Variant report

Variant	esv1817764
Chromosome Location	chr11:18937433-18964248
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:93)
CpG islands
(count:306)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:93 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:18943007-18943263	K562	blood:	n/a	n/a
2	CEBPB	chr11:18946494-18946596	HepG2	liver:	n/a	chr11:18946576-18946587
3	CEBPD	chr11:18942867-18943456	K562	blood:	n/a	n/a
4	CTCF	chr11:18949220-18949370	HMEC	breast:	n/a	n/a
5	CTCF	chr11:18951819-18951855	Fibrobl	skin:	n/a	n/a
6	CTCF	chr11:18949226-18949297	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr11:18949160-18949310	NHEK	skin:	n/a	n/a
8	CTCF	chr11:18949082-18949341	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr11:18952280-18952430	HMF	breast:	n/a	n/a
10	CTCF	chr11:18964083-18964146	GM10248	blood:	n/a	n/a
11	CTCF	chr11:18944630-18944650	GM20000	blood:	n/a	n/a
12	CTCF	chr11:18943965-18943999	LNCaP	prostate:	n/a	n/a
13	CTCF	chr11:18949140-18949290	HPAF	blood vessel:	n/a	n/a
14	CTCF	chr11:18949160-18949310	HMEC	breast:	n/a	n/a
15	CTCF	chr11:18949060-18949210	RPTEC	kidney:	n/a	n/a
16	CTCF	chr11:18944088-18944127	GM20000	blood:	n/a	n/a
17	CTCF	chr11:18949060-18949210	NHEK	skin:	n/a	n/a
18	CTCF	chr11:18949130-18949280	K562	blood:	n/a	n/a
19	CTCF	chr11:18949200-18949350	HEEpiC	esophagus:	n/a	n/a
20	CTCF	chr11:18949100-18949250	RPTEC	kidney:	n/a	n/a
21	E2F4	chr11:18940787-18941074	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F4	chr11:18949193-18949402	MCF10A-Er-Src	breast:	n/a	n/a
23	E2F4	chr11:18957940-18958060	MCF10A-Er-Src	breast:	n/a	n/a
24	EBF1	chr11:18941547-18941798	GM12878	blood:	n/a	chr11:18941708-18941719
25	EBF1	chr11:18941539-18941924	GM12878	blood:	n/a	chr11:18941708-18941719
26	EBF1	chr11:18941597-18941799	GM12878	blood:	n/a	chr11:18941708-18941719
27	EGR1	chr11:18961852-18962016	K562	blood:	n/a	n/a
28	EP300	chr11:18949205-18949321	K562	blood:	n/a	n/a
29	FOS	chr11:18949209-18949453	MCF10A-Er-Src	breast:	n/a	n/a
30	GATA2	chr11:18943647-18943785	SH-SY5Y	brain:	n/a	n/a
31	GATA2	chr11:18942864-18943405	K562	blood:	n/a	n/a
32	GATA3	chr11:18954250-18955270	SH-SY5Y	brain:	n/a	chr11:18954446-18954455
33	IRF1	chr11:18963394-18963454	K562	blood:	n/a	n/a
34	IRF1	chr11:18944314-18944316	K562	blood:	n/a	n/a
35	JUN	chr11:18949699-18949890	K562	blood:	n/a	n/a
36	JUND	chr11:18957931-18958074	H1-hESC	embryonic stem cell:	n/a	n/a
37	JUND	chr11:18951523-18951631	HepG2	liver:	n/a	chr11:18951599-18951608
38	MAFK	chr11:18957407-18957544	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAFK	chr11:18947955-18948052	HepG2	liver:	n/a	n/a
40	MAFK	chr11:18957236-18957409	HepG2	liver:	n/a	chr11:18957344-18957364 chr11:18957343-18957358
41	MAFK	chr11:18957332-18957376	HepG2	liver:	n/a	chr11:18957344-18957364 chr11:18957343-18957358
42	MAFK	chr11:18940601-18940886	HepG2	liver:	n/a	n/a
43	MAX	chr11:18959978-18959996	Hela-S3	cervix:	n/a	n/a
44	MAX	chr11:18957858-18958209	H1-hESC	embryonic stem cell:	n/a	n/a
45	MXI1	chr11:18949266-18949311	H1-hESC	embryonic stem cell:	n/a	n/a
46	MYC	chr11:18955852-18955974	MCF-7	breast:	n/a	n/a
47	MYC	chr11:18942506-18942514	MCF-7	breast:	n/a	n/a
48	MYC	chr11:18943309-18943412	H1-hESC	embryonic stem cell:	n/a	n/a
49	MYC	chr11:18943031-18943275	K562	blood:	n/a	n/a
50	MYC	chr11:18957591-18958062	H1-hESC	embryonic stem cell:	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	HCM	heart:	n/a
2	chr11:18957755-18957805	HCM	heart:	n/a
3	chr11:18955977-18956027	PrEC	prostate:	n/a
4	chr11:18956283-18956333	MCF10A-Er-Src	breast:	n/a
5	chr11:18956637-18956687	ovcar-3	ovarian:	n/a
6	chr11:18955977-18956027	Jurkat	blood:	n/a
7	chr11:18957755-18957805	AG04449	skin:	fetal
8	chr11:18956196-18956246	NHDF-neo	bronchial:	n/a
9	chr11:18956637-18956687	GM06990	blood:	n/a
10	chr11:18955977-18956027	HNPCEpiC	eye:	n/a
11	chr11:18956283-18956333	HCF	heart:	n/a
12	chr11:18957755-18957805	HRE	kidney:	n/a
13	chr11:18957755-18957805	K562	blood:	n/a
14	chr11:18955977-18956027	SK-N-SH_RA	brain:	n/a
15	chr11:18956637-18956687	SK-N-SH	brain:	n/a
16	chr11:18956283-18956333	MCF-7	breast:	n/a
17	chr11:18956283-18956333	AG04449	skin:	fetal
18	chr11:18956283-18956333	BE2_C	brain:	n/a
19	chr11:18956283-18956333	HRE	kidney:	n/a
20	chr11:18956196-18956246	Hepatocyte	liver:	n/a
21	chr11:18956283-18956333	AG04450	lung:	fetal
22	chr11:18955977-18956027	AG04450	lung:	fetal
23	chr11:18956637-18956687	SK-N-MC	brain:	n/a
24	chr11:18956196-18956246	K562	blood:	n/a
25	chr11:18955977-18956027	AoSMC	blood vessel:	n/a
26	chr11:18957755-18957805	T-47D	breast:	n/a
27	chr11:18957755-18957805	SK-N-SH_RA	brain:	n/a
28	chr11:18955977-18956027	HAEpiC	amniotic membrane:	n/a
29	chr11:18956637-18956687	SK-N-SH_RA	brain:	n/a
30	chr11:18956637-18956687	Hepatocyte	liver:	n/a
31	chr11:18955977-18956027	BJ	skin:	n/a
32	chr11:18955977-18956027	HIPEpiC	eye:	n/a
33	chr11:18956283-18956333	NH-A	brain:	n/a
34	chr11:18956196-18956246	GM12892	blood:	n/a
35	chr11:18956637-18956687	PFSK-1	brain:	n/a
36	chr11:18956196-18956246	NT2-D1	testis:	n/a
37	chr11:18956637-18956687	HRCEpiC	kidney:	n/a
38	chr11:18956637-18956687	GM12891	blood:	n/a
39	chr11:18956196-18956246	H1-hESC	embryonic stem cell:	embryo
40	chr11:18956196-18956246	GM19239	blood:	n/a
41	chr11:18957755-18957805	HRCEpiC	kidney:	n/a
42	chr11:18956637-18956687	ProgFib	skin:	n/a
43	chr11:18956637-18956687	NT2-D1	testis:	n/a
44	chr11:18956283-18956333	SKMC	muscle:	n/a
45	chr11:18956637-18956687	RPTEC	kidney:	n/a
46	chr11:18956637-18956687	GM19239	blood:	n/a
47	chr11:18955977-18956027	PFSK-1	brain:	n/a
48	chr11:18956637-18956687	NHDF-neo	bronchial:	n/a
49	chr11:18956637-18956687	AG10803	skin:	n/a
50	chr11:18956196-18956246	LNCaP	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18948757..18949726-chr11:19092570..19093333,3	MCF-7	breast:
2	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	chr11:18960852-18961268	ENSG00000255244.1
2	lnc-ZDHHC13-2	chr11:18956532-18956821	ENSG00000255244.1

No data

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

Extended variants
information (count: 582 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:582 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369046265	chr11:18946640-18946641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575060943	chr11:18946699-18946700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372660807	chr11:18946704-18946705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117091579	chr11:18946756-18946757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554198360	chr11:18946759-18946760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572898931	chr11:18946795-18946796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147837820	chr11:18946837-18946838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564764479	chr11:18946867-18946868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111658318	chr11:18946883-18946884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545691006	chr11:18946931-18946932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563988736	chr11:18946953-18946954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531077321	chr11:18946990-18946991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146996158	chr11:18947009-18947010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561356308	chr11:18947049-18947050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138092367	chr11:18947089-18947090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184651776	chr11:18947183-18947184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571523576	chr11:18947240-18947241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11517776	chr11:18947246-18947247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189437731	chr11:18947252-18947253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150210562	chr11:18947305-18947306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376688552	chr11:18947306-18947307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554384415	chr11:18947366-18947367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566549570	chr11:18947428-18947429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180770448	chr11:18947468-18947469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558643394	chr11:18947517-18947518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532089352	chr11:18947521-18947522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550310390	chr11:18947546-18947547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576731141	chr11:18947576-18947577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184544090	chr11:18947595-18947596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557683165	chr11:18947597-18947598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576045949	chr11:18947618-18947619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138733818	chr11:18947636-18947637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149338659	chr11:18947637-18947638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528705771	chr11:18947669-18947670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189420286	chr11:18947695-18947696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181391506	chr11:18947718-18947719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548115866	chr11:18947732-18947733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186505576	chr11:18947754-18947755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550609908	chr11:18947765-18947766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115628249	chr11:18947780-18947781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529971899	chr11:18947796-18947797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7102163	chr11:18947798-18947799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs570867965	chr11:18947843-18947844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190563665	chr11:18947877-18947878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534008784	chr11:18947906-18947907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138500838	chr11:18947918-18947919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143053987	chr11:18947923-18947924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537829050	chr11:18947925-18947926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556226939	chr11:18947928-18947929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377276509	chr11:18947948-18947949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18946600-18947000	Enhancers	NHEK	skin
2	chr11:18947000-18949000	Weak transcription	NHEK	skin
3	chr11:18949000-18949800	Enhancers	NHEK	skin
4	chr11:18951200-18951400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:18951600-18952800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:18952800-18953400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:18953400-18955200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:18954600-18955400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr11:18955200-18955600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:18955600-18956400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:18955600-18956800	Enhancers	Spleen	Spleen
12	chr11:18955800-18956000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:18955800-18956400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:18955800-18956600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr11:18956200-18956400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:18956400-18957800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:18956400-18958000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:18957200-18959400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:18957400-18958400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr11:18957400-18958400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr11:18957400-18958600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:18957400-18958600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr11:18957400-18959200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:18957400-18959200	Enhancers	NHEK	skin
25	chr11:18957600-18958200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr11:18957600-18958200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr11:18957600-18958200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:18957600-18958400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:18957600-18958400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr11:18957600-18958400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr11:18957800-18958200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr11:18957800-18958800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:18958000-18958200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:18958600-18959400	Bivalent Enhancer	HMEC	breast

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