Variant report

Variant	nsv1054855
Chromosome Location	chr11:18954808-18978096
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:61 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:18970388-18970535	A549	lung:	n/a	n/a
2	CEBPB	chr11:18977944-18978151	A549	lung:	n/a	n/a
3	CEBPB	chr11:18965116-18965409	K562	blood:	n/a	n/a
4	CEBPD	chr11:18965149-18965591	K562	blood:	n/a	n/a
5	CTCF	chr11:18973940-18974063	Kidney_OC	kidney:	n/a	n/a
6	CTCF	chr11:18964083-18964146	GM10248	blood:	n/a	n/a
7	CTCF	chr11:18973975-18974019	LNCaP	prostate:	n/a	n/a
8	E2F4	chr11:18957940-18958060	MCF10A-Er-Src	breast:	n/a	n/a
9	EGR1	chr11:18978084-18978269	K562	blood:	n/a	chr11:18978156-18978165 chr11:18978153-18978166 chr11:18978153-18978166 chr11:18978156-18978166 chr11:18978153-18978166
10	EGR1	chr11:18961852-18962016	K562	blood:	n/a	n/a
11	EGR1	chr11:18978030-18978291	K562	blood:	n/a	chr11:18978156-18978165 chr11:18978153-18978166 chr11:18978153-18978166 chr11:18978156-18978166 chr11:18978153-18978166
12	FOS	chr11:18974580-18974780	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr11:18974670-18974809	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr11:18974664-18974881	MCF10A-Er-Src	breast:	n/a	n/a
15	GATA2	chr11:18965011-18965552	K562	blood:	n/a	n/a
16	GATA3	chr11:18954250-18955270	SH-SY5Y	brain:	n/a	chr11:18954446-18954455
17	IRF1	chr11:18963394-18963454	K562	blood:	n/a	n/a
18	JUND	chr11:18957931-18958074	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAFK	chr11:18957236-18957409	HepG2	liver:	n/a	chr11:18957344-18957364 chr11:18957343-18957358
20	MAFK	chr11:18957407-18957544	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAFK	chr11:18957332-18957376	HepG2	liver:	n/a	chr11:18957344-18957364 chr11:18957343-18957358
22	MAFK	chr11:18972802-18973052	HepG2	liver:	n/a	chr11:18972892-18972903 chr11:18972897-18972907 chr11:18972891-18972905 chr11:18972897-18972906 chr11:18972893-18972904 chr11:18972892-18972903
23	MAX	chr11:18957858-18958209	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr11:18976979-18976990	NB4	blood:	n/a	n/a
25	MAX	chr11:18959978-18959996	Hela-S3	cervix:	n/a	n/a
26	MYC	chr11:18955852-18955974	MCF-7	breast:	n/a	n/a
27	MYC	chr11:18957591-18958062	H1-hESC	embryonic stem cell:	n/a	n/a
28	MYC	chr11:18965167-18965422	K562	blood:	n/a	n/a
29	NR2F2	chr11:18965151-18965477	K562	blood:	n/a	n/a
30	POLR2A	chr11:18965348-18965446	MCF-7	breast:	n/a	n/a
31	POLR2A	chr11:18957929-18958117	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr11:18958022-18958088	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr11:18964809-18964826	Gliobla	brain:	n/a	n/a
34	POLR2A	chr11:18958131-18958152	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr11:18965158-18965613	A549	lung:	n/a	n/a
36	POLR2A	chr11:18973149-18973510	H1-neurons	neurons:	n/a	n/a
37	POLR2A	chr11:18976074-18976153	Gliobla	brain:	n/a	n/a
38	POLR2A	chr11:18955885-18955959	MCF-7	breast:	n/a	n/a
39	POLR2A	chr11:18964590-18964743	A549	lung:	n/a	n/a
40	POLR2A	chr11:18965055-18965585	K562	blood:	n/a	n/a
41	POLR2A	chr11:18964857-18964881	Gliobla	brain:	n/a	n/a
42	RAD21	chr11:18957775-18958206	H1-hESC	embryonic stem cell:	n/a	chr11:18958017-18958026
43	RFX5	chr11:18960669-18960775	K562	blood:	n/a	n/a
44	SP1	chr11:18957729-18958222	H1-hESC	embryonic stem cell:	n/a	n/a
45	SP1	chr11:18957709-18958201	H1-hESC	embryonic stem cell:	n/a	n/a
46	SPI1	chr11:18955860-18956317	HL-60	blood:	n/a	n/a
47	SPI1	chr11:18956029-18956200	K562	blood:	n/a	n/a
48	STAT3	chr11:18961076-18961119	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr11:18975681-18975706	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT5A	chr11:18965000-18965595	K562	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:18956637-18956687	AG09309	skin:	n/a
2	chr11:18956196-18956246	CMK	blood:	n/a
3	chr11:18956637-18956687	NB4	blood:	n/a
4	chr11:18956196-18956246	HCM	heart:	n/a
5	chr11:18956283-18956333	HepG2	liver:	n/a
6	chr11:18956283-18956333	GM19239	blood:	n/a
7	chr11:18956637-18956687	NH-A	brain:	n/a
8	chr11:18956283-18956333	SK-N-SH	brain:	n/a
9	chr11:18956637-18956687	SK-N-SH	brain:	n/a
10	chr11:18955977-18956027	NHDF-neo	bronchial:	n/a
11	chr11:18957755-18957805	NHBE	bronchial:	n/a
12	chr11:18955977-18956027	MCF-7	breast:	n/a
13	chr11:18956196-18956246	HL-60	blood:	n/a
14	chr11:18956283-18956333	NHDF-neo	bronchial:	n/a
15	chr11:18957755-18957805	PFSK-1	brain:	n/a
16	chr11:18955977-18956027	U87	brain:	n/a
17	chr11:18955977-18956027	GM12892	blood:	n/a
18	chr11:18956283-18956333	GM12892	blood:	n/a
19	chr11:18956196-18956246	BE2_C	brain:	n/a
20	chr11:18955977-18956027	MCF10A-Er-Src	breast:	n/a
21	chr11:18955977-18956027	ProgFib	skin:	n/a
22	chr11:18955977-18956027	HCT-116	colon:	n/a
23	chr11:18955977-18956027	ovcar-3	ovarian:	n/a
24	chr11:18956283-18956333	AG09309	skin:	n/a
25	chr11:18956283-18956333	GM12878	blood:	n/a
26	chr11:18956283-18956333	PFSK-1	brain:	n/a
27	chr11:18957755-18957805	ovcar-3	ovarian:	n/a
28	chr11:18955977-18956027	HRCEpiC	kidney:	n/a
29	chr11:18956637-18956687	SK-N-SH_RA	brain:	n/a
30	chr11:18956283-18956333	Hela-S3	cervix:	n/a
31	chr11:18956637-18956687	RPTEC	kidney:	n/a
32	chr11:18956637-18956687	NHBE	bronchial:	n/a
33	chr11:18956637-18956687	GM12892	blood:	n/a
34	chr11:18956637-18956687	PrEC	prostate:	n/a
35	chr11:18956637-18956687	HCM	heart:	n/a
36	chr11:18956196-18956246	U87	brain:	n/a
37	chr11:18956637-18956687	HRCEpiC	kidney:	n/a
38	chr11:18956283-18956333	BJ	skin:	n/a
39	chr11:18955977-18956027	HRE	kidney:	n/a
40	chr11:18957755-18957805	GM06990	blood:	n/a
41	chr11:18957755-18957805	AG09309	skin:	n/a
42	chr11:18955977-18956027	RPTEC	kidney:	n/a
43	chr11:18956196-18956246	HCPEpiC	choroid plexus:	n/a
44	chr11:18957755-18957805	NH-A	brain:	n/a
45	chr11:18956637-18956687	HCF	heart:	n/a
46	chr11:18957755-18957805	CMK	blood:	n/a
47	chr11:18956283-18956333	BE2_C	brain:	n/a
48	chr11:18956196-18956246	IMR90	lung:	fetal
49	chr11:18957755-18957805	IMR90	lung:	fetal
50	chr11:18956196-18956246	Hepatocyte	liver:	n/a

No data

(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
ENSG00000255244	TF binding region
MRGPRX1	CpG island
ENSG00000255244	CpG island

Extended variants
information (count: 460 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:460 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4756976	chr11:18954808-18954809	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561818339	chr11:18954827-18954828	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs150468732	chr11:18954835-18954836	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs376344853	chr11:18954872-18954873	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs573681362	chr11:18954895-18954896	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs117561166	chr11:18954909-18954910	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs541004752	chr11:18954917-18954918	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs541512332	chr11:18954925-18954926	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs370721697	chr11:18954929-18954930	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs372320155	chr11:18954986-18954987	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs558887239	chr11:18954988-18954989	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs532784506	chr11:18955016-18955017	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs552404686	chr11:18955089-18955090	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs565911277	chr11:18955092-18955093	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs146904176	chr11:18955133-18955134	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs564483507	chr11:18955137-18955138	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs531932948	chr11:18955143-18955144	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs550137164	chr11:18955165-18955166	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs568527889	chr11:18955166-18955167	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs535546137	chr11:18955182-18955183	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs547934176	chr11:18955226-18955227	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs566032338	chr11:18955238-18955239	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs539850750	chr11:18955252-18955253	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs558074364	chr11:18955262-18955263	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs576305559	chr11:18955272-18955273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377631306	chr11:18955280-18955281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537227196	chr11:18955296-18955297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531365840	chr11:18955299-18955300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188877691	chr11:18955315-18955316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377540221	chr11:18955317-18955318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369909163	chr11:18955339-18955340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372420387	chr11:18955356-18955357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573792870	chr11:18955358-18955359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs267602815	chr11:18955376-18955377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540739473	chr11:18955383-18955384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375703928	chr11:18955385-18955386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370442299	chr11:18955392-18955393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138752944	chr11:18955412-18955413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140371088	chr11:18955413-18955414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374955450	chr11:18955438-18955439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183845903	chr11:18955439-18955440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145586882	chr11:18955473-18955474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201456939	chr11:18955480-18955481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531949208	chr11:18955490-18955491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs137866403	chr11:18955513-18955514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138263314	chr11:18955515-18955516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376716433	chr11:18955517-18955518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150108666	chr11:18955550-18955551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371298921	chr11:18955561-18955562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368710591	chr11:18955603-18955604	Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18953400-18955200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:18954600-18955400	Enhancers	Placenta Amnion	Placenta Amnion
3	chr11:18955200-18955600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:18955600-18956400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:18955600-18956800	Enhancers	Spleen	Spleen
6	chr11:18955800-18956000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:18955800-18956400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:18955800-18956600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr11:18956200-18956400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:18956400-18957800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:18956400-18958000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:18957200-18959400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:18957400-18958400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr11:18957400-18958400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr11:18957400-18958600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:18957400-18958600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr11:18957400-18959200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:18957400-18959200	Enhancers	NHEK	skin
19	chr11:18957600-18958200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr11:18957600-18958200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr11:18957600-18958200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:18957600-18958400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:18957600-18958400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr11:18957600-18958400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr11:18957800-18958200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr11:18957800-18958800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:18958000-18958200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:18958600-18959400	Bivalent Enhancer	HMEC	breast
29	chr11:18974400-18974800	Enhancers	NHEK	skin
30	chr11:18974600-18975000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:18974600-18975000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:18974800-18979400	Weak transcription	NHEK	skin
33	chr11:18975000-18979600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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