Variant report

Variant	nsv1050725
Chromosome Location	chr11:18957721-18979117
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:306)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 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	chr11:18965116-18965409	K562	blood:	n/a	n/a
3	CEBPB	chr11:18977944-18978151	A549	lung:	n/a	n/a
4	CEBPD	chr11:18965149-18965591	K562	blood:	n/a	n/a
5	CTCF	chr11:18973975-18974019	LNCaP	prostate:	n/a	n/a
6	CTCF	chr11:18964083-18964146	GM10248	blood:	n/a	n/a
7	CTCF	chr11:18973940-18974063	Kidney_OC	kidney:	n/a	n/a
8	E2F4	chr11:18957940-18958060	MCF10A-Er-Src	breast:	n/a	n/a
9	EGR1	chr11:18978030-18978291	K562	blood:	n/a	chr11:18978156-18978165 chr11:18978153-18978166 chr11:18978153-18978166 chr11:18978156-18978166 chr11:18978153-18978166
10	EGR1	chr11:18978084-18978269	K562	blood:	n/a	chr11:18978156-18978165 chr11:18978153-18978166 chr11:18978153-18978166 chr11:18978156-18978166 chr11:18978153-18978166
11	EGR1	chr11:18961852-18962016	K562	blood:	n/a	n/a
12	FOS	chr11:18974670-18974809	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr11:18974580-18974780	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	IRF1	chr11:18963394-18963454	K562	blood:	n/a	n/a
17	JUND	chr11:18957931-18958074	H1-hESC	embryonic stem cell:	n/a	n/a
18	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
19	MAX	chr11:18976979-18976990	NB4	blood:	n/a	n/a
20	MAX	chr11:18957858-18958209	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr11:18959978-18959996	Hela-S3	cervix:	n/a	n/a
22	MYC	chr11:18965167-18965422	K562	blood:	n/a	n/a
23	MYC	chr11:18957591-18958062	H1-hESC	embryonic stem cell:	n/a	n/a
24	NR2F2	chr11:18965151-18965477	K562	blood:	n/a	n/a
25	POLR2A	chr11:18958022-18958088	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr11:18973149-18973510	H1-neurons	neurons:	n/a	n/a
27	POLR2A	chr11:18964857-18964881	Gliobla	brain:	n/a	n/a
28	POLR2A	chr11:18965158-18965613	A549	lung:	n/a	n/a
29	POLR2A	chr11:18958131-18958152	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr11:18957929-18958117	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr11:18976074-18976153	Gliobla	brain:	n/a	n/a
32	POLR2A	chr11:18964809-18964826	Gliobla	brain:	n/a	n/a
33	POLR2A	chr11:18964590-18964743	A549	lung:	n/a	n/a
34	POLR2A	chr11:18965055-18965585	K562	blood:	n/a	n/a
35	POLR2A	chr11:18965348-18965446	MCF-7	breast:	n/a	n/a
36	RAD21	chr11:18957775-18958206	H1-hESC	embryonic stem cell:	n/a	chr11:18958017-18958026
37	RCOR1	chr11:18978171-18978455	K562	blood:	n/a	n/a
38	RFX5	chr11:18960669-18960775	K562	blood:	n/a	n/a
39	SP1	chr11:18957709-18958201	H1-hESC	embryonic stem cell:	n/a	n/a
40	SP1	chr11:18957729-18958222	H1-hESC	embryonic stem cell:	n/a	n/a
41	SPI1	chr11:18978181-18978437	K562	blood:	n/a	chr11:18978334-18978347 chr11:18978337-18978346 chr11:18978335-18978348 chr11:18978338-18978345 chr11:18978334-18978347
42	SPI1	chr11:18978197-18978498	K562	blood:	n/a	chr11:18978334-18978347 chr11:18978337-18978346 chr11:18978335-18978348 chr11:18978338-18978345 chr11:18978334-18978347
43	STAT3	chr11:18975681-18975706	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT3	chr11:18961076-18961119	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT5A	chr11:18965000-18965595	K562	blood:	n/a	n/a
46	TBL1XR1	chr11:18958841-18958886	K562	blood:	n/a	n/a
47	TBL1XR1	chr11:18960317-18960325	K562	blood:	n/a	n/a
48	TCF12	chr11:18957875-18958152	H1-hESC	embryonic stem cell:	n/a	n/a
49	TEAD4	chr11:18957775-18958212	H1-hESC	embryonic stem cell:	n/a	n/a
50	TEAD4	chr11:18957736-18958313	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	chr11:18978169-18978219	HRCEpiC	kidney:	n/a
2	chr11:18978169-18978219	HRCEpiC	kidney:	n/a
3	chr11:18978218-18978268	GM19239	blood:	n/a
4	chr11:18978157-18978207	HepG2	liver:	n/a
5	chr11:18957755-18957805	AG04449	skin:	fetal
6	chr11:18978157-18978207	SK-N-MC	brain:	n/a
7	chr11:18978157-18978207	AG04450	lung:	fetal
8	chr11:18978157-18978207	HCM	heart:	n/a
9	chr11:18978157-18978207	HCF	heart:	n/a
10	chr11:18978391-18978441	T-47D	breast:	n/a
11	chr11:18978157-18978207	HRE	kidney:	n/a
12	chr11:18978391-18978441	Jurkat	blood:	n/a
13	chr11:18978169-18978219	HNPCEpiC	eye:	n/a
14	chr11:18957755-18957805	HMEC	breast:	n/a
15	chr11:18978218-18978268	Jurkat	blood:	n/a
16	chr11:18957755-18957805	U87	brain:	n/a
17	chr11:18978157-18978207	GM12878	blood:	n/a
18	chr11:18978218-18978268	ECC-1	luminal epithelium:	n/a
19	chr11:18957755-18957805	SK-N-MC	brain:	n/a
20	chr11:18978169-18978219	Hela-S3	cervix:	n/a
21	chr11:18978169-18978219	BE2_C	brain:	n/a
22	chr11:18978169-18978219	GM12891	blood:	n/a
23	chr11:18957755-18957805	SK-N-SH_RA	brain:	n/a
24	chr11:18978391-18978441	AG04449	skin:	fetal
25	chr11:18978157-18978207	Hepatocyte	liver:	n/a
26	chr11:18978157-18978207	NB4	blood:	n/a
27	chr11:18978218-18978268	PrEC	prostate:	n/a
28	chr11:18957755-18957805	HRPEpiC	eye:	n/a
29	chr11:18978391-18978441	ECC-1	luminal epithelium:	n/a
30	chr11:18978391-18978441	AG09319	gingival:	n/a
31	chr11:18978157-18978207	AG09309	skin:	n/a
32	chr11:18957755-18957805	HPAEpiC	pulmonary alveolar:	n/a
33	chr11:18978391-18978441	SAEC	small airway:	n/a
34	chr11:18978218-18978268	HEEpiC	esophagus:	n/a
35	chr11:18957755-18957805	LNCaP	prostate:	n/a
36	chr11:18957755-18957805	NT2-D1	testis:	n/a
37	chr11:18978218-18978268	HL-60	blood:	n/a
38	chr11:18978169-18978219	PrEC	prostate:	n/a
39	chr11:18957755-18957805	T-47D	breast:	n/a
40	chr11:18978218-18978268	H1-hESC	embryonic stem cell:	embryo
41	chr11:18978218-18978268	BE2_C	brain:	n/a
42	chr11:18978157-18978207	AoSMC	blood vessel:	n/a
43	chr11:18978391-18978441	BJ	skin:	n/a
44	chr11:18978169-18978219	Caco-2	colon:	n/a
45	chr11:18978391-18978441	HRCEpiC	kidney:	n/a
46	chr11:18978169-18978219	ovcar-3	ovarian:	n/a
47	chr11:18978391-18978441	NH-A	brain:	n/a
48	chr11:18978169-18978219	AoSMC	blood vessel:	n/a
49	chr11:18978391-18978441	HEEpiC	esophagus:	n/a
50	chr11:18957755-18957805	AG09319	gingival:	n/a

No data

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

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

No data

Variant related genes	Relation type
MRGPRX1	TF binding region
ENSG00000254738	TF binding region
MRGPRX1	CpG island
ENSG00000254738	CpG island

Extended variants
information (count: 316 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570481161	chr11:18957756-18957757	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs549228466	chr11:18957804-18957805	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs72890001	chr11:18957808-18957809	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs144320710	chr11:18957828-18957829	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs557374856	chr11:18957836-18957837	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs370789004	chr11:18957845-18957846	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs539393098	chr11:18957846-18957847	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs188909974	chr11:18957874-18957875	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs1872021	chr11:18957886-18957887	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs369993164	chr11:18957915-18957916	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs373522256	chr11:18957922-18957923	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs193105584	chr11:18957931-18957932	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs558489055	chr11:18957942-18957943	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs182098521	chr11:18958002-18958003	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs186779928	chr11:18958015-18958016	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs191583231	chr11:18958077-18958078	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs562648390	chr11:18958161-18958162	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs7126195	chr11:18958175-18958176	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs542091091	chr11:18958277-18958278	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs184105617	chr11:18958285-18958286	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs527415140	chr11:18958311-18958312	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs552325648	chr11:18958317-18958318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79541684	chr11:18958329-18958330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531219980	chr11:18958359-18958360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551247775	chr11:18958400-18958401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141228349	chr11:18958401-18958402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370352852	chr11:18958403-18958404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200574668	chr11:18958415-18958416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189707691	chr11:18958469-18958470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566737534	chr11:18958519-18958520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534001916	chr11:18958578-18958579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs193055841	chr11:18958603-18958604	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs371008734	chr11:18958605-18958606	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs112559804	chr11:18958610-18958611	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs577126639	chr11:18958652-18958653	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs7126787	chr11:18958667-18958668	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs547240031	chr11:18958669-18958670	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs556417376	chr11:18958711-18958712	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs574669358	chr11:18958719-18958720	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs12291842	chr11:18958739-18958740	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs1825288	chr11:18958740-18958741	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs572276394	chr11:18958745-18958746	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs536664274	chr11:18958755-18958756	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs36027473	chr11:18958763-18958764	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs375650647	chr11:18958789-18958790	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs555659462	chr11:18958809-18958810	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs4237738	chr11:18958811-18958812	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs145707813	chr11:18958817-18958818	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs374269725	chr11:18958838-18958839	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs534966623	chr11:18958840-18958841	Enhancers Bivalent Enhancer	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18956400-18957800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:18956400-18958000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:18957200-18959400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:18957400-18958400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr11:18957400-18958400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr11:18957400-18958600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:18957400-18958600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr11:18957400-18959200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:18957400-18959200	Enhancers	NHEK	skin
10	chr11:18957600-18958200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr11:18957600-18958200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr11:18957600-18958200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:18957600-18958400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:18957600-18958400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr11:18957600-18958400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr11:18957800-18958200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr11:18957800-18958800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:18958000-18958200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:18958600-18959400	Bivalent Enhancer	HMEC	breast
20	chr11:18974400-18974800	Enhancers	NHEK	skin
21	chr11:18974600-18975000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:18974600-18975000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:18974800-18979400	Weak transcription	NHEK	skin
24	chr11:18975000-18979600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:18978600-18979000	Enhancers	H9 Cell Line	embryonic stem cell
26	chr11:18979000-18979400	Weak transcription	H9 Cell Line	embryonic stem cell

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