Variant report

Variant	esv2753678
Chromosome Location	chr11:18950457-18978096
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:66)
CpG islands
(count:305)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:66 , 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	chr11:18952280-18952430	HMF	breast:	n/a	n/a
6	CTCF	chr11:18973940-18974063	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr11:18964083-18964146	GM10248	blood:	n/a	n/a
8	CTCF	chr11:18951819-18951855	Fibrobl	skin:	n/a	n/a
9	CTCF	chr11:18973975-18974019	LNCaP	prostate:	n/a	n/a
10	E2F4	chr11:18957940-18958060	MCF10A-Er-Src	breast:	n/a	n/a
11	EGR1	chr11:18961852-18962016	K562	blood:	n/a	n/a
12	EGR1	chr11:18978084-18978269	K562	blood:	n/a	chr11:18978156-18978165 chr11:18978153-18978166 chr11:18978153-18978166 chr11:18978156-18978166 chr11:18978153-18978166
13	EGR1	chr11:18978030-18978291	K562	blood:	n/a	chr11:18978156-18978165 chr11:18978153-18978166 chr11:18978153-18978166 chr11:18978156-18978166 chr11:18978153-18978166
14	FOS	chr11:18974664-18974881	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr11:18974670-18974809	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr11:18974580-18974780	MCF10A-Er-Src	breast:	n/a	n/a
17	GATA2	chr11:18965011-18965552	K562	blood:	n/a	n/a
18	GATA3	chr11:18954250-18955270	SH-SY5Y	brain:	n/a	chr11:18954446-18954455
19	IRF1	chr11:18963394-18963454	K562	blood:	n/a	n/a
20	JUND	chr11:18951523-18951631	HepG2	liver:	n/a	chr11:18951599-18951608
21	JUND	chr11:18957931-18958074	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAFK	chr11:18957332-18957376	HepG2	liver:	n/a	chr11:18957344-18957364 chr11:18957343-18957358
23	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
24	MAFK	chr11:18957407-18957544	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAFK	chr11:18957236-18957409	HepG2	liver:	n/a	chr11:18957344-18957364 chr11:18957343-18957358
26	MAX	chr11:18959978-18959996	Hela-S3	cervix:	n/a	n/a
27	MAX	chr11:18957858-18958209	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr11:18976979-18976990	NB4	blood:	n/a	n/a
29	MYC	chr11:18957591-18958062	H1-hESC	embryonic stem cell:	n/a	n/a
30	MYC	chr11:18955852-18955974	MCF-7	breast:	n/a	n/a
31	MYC	chr11:18965167-18965422	K562	blood:	n/a	n/a
32	NR2F2	chr11:18965151-18965477	K562	blood:	n/a	n/a
33	POLR2A	chr11:18976074-18976153	Gliobla	brain:	n/a	n/a
34	POLR2A	chr11:18957929-18958117	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr11:18965055-18965585	K562	blood:	n/a	n/a
36	POLR2A	chr11:18964590-18964743	A549	lung:	n/a	n/a
37	POLR2A	chr11:18955885-18955959	MCF-7	breast:	n/a	n/a
38	POLR2A	chr11:18951121-18951180	GM12878	blood:	n/a	n/a
39	POLR2A	chr11:18973149-18973510	H1-neurons	neurons:	n/a	n/a
40	POLR2A	chr11:18964857-18964881	Gliobla	brain:	n/a	n/a
41	POLR2A	chr11:18958022-18958088	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr11:18965158-18965613	A549	lung:	n/a	n/a
43	POLR2A	chr11:18958131-18958152	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr11:18964809-18964826	Gliobla	brain:	n/a	n/a
45	POLR2A	chr11:18965348-18965446	MCF-7	breast:	n/a	n/a
46	RAD21	chr11:18957775-18958206	H1-hESC	embryonic stem cell:	n/a	chr11:18958017-18958026
47	RFX5	chr11:18960669-18960775	K562	blood:	n/a	n/a
48	SP1	chr11:18957709-18958201	H1-hESC	embryonic stem cell:	n/a	n/a
49	SP1	chr11:18957729-18958222	H1-hESC	embryonic stem cell:	n/a	n/a
50	SPI1	chr11:18955860-18956317	HL-60	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	HNPCEpiC	eye:	n/a
2	chr11:18956283-18956333	MCF-7	breast:	n/a
3	chr11:18955977-18956027	HCPEpiC	choroid plexus:	n/a
4	chr11:18955977-18956027	RPTEC	kidney:	n/a
5	chr11:18956283-18956333	AG09309	skin:	n/a
6	chr11:18955977-18956027	HRCEpiC	kidney:	n/a
7	chr11:18956637-18956687	Hepatocyte	liver:	n/a
8	chr11:18957755-18957805	T-47D	breast:	n/a
9	chr11:18955977-18956027	SK-N-MC	brain:	n/a
10	chr11:18956283-18956333	AG09319	gingival:	n/a
11	chr11:18957755-18957805	GM12892	blood:	n/a
12	chr11:18955977-18956027	AG09319	gingival:	n/a
13	chr11:18956637-18956687	HMEC	breast:	n/a
14	chr11:18956196-18956246	K562	blood:	n/a
15	chr11:18956283-18956333	PFSK-1	brain:	n/a
16	chr11:18956637-18956687	MCF-7	breast:	n/a
17	chr11:18955977-18956027	AoSMC	blood vessel:	n/a
18	chr11:18956637-18956687	SK-N-SH	brain:	n/a
19	chr11:18957755-18957805	LNCaP	prostate:	n/a
20	chr11:18955977-18956027	NT2-D1	testis:	n/a
21	chr11:18957755-18957805	A549	lung:	n/a
22	chr11:18957755-18957805	HCT-116	colon:	n/a
23	chr11:18956283-18956333	CMK	blood:	n/a
24	chr11:18956283-18956333	GM12892	blood:	n/a
25	chr11:18957755-18957805	AoSMC	blood vessel:	n/a
26	chr11:18956283-18956333	MCF10A-Er-Src	breast:	n/a
27	chr11:18957755-18957805	GM06990	blood:	n/a
28	chr11:18955977-18956027	IMR90	lung:	fetal
29	chr11:18957755-18957805	HL-60	blood:	n/a
30	chr11:18956196-18956246	AG04450	lung:	fetal
31	chr11:18957755-18957805	SK-N-SH_RA	brain:	n/a
32	chr11:18956637-18956687	HL-60	blood:	n/a
33	chr11:18956196-18956246	NHDF-neo	bronchial:	n/a
34	chr11:18957755-18957805	HEK293	kidney:	embryo
35	chr11:18956196-18956246	HRCEpiC	kidney:	n/a
36	chr11:18956637-18956687	RPTEC	kidney:	n/a
37	chr11:18955977-18956027	PFSK-1	brain:	n/a
38	chr11:18955977-18956027	MCF-7	breast:	n/a
39	chr11:18956637-18956687	GM12891	blood:	n/a
40	chr11:18956196-18956246	BJ	skin:	n/a
41	chr11:18957755-18957805	RPTEC	kidney:	n/a
42	chr11:18955977-18956027	U87	brain:	n/a
43	chr11:18957755-18957805	SAEC	small airway:	n/a
44	chr11:18956283-18956333	T-47D	breast:	n/a
45	chr11:18957755-18957805	HPAEpiC	pulmonary alveolar:	n/a
46	chr11:18956283-18956333	LNCaP	prostate:	n/a
47	chr11:18956283-18956333	HEEpiC	esophagus:	n/a
48	chr11:18957755-18957805	U87	brain:	n/a
49	chr11:18955977-18956027	ovcar-3	ovarian:	n/a
50	chr11:18956196-18956246	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	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
MRGPRX1	TF binding region
ENSG00000255244	TF binding region
MRGPRX1	CpG island
ENSG00000255244	CpG island
ENSG00000255244	chromatin interactions
ENSG00000170255	chromatin interactions

Extended variants
information (count: 612 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567538576	chr11:18951217-18951218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74986637	chr11:18951229-18951230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553245294	chr11:18951251-18951252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577376076	chr11:18951332-18951333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34812593	chr11:18951347-18951348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1842907	chr11:18951373-18951374	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs556633486	chr11:18951387-18951388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368846578	chr11:18951392-18951393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542592855	chr11:18951396-18951397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34294552	chr11:18951400-18951401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370489286	chr11:18951566-18951567	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs184073375	chr11:18951578-18951579	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs533520268	chr11:18951593-18951594	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs545666663	chr11:18951594-18951595	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs34514569	chr11:18951649-18951650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563766135	chr11:18951660-18951661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531064756	chr11:18951685-18951686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549474838	chr11:18951691-18951692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533271657	chr11:18951706-18951707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555945642	chr11:18951751-18951752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528493238	chr11:18951796-18951797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574198966	chr11:18951803-18951804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546530100	chr11:18951831-18951832	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs115758202	chr11:18951851-18951852	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs10833019	chr11:18951869-18951870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs142740141	chr11:18951876-18951877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568589729	chr11:18951900-18951901	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs116994902	chr11:18951981-18951982	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs188756078	chr11:18952065-18952066	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs572710513	chr11:18952084-18952085	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs374994018	chr11:18952094-18952095	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs540228529	chr11:18952108-18952109	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs181485624	chr11:18952153-18952154	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs112472435	chr11:18952191-18952192	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs545605276	chr11:18952200-18952201	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs186126405	chr11:18952256-18952257	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs2015776	chr11:18952277-18952278	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs190843208	chr11:18952326-18952327	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs56106806	chr11:18952344-18952345	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs114213873	chr11:18952388-18952389	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs564418399	chr11:18952398-18952399	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs547011576	chr11:18952404-18952405	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs2015766	chr11:18952411-18952412	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs532300200	chr11:18952429-18952430	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs550483341	chr11:18952491-18952492	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs60873187	chr11:18952521-18952522	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs1961748	chr11:18952522-18952523	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs2015757	chr11:18952577-18952578	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs11822420	chr11:18952579-18952580	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs56191808	chr11:18952597-18952598	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18951200-18951400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:18951600-18952800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:18952800-18953400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:18953400-18955200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:18954600-18955400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr11:18955200-18955600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:18955600-18956400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:18955600-18956800	Enhancers	Spleen	Spleen
9	chr11:18955800-18956000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:18955800-18956400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:18955800-18956600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr11:18956200-18956400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:18956400-18957800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:18956400-18958000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:18957200-18959400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:18957400-18958400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr11:18957400-18958400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr11:18957400-18958600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:18957400-18958600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr11:18957400-18959200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:18957400-18959200	Enhancers	NHEK	skin
22	chr11:18957600-18958200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr11:18957600-18958200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr11:18957600-18958200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:18957600-18958400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:18957600-18958400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr11:18957600-18958400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr11:18957800-18958200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr11:18957800-18958800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:18958000-18958200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:18958600-18959400	Bivalent Enhancer	HMEC	breast
32	chr11:18974400-18974800	Enhancers	NHEK	skin
33	chr11:18974600-18975000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:18974600-18975000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:18974800-18979400	Weak transcription	NHEK	skin
36	chr11:18975000-18979600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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