Variant report

Variant	esv2750988
Chromosome Location	chr11:18903604-18961679
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:156)
CpG islands
(count:306)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:156 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:18946494-18946596	HepG2	liver:	n/a	chr11:18946576-18946587
2	CEBPB	chr11:18943007-18943263	K562	blood:	n/a	n/a
3	CEBPD	chr11:18942867-18943456	K562	blood:	n/a	n/a
4	CTCF	chr11:18912260-18912410	MCF-7	breast:	n/a	n/a
5	CTCF	chr11:18944630-18944650	GM20000	blood:	n/a	n/a
6	CTCF	chr11:18912305-18912431	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr11:18912280-18912430	RPTEC	kidney:	n/a	n/a
8	CTCF	chr11:18912320-18912470	MCF-7	breast:	n/a	n/a
9	CTCF	chr11:18912320-18912470	Caco-2	colon:	n/a	n/a
10	CTCF	chr11:18952280-18952430	HMF	breast:	n/a	n/a
11	CTCF	chr11:18949226-18949297	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr11:18912260-18912410	Caco-2	colon:	n/a	n/a
13	CTCF	chr11:18949140-18949290	HPAF	blood vessel:	n/a	n/a
14	CTCF	chr11:18949200-18949350	HEEpiC	esophagus:	n/a	n/a
15	CTCF	chr11:18912140-18912290	HCT-116	colon:	n/a	n/a
16	CTCF	chr11:18949160-18949310	HMEC	breast:	n/a	n/a
17	CTCF	chr11:18915764-18915770	GM10248	blood:	n/a	n/a
18	CTCF	chr11:18949220-18949370	HMEC	breast:	n/a	n/a
19	CTCF	chr11:18912345-18912389	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr11:18912179-18912483	MCF-7	breast:	n/a	n/a
21	CTCF	chr11:18951819-18951855	Fibrobl	skin:	n/a	n/a
22	CTCF	chr11:18943965-18943999	LNCaP	prostate:	n/a	n/a
23	CTCF	chr11:18912314-18912425	NHEK	skin:	n/a	n/a
24	CTCF	chr11:18912280-18912430	A549	lung:	n/a	n/a
25	CTCF	chr11:18949160-18949310	NHEK	skin:	n/a	n/a
26	CTCF	chr11:18912302-18912431	MCF-7	breast:	n/a	n/a
27	CTCF	chr11:18949060-18949210	NHEK	skin:	n/a	n/a
28	CTCF	chr11:18912280-18912430	HepG2	liver:	n/a	n/a
29	CTCF	chr11:18912322-18912400	MCF-7	breast:	n/a	n/a
30	CTCF	chr11:18949082-18949341	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr11:18944088-18944127	GM20000	blood:	n/a	n/a
32	CTCF	chr11:18912387-18912391	GM19239	blood:	n/a	n/a
33	CTCF	chr11:18949060-18949210	RPTEC	kidney:	n/a	n/a
34	CTCF	chr11:18912200-18912350	NHEK	skin:	n/a	n/a
35	CTCF	chr11:18912340-18912490	HEK293	kidney:	n/a	n/a
36	CTCF	chr11:18912287-18912437	MCF-7	breast:	n/a	n/a
37	CTCF	chr11:18912240-18912390	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr11:18912260-18912410	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr11:18949100-18949250	RPTEC	kidney:	n/a	n/a
40	CTCF	chr11:18912305-18912426	MCF-7	breast:	n/a	n/a
41	CTCF	chr11:18949130-18949280	K562	blood:	n/a	n/a
42	CTCF	chr11:18912319-18912427	MCF-7	breast:	n/a	n/a
43	E2F4	chr11:18957940-18958060	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr11:18940787-18941074	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr11:18949193-18949402	MCF10A-Er-Src	breast:	n/a	n/a
46	EBF1	chr11:18941597-18941799	GM12878	blood:	n/a	chr11:18941708-18941719
47	EBF1	chr11:18941539-18941924	GM12878	blood:	n/a	chr11:18941708-18941719
48	EBF1	chr11:18941547-18941798	GM12878	blood:	n/a	chr11:18941708-18941719
49	EP300	chr11:18949205-18949321	K562	blood:	n/a	n/a
50	FOS	chr11:18949209-18949453	MCF10A-Er-Src	breast:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:18957755-18957805	HMEC	breast:	n/a
2	chr11:18957755-18957805	HMEC	breast:	n/a
3	chr11:18956196-18956246	AG09319	gingival:	n/a
4	chr11:18956196-18956246	ovcar-3	ovarian:	n/a
5	chr11:18956196-18956246	AG04449	skin:	fetal
6	chr11:18956196-18956246	ECC-1	luminal epithelium:	n/a
7	chr11:18955977-18956027	NH-A	brain:	n/a
8	chr11:18957755-18957805	BJ	skin:	n/a
9	chr11:18957755-18957805	SKMC	muscle:	n/a
10	chr11:18956283-18956333	HRPEpiC	eye:	n/a
11	chr11:18955977-18956027	A549	lung:	n/a
12	chr11:18957755-18957805	PrEC	prostate:	n/a
13	chr11:18957755-18957805	SK-N-MC	brain:	n/a
14	chr11:18956283-18956333	BJ	skin:	n/a
15	chr11:18956196-18956246	SAEC	small airway:	n/a
16	chr11:18957755-18957805	GM12891	blood:	n/a
17	chr11:18956283-18956333	AG04450	lung:	fetal
18	chr11:18956637-18956687	T-47D	breast:	n/a
19	chr11:18956196-18956246	HEEpiC	esophagus:	n/a
20	chr11:18956283-18956333	A549	lung:	n/a
21	chr11:18955977-18956027	HAEpiC	amniotic membrane:	n/a
22	chr11:18956196-18956246	NHBE	bronchial:	n/a
23	chr11:18956196-18956246	NH-A	brain:	n/a
24	chr11:18955977-18956027	HRE	kidney:	n/a
25	chr11:18956196-18956246	GM06990	blood:	n/a
26	chr11:18957755-18957805	K562	blood:	n/a
27	chr11:18956196-18956246	K562	blood:	n/a
28	chr11:18956637-18956687	SK-N-SH	brain:	n/a
29	chr11:18956637-18956687	NB4	blood:	n/a
30	chr11:18956196-18956246	PrEC	prostate:	n/a
31	chr11:18956283-18956333	HNPCEpiC	eye:	n/a
32	chr11:18955977-18956027	SAEC	small airway:	n/a
33	chr11:18955977-18956027	T-47D	breast:	n/a
34	chr11:18956637-18956687	HUVEC	blood vessel:	n/a
35	chr11:18956637-18956687	IMR90	lung:	fetal
36	chr11:18957755-18957805	H1-hESC	embryonic stem cell:	embryo
37	chr11:18956196-18956246	NHDF-neo	bronchial:	n/a
38	chr11:18956283-18956333	U87	brain:	n/a
39	chr11:18957755-18957805	HNPCEpiC	eye:	n/a
40	chr11:18955977-18956027	ovcar-3	ovarian:	n/a
41	chr11:18955977-18956027	GM06990	blood:	n/a
42	chr11:18956283-18956333	HCM	heart:	n/a
43	chr11:18955977-18956027	AG09319	gingival:	n/a
44	chr11:18956637-18956687	SAEC	small airway:	n/a
45	chr11:18956637-18956687	Jurkat	blood:	n/a
46	chr11:18956196-18956246	HRE	kidney:	n/a
47	chr11:18956283-18956333	NT2-D1	testis:	n/a
48	chr11:18956283-18956333	GM12891	blood:	n/a
49	chr11:18956196-18956246	T-47D	breast:	n/a
50	chr11:18956637-18956687	HCM	heart:	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	chr11:18951880..18953861-chr11:18956190..18958282,2	K562	blood:
3	chr11:18898429..18900473-chr11:18904147..18906021,2	K562	blood:

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

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

No data

Variant related genes	Relation type
MRGPRX1	TF binding region
ENSG00000255536	TF binding region
ENSG00000254541	TF binding region
ENSG00000255244	TF binding region
MRGPRX1	CpG island
ENSG00000255536	CpG island
ENSG00000254541	CpG island
ENSG00000255244	CpG island
ENSG00000170255	chromatin interactions
ENSG00000255244	chromatin interactions

Extended variants
information (count: 1238 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1238 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535321907	chr11:18907618-18907619	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs554207299	chr11:18907623-18907624	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs144048938	chr11:18907624-18907625	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs113386394	chr11:18907646-18907647	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs552100386	chr11:18907673-18907674	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs563893100	chr11:18907746-18907747	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs531414292	chr11:18907757-18907758	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs146444755	chr11:18907806-18907807	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs149033765	chr11:18907817-18907818	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs77044176	chr11:18907826-18907827	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs566054843	chr11:18907877-18907878	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs79040869	chr11:18907909-18907910	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs562218001	chr11:18907913-18907914	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs189437674	chr11:18907918-18907919	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs564765138	chr11:18907920-18907921	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs151140291	chr11:18907933-18907934	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs577478837	chr11:18907986-18907987	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs538462982	chr11:18908017-18908018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140417702	chr11:18908038-18908039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558184712	chr11:18908075-18908076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180742881	chr11:18908098-18908099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76213258	chr11:18908105-18908106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185140515	chr11:18908118-18908119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572354041	chr11:18908140-18908141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147006187	chr11:18908144-18908145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564057539	chr11:18908154-18908155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11463212	chr11:18908196-18908197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs397689206	chr11:18908205-18908206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369565645	chr11:18908206-18908207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374604740	chr11:18908207-18908208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377710907	chr11:18908208-18908209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548102495	chr11:18908212-18908213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560125974	chr11:18908231-18908232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10734270	chr11:18908255-18908256	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs549546522	chr11:18908343-18908344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561771082	chr11:18908354-18908355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138130488	chr11:18908398-18908399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541280951	chr11:18908399-18908400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377261753	chr11:18908425-18908426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547176408	chr11:18908432-18908433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532050660	chr11:18908443-18908444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532972315	chr11:18908446-18908447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552874894	chr11:18908457-18908458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571137843	chr11:18908466-18908467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538573370	chr11:18908469-18908470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373692691	chr11:18908485-18908486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568609364	chr11:18908496-18908497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527399819	chr11:18908518-18908519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552119335	chr11:18908556-18908557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535898247	chr11:18908563-18908564	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Ollier disease	21235737	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18907600-18908000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:18908000-18908600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:18915200-18922000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:18918200-18919600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:18918400-18918600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:18919000-18919200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:18919200-18919600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:18919600-18920400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:18919600-18921400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:18920400-18921000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:18920800-18923000	Enhancers	HepG2	liver
12	chr11:18921000-18921800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:18921000-18922200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:18921000-18922200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr11:18921200-18922400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:18921200-18922400	Enhancers	HMEC	breast
17	chr11:18921200-18922600	Enhancers	NHEK	skin
18	chr11:18921400-18921600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr11:18921400-18921800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:18921400-18922400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:18921400-18922600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr11:18921800-18922200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:18921800-18922200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:18921800-18922400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr11:18922000-18922400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr11:18922000-18922400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr11:18922000-18922400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:18922000-18922600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:18922200-18922400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr11:18922200-18922600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:18922200-18922600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:18922200-18922800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:18922600-18923000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:18923000-18923200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:18923200-18924000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:18928800-18930400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:18929600-18930000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:18930000-18930200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:18930400-18930600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:18932000-18932600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:18934000-18934600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:18934200-18934400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:18934200-18934600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr11:18934400-18934800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr11:18946600-18947000	Enhancers	NHEK	skin
46	chr11:18947000-18949000	Weak transcription	NHEK	skin
47	chr11:18949000-18949800	Enhancers	NHEK	skin
48	chr11:18951200-18951400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:18951600-18952800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:18952800-18953400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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