549	lung:	n/a	chr11:55237275-55237286
9	CEBPB	chr11:55217456-55217716	HepG2	liver:	n/a	chr11:55217582-55217595 chr11:55217582-55217595 chr11:55217582-55217595 chr11:55217583-55217594 chr11:55217582-55217593
10	CEBPB	chr11:55205280-55205382	HepG2	liver:	n/a	chr11:55205357-55205370 chr11:55205358-55205369
11	CEBPB	chr11:55195070-55195304	IMR90	lung:	n/a	chr11:55195175-55195186
12	CEBPB	chr11:55237118-55237419	HepG2	liver:	n/a	chr11:55237275-55237286
13	CEBPB	chr11:55113744-55114010	IMR90	lung:	n/a	chr11:55113873-55113884
14	CEBPB	chr11:55290616-55290841	HepG2	liver:	n/a	chr11:55290662-55290673
15	CEBPB	chr11:55186537-55186742	HepG2	liver:	n/a	chr11:55186568-55186579
16	CEBPB	chr11:55312931-55313225	HepG2	liver:	n/a	chr11:55313093-55313104
17	CEBPB	chr11:55113743-55114014	HepG2	liver:	n/a	chr11:55113873-55113884
18	CTCF	chr11:55271060-55271210	A549	lung:	n/a	n/a
19	CTCF	chr11:55125068-55125430	A549	lung:	n/a	n/a
20	CTCF	chr11:55125072-55125378	K562	blood:	n/a	n/a
21	CTCF	chr11:55125152-55125355	HepG2	liver:	n/a	n/a
22	CTCF	chr11:55271073-55271164	MCF-7	breast:	n/a	n/a
23	CTCF	chr11:55125132-55125369	HCT-116	colon:	n/a	n/a
24	CTCF	chr11:55125100-55125250	GM12878	blood:	n/a	n/a
25	CTCF	chr11:55125140-55125290	GM12869	blood:	n/a	n/a
26	CTCF	chr11:55125160-55125310	SAEC	small airway:	n/a	n/a
27	CTCF	chr11:55125120-55125270	GM12867	blood:	n/a	n/a
28	CTCF	chr11:55125140-55125290	NHEK	skin:	n/a	n/a
29	CTCF	chr11:55102008-55102079	GM20000	blood:	n/a	n/a
30	CTCF	chr11:55125121-55125385	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr11:55125220-55125370	Caco-2	colon:	n/a	n/a
32	CTCF	chr11:55125126-55125378	T-47D	breast:	n/a	n/a
33	CTCF	chr11:55125140-55125290	GM12871	blood:	n/a	n/a
34	CTCF	chr11:55197254-55197336	GM20000	blood:	n/a	n/a
35	CTCF	chr11:55270919-55271230	MCF-7	breast:	n/a	n/a
36	CTCF	chr11:55271040-55271190	GM12873	blood:	n/a	n/a
37	CTCF	chr11:55125195-55125323	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr11:55125168-55125315	A549	lung:	n/a	n/a
39	CTCF	chr11:55125146-55125400	MCF-7	breast:	n/a	n/a
40	CTCF	chr11:55125100-55125250	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr11:55125180-55125330	NB4	blood:	n/a	n/a
42	CTCF	chr11:55125100-55125250	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr11:55227500-55227535	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr11:55125160-55125310	HepG2	liver:	n/a	n/a
45	CTCF	chr11:55125180-55125330	A549	lung:	n/a	n/a
46	CTCF	chr11:55125186-55125313	GM12878	blood:	n/a	n/a
47	CTCF	chr11:55125057-55125415	GM12878	blood:	n/a	n/a
48	CTCF	chr11:55125133-55125357	Gliobla	brain:	n/a	n/a
49	CTCF	chr11:55271040-55271190	GM06990	blood:	n/a	n/a
50	CTCF	chr11:55174469-55174553	GM13976	blood:	n/a	n/a

(count:735 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55135331-55135381	NH-A	brain:	n/a
2	chr11:55135656-55135706	HepG2	liver:	n/a
3	chr11:55109885-55109935	GM12892	blood:	n/a
4	chr11:55135331-55135381	NH-A	brain:	n/a
5	chr11:55135656-55135706	HepG2	liver:	n/a
6	chr11:55109885-55109935	GM12892	blood:	n/a
7	chr11:55110562-55110612	Caco-2	colon:	n/a
8	chr11:55110562-55110612	H1-hESC	embryonic stem cell:	embryo
9	chr11:55135222-55135272	HCM	heart:	n/a
10	chr11:55110562-55110612	GM12878	blood:	n/a
11	chr11:55134268-55134318	HEK293	kidney:	embryo
12	chr11:55135046-55135096	NB4	blood:	n/a
13	chr11:55109885-55109935	Caco-2	colon:	n/a
14	chr11:55109885-55109935	SK-N-MC	brain:	n/a
15	chr11:55135331-55135381	SAEC	small airway:	n/a
16	chr11:55135046-55135096	SKMC	muscle:	n/a
17	chr11:55135331-55135381	PFSK-1	brain:	n/a
18	chr11:55135222-55135272	T-47D	breast:	n/a
19	chr11:55110562-55110612	HEK293	kidney:	embryo
20	chr11:55110562-55110612	NH-A	brain:	n/a
21	chr11:55134268-55134318	SK-N-MC	brain:	n/a
22	chr11:55135331-55135381	GM12891	blood:	n/a
23	chr11:55109885-55109935	A549	lung:	n/a
24	chr11:55110233-55110283	HAEpiC	amniotic membrane:	n/a
25	chr11:55109885-55109935	GM06990	blood:	n/a
26	chr11:55135222-55135272	PANC-1	pancreas:	n/a
27	chr11:55111658-55111708	HCF	heart:	n/a
28	chr11:55135656-55135706	Hela-S3	cervix:	n/a
29	chr11:55110233-55110283	GM12892	blood:	n/a
30	chr11:55135656-55135706	T-47D	breast:	n/a
31	chr11:55110562-55110612	HepG2	liver:	n/a
32	chr11:55135331-55135381	Hela-S3	cervix:	n/a
33	chr11:55227646-55227696	GM12878	blood:	n/a
34	chr11:55109885-55109935	SKMC	muscle:	n/a
35	chr11:55135337-55135387	H1-hESC	embryonic stem cell:	embryo
36	chr11:55135337-55135387	PrEC	prostate:	n/a
37	chr11:55110233-55110283	HRE	kidney:	n/a
38	chr11:55134268-55134318	ovcar-3	ovarian:	n/a
39	chr11:55227718-55227768	HepG2	liver:	n/a
40	chr11:55135337-55135387	PANC-1	pancreas:	n/a
41	chr11:55110233-55110283	NHDF-neo	bronchial:	n/a
42	chr11:55135337-55135387	HMEC	breast:	n/a
43	chr11:55135337-55135387	HUVEC	blood vessel:	n/a
44	chr11:55110233-55110283	CMK	blood:	n/a
45	chr11:55135656-55135706	HRCEpiC	kidney:	n/a
46	chr11:55109885-55109935	MCF-7	breast:	n/a
47	chr11:55135222-55135272	AG09319	gingival:	n/a
48	chr11:55111658-55111708	MCF10A-Er-Src	breast:	n/a
49	chr11:55135222-55135272	HCF	heart:	n/a
50	chr11:55134268-55134318	NB4	blood:	n/a

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

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

No data

Variant related genes	Relation type
OR4A11P	TF binding region
OR4A13P	TF binding region
OR4A9P	TF binding region
OR4A21P	TF binding region
OR4A50P	TF binding region
OR4A14P	TF binding region
OR4C1P	TF binding region
ENSG00000254828	TF binding region
OR4A10P	TF binding region
OR4A17P	TF binding region
OR4A16	TF binding region
OR4X7P	TF binding region
ENSG00000255493	TF binding region
OR4C15	TF binding region
OR4A12P	TF binding region
OR4A15	TF binding region
OR4C14P	TF binding region
OR4A11P	CpG island
OR4A13P	CpG island
OR4A9P	CpG island
OR4A21P	CpG island
OR4A50P	CpG island
OR4A14P	CpG island
OR4C1P	CpG island
ENSG00000254828	CpG island
OR4A10P	CpG island
OR4A17P	CpG island
OR4A16	CpG island
OR4X7P	CpG island
ENSG00000255493	CpG island
OR4C15	CpG island
OR4A12P	CpG island
OR4A15	CpG island
OR4C14P	CpG island

Extended variants
information (count: 2578 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:2578 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573159924	chr11:55077380-55077381	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs534131093	chr11:55077398-55077399	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs138500261	chr11:55077401-55077402	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs72486169	chr11:55077409-55077410	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs560036265	chr11:55077437-55077438	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs541937380	chr11:55077457-55077458	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs531228599	chr11:55079642-55079643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs371690524	chr11:55079650-55079651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs76780498	chr11:55079697-55079698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs74558188	chr11:55079719-55079720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs79740592	chr11:55079720-55079721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs577471634	chr11:55079742-55079743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs79437697	chr11:55079757-55079758	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs141373722	chr11:55079788-55079789	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs75477091	chr11:55079818-55079819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs114012018	chr11:55079832-55079833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs7943624	chr11:55079850-55079851	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs542779777	chr11:55079854-55079855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs77578970	chr11:55079864-55079865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs78773668	chr11:55079872-55079873	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs567848121	chr11:55079876-55079877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs116205233	chr11:55079884-55079885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs77174528	chr11:55079887-55079888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs75056380	chr11:55079896-55079897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs7943639	chr11:55079897-55079898	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs77445330	chr11:55079898-55079899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs76067076	chr11:55079899-55079900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs76775753	chr11:55079902-55079903	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs78904464	chr11:55079909-55079910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs78819029	chr11:55079919-55079920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs34287812	chr11:55079927-55079928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs376682554	chr11:55079929-55079930	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs368822437	chr11:55079970-55079971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs115174018	chr11:55079990-55079991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs372993154	chr11:55079995-55079996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs7951955	chr11:55080015-55080016	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs539676230	chr11:55080026-55080027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs116700206	chr11:55080060-55080061	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs530288061	chr11:55080072-55080073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs114065841	chr11:55080088-55080089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs149026581	chr11:55080095-55080096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs556203007	chr11:55080103-55080104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs575568981	chr11:55080108-55080109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs116479990	chr11:55080137-55080138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs112111166	chr11:55080238-55080239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs544310067	chr11:55080308-55080309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs148197220	chr11:55080343-55080344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs1836284	chr11:55080344-55080345	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs151182597	chr11:55080356-55080357	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs554014937	chr11:55080359-55080360	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55079600-55081200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:55083400-55083800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:55110800-55112400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr11:55120800-55121800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:55120800-55122200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:55121200-55121600	Enhancers	Brain Hippocampus Middle	brain
7	chr11:55124200-55124400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr11:55149400-55149800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr11:55168200-55169000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:55170600-55173200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr11:55190600-55191200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr11:55215800-55222400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr11:55225400-55225800	Active TSS	HSMMtube	muscle
14	chr11:55225800-55227600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr11:55227400-55227800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr11:55243200-55243600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr11:55260600-55262800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr11:55263400-55263600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
19	chr11:55268600-55270400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:55269600-55277400	Weak transcription	Pancreas	Pancrea
21	chr11:55277400-55277800	ZNF genes & repeats	Pancreas	Pancrea
22	chr11:55277400-55278000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr11:55282000-55282400	Active TSS	Fetal Heart	heart
24	chr11:55312200-55315800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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