Variant report

Variant	nsv975889
Chromosome Location	chr11:18926162-18995219
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:185)
CpG islands
(count:794)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:185 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:18985505-18985506	K562	blood:	n/a	n/a
2	CEBPB	chr11:18946494-18946596	HepG2	liver:	n/a	chr11:18946576-18946587
3	CEBPB	chr11:18970388-18970535	A549	lung:	n/a	n/a
4	CEBPB	chr11:18965116-18965409	K562	blood:	n/a	n/a
5	CEBPB	chr11:18977944-18978151	A549	lung:	n/a	n/a
6	CEBPB	chr11:18943007-18943263	K562	blood:	n/a	n/a
7	CEBPD	chr11:18942867-18943456	K562	blood:	n/a	n/a
8	CEBPD	chr11:18965149-18965591	K562	blood:	n/a	n/a
9	CHD2	chr11:18980168-18980255	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr11:18951819-18951855	Fibrobl	skin:	n/a	n/a
11	CTCF	chr11:18949200-18949350	HEEpiC	esophagus:	n/a	n/a
12	CTCF	chr11:18949160-18949310	HMEC	breast:	n/a	n/a
13	CTCF	chr11:18980222-18980312	ProgFib	skin:	n/a	n/a
14	CTCF	chr11:18980237-18980329	A549	lung:	n/a	n/a
15	CTCF	chr11:18949130-18949280	K562	blood:	n/a	n/a
16	CTCF	chr11:18944630-18944650	GM20000	blood:	n/a	n/a
17	CTCF	chr11:18949060-18949210	RPTEC	kidney:	n/a	n/a
18	CTCF	chr11:18949220-18949370	HMEC	breast:	n/a	n/a
19	CTCF	chr11:18973975-18974019	LNCaP	prostate:	n/a	n/a
20	CTCF	chr11:18980233-18980333	HepG2	liver:	n/a	n/a
21	CTCF	chr11:18989550-18989639	GM20000	blood:	n/a	n/a
22	CTCF	chr11:18980237-18980331	GM19240	blood:	n/a	n/a
23	CTCF	chr11:18980259-18980264	Fibrobl	skin:	n/a	n/a
24	CTCF	chr11:18949082-18949341	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr11:18980222-18980331	GM12891	blood:	n/a	n/a
26	CTCF	chr11:18980230-18980333	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr11:18980265-18980298	NHEK	skin:	n/a	n/a
28	CTCF	chr11:18980240-18980312	MCF-7	breast:	n/a	n/a
29	CTCF	chr11:18949160-18949310	NHEK	skin:	n/a	n/a
30	CTCF	chr11:18980219-18980331	GM19239	blood:	n/a	n/a
31	CTCF	chr11:18952280-18952430	HMF	breast:	n/a	n/a
32	CTCF	chr11:18943965-18943999	LNCaP	prostate:	n/a	n/a
33	CTCF	chr11:18944088-18944127	GM20000	blood:	n/a	n/a
34	CTCF	chr11:18980226-18980331	GM12892	blood:	n/a	n/a
35	CTCF	chr11:18949060-18949210	NHEK	skin:	n/a	n/a
36	CTCF	chr11:18980224-18980331	GM19238	blood:	n/a	n/a
37	CTCF	chr11:18949226-18949297	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr11:18980230-18980320	MCF-7	breast:	n/a	n/a
39	CTCF	chr11:18980239-18980330	K562	blood:	n/a	n/a
40	CTCF	chr11:18973940-18974063	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr11:18949140-18949290	HPAF	blood vessel:	n/a	n/a
42	CTCF	chr11:18949100-18949250	RPTEC	kidney:	n/a	n/a
43	CTCF	chr11:18964083-18964146	GM10248	blood:	n/a	n/a
44	CTCF	chr11:18980221-18980332	Gliobla	brain:	n/a	n/a
45	CTCF	chr11:18980266-18980292	Fibrobl	skin:	n/a	n/a
46	E2F4	chr11:18940787-18941074	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr11:18986196-18986375	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr11:18949193-18949402	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chr11:18957940-18958060	MCF10A-Er-Src	breast:	n/a	n/a
50	EBF1	chr11:18941539-18941924	GM12878	blood:	n/a	chr11:18941708-18941719

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:18993455-18993505	HCM	heart:	n/a
2	chr11:18993455-18993505	HCM	heart:	n/a
3	chr11:18978218-18978268	SKMC	muscle:	n/a
4	chr11:18978169-18978219	SAEC	small airway:	n/a
5	chr11:18955977-18956027	GM12891	blood:	n/a
6	chr11:18993891-18993941	NT2-D1	testis:	n/a
7	chr11:18955977-18956027	RPTEC	kidney:	n/a
8	chr11:18978157-18978207	ovcar-3	ovarian:	n/a
9	chr11:18993891-18993941	HMEC	breast:	n/a
10	chr11:18978169-18978219	T-47D	breast:	n/a
11	chr11:18993891-18993941	HCF	heart:	n/a
12	chr11:18978391-18978441	HNPCEpiC	eye:	n/a
13	chr11:18994080-18994130	HUVEC	blood vessel:	n/a
14	chr11:18993880-18993930	K562	blood:	n/a
15	chr11:18956196-18956246	HRE	kidney:	n/a
16	chr11:18978157-18978207	K562	blood:	n/a
17	chr11:18993455-18993505	IMR90	lung:	fetal
18	chr11:18993891-18993941	HPAEpiC	pulmonary alveolar:	n/a
19	chr11:18957755-18957805	PFSK-1	brain:	n/a
20	chr11:18993455-18993505	ECC-1	luminal epithelium:	n/a
21	chr11:18978169-18978219	ovcar-3	ovarian:	n/a
22	chr11:18993891-18993941	BJ	skin:	n/a
23	chr11:18956283-18956333	HCM	heart:	n/a
24	chr11:18978169-18978219	LNCaP	prostate:	n/a
25	chr11:18956283-18956333	GM19239	blood:	n/a
26	chr11:18956283-18956333	LNCaP	prostate:	n/a
27	chr11:18993880-18993930	AG04449	skin:	fetal
28	chr11:18955977-18956027	HEK293	kidney:	embryo
29	chr11:18994080-18994130	NT2-D1	testis:	n/a
30	chr11:18993455-18993505	ProgFib	skin:	n/a
31	chr11:18956637-18956687	A549	lung:	n/a
32	chr11:18994080-18994130	HRCEpiC	kidney:	n/a
33	chr11:18955977-18956027	NHDF-neo	bronchial:	n/a
34	chr11:18956196-18956246	HNPCEpiC	eye:	n/a
35	chr11:18957755-18957805	BE2_C	brain:	n/a
36	chr11:18956196-18956246	Jurkat	blood:	n/a
37	chr11:18956196-18956246	A549	lung:	n/a
38	chr11:18957755-18957805	AG04449	skin:	fetal
39	chr11:18956283-18956333	SK-N-SH	brain:	n/a
40	chr11:18993455-18993505	NHBE	bronchial:	n/a
41	chr11:18955977-18956027	SAEC	small airway:	n/a
42	chr11:18957755-18957805	HCPEpiC	choroid plexus:	n/a
43	chr11:18993891-18993941	SAEC	small airway:	n/a
44	chr11:18978391-18978441	HRE	kidney:	n/a
45	chr11:18993880-18993930	LNCaP	prostate:	n/a
46	chr11:18978169-18978219	HEK293	kidney:	embryo
47	chr11:18993891-18993941	U87	brain:	n/a
48	chr11:18955977-18956027	AG09309	skin:	n/a
49	chr11:18957755-18957805	AoSMC	blood vessel:	n/a
50	chr11:18994080-18994130	ProgFib	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:18948757..18949726-chr11:19092570..19093333,3	MCF-7	breast:
2	chr11:18993520..18994020-chr11:48120012..48120966,2	MCF-7	breast:
3	chr11:18951880..18953861-chr11:18956190..18958282,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZDHHC13-2	chr11:18956532-18956821	ENSG00000255244.1
2	lnc-ZDHHC13-2	chr11:18960852-18961268	ENSG00000255244.1

No data

Variant related genes	Relation type
ENSG00000255536	TF binding region
MRGPRX1	TF binding region
ENSG00000254738	TF binding region
ENSG00000255244	TF binding region
ENSG00000254720	TF binding region
ENSG00000255536	CpG island
MRGPRX1	CpG island
ENSG00000254738	CpG island
ENSG00000255244	CpG island
ENSG00000254720	CpG island
ENSG00000170255	chromatin interactions
ENSG00000255244	chromatin interactions

Extended variants
information (count: 1494 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1494 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532081083	chr11:18928822-18928823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550155994	chr11:18928834-18928835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34059717	chr11:18928874-18928875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568553327	chr11:18928888-18928889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189434158	chr11:18928920-18928921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113298686	chr11:18928932-18928933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537747155	chr11:18928947-18928948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567964754	chr11:18928972-18928973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534867209	chr11:18928977-18928978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553535691	chr11:18928979-18928980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180758893	chr11:18928990-18928991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539178695	chr11:18929009-18929010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112691808	chr11:18929065-18929066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576684257	chr11:18929156-18929157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575734420	chr11:18929221-18929222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543026596	chr11:18929226-18929227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs881504	chr11:18929269-18929270	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs573099918	chr11:18929293-18929294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540006153	chr11:18929311-18929312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1384648	chr11:18929432-18929433	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs116043901	chr11:18929464-18929465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548277338	chr11:18929467-18929468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114933382	chr11:18929504-18929505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs118091291	chr11:18929551-18929552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184407705	chr11:18929562-18929563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548179621	chr11:18929571-18929572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567818356	chr11:18929604-18929605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535378599	chr11:18929650-18929651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373685920	chr11:18929685-18929686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566947085	chr11:18929711-18929712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556080822	chr11:18929754-18929755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527316389	chr11:18929764-18929765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557459272	chr11:18929773-18929774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs386751205	chr11:18929802-18929803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs958061	chr11:18929815-18929816	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs189692928	chr11:18929830-18929831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573049349	chr11:18929835-18929836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540559499	chr11:18929853-18929854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564721489	chr11:18929860-18929861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181292797	chr11:18929872-18929873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531362308	chr11:18929996-18929997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549710816	chr11:18930028-18930029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113462244	chr11:18930048-18930049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185885413	chr11:18930055-18930056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529800621	chr11:18930074-18930075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547875571	chr11:18930075-18930076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560136622	chr11:18930099-18930100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146033664	chr11:18930112-18930113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547302125	chr11:18930158-18930159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372424915	chr11:18930198-18930199	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18928800-18930400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr11:18929600-18930000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:18930000-18930200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:18930400-18930600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:18932000-18932600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:18934000-18934600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:18934200-18934400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:18934200-18934600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr11:18934400-18934800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr11:18946600-18947000	Enhancers	NHEK	skin
11	chr11:18947000-18949000	Weak transcription	NHEK	skin
12	chr11:18949000-18949800	Enhancers	NHEK	skin
13	chr11:18951200-18951400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:18951600-18952800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:18952800-18953400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:18953400-18955200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:18954600-18955400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr11:18955200-18955600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:18955600-18956400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:18955600-18956800	Enhancers	Spleen	Spleen
21	chr11:18955800-18956000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:18955800-18956400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:18955800-18956600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr11:18956200-18956400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:18956400-18957800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:18956400-18958000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:18957200-18959400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:18957400-18958400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr11:18957400-18958400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr11:18957400-18958600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:18957400-18958600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr11:18957400-18959200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:18957400-18959200	Enhancers	NHEK	skin
34	chr11:18957600-18958200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr11:18957600-18958200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr11:18957600-18958200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:18957600-18958400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:18957600-18958400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr11:18957600-18958400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr11:18957800-18958200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr11:18957800-18958800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:18958000-18958200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:18958600-18959400	Bivalent Enhancer	HMEC	breast
44	chr11:18974400-18974800	Enhancers	NHEK	skin
45	chr11:18974600-18975000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:18974600-18975000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:18974800-18979400	Weak transcription	NHEK	skin
48	chr11:18975000-18979600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:18978600-18979000	Enhancers	H9 Cell Line	embryonic stem cell
50	chr11:18979000-18979400	Weak transcription	H9 Cell Line	embryonic stem cell

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