Variant report

Variant	esv3521088
Chromosome Location	chr11:18963948-18986316
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:18985505-18985506	K562	blood:	n/a	n/a
2	CEBPB	chr11:18965116-18965409	K562	blood:	n/a	n/a
3	CEBPB	chr11:18970388-18970535	A549	lung:	n/a	n/a
4	CEBPB	chr11:18977944-18978151	A549	lung:	n/a	n/a
5	CEBPD	chr11:18965149-18965591	K562	blood:	n/a	n/a
6	CHD2	chr11:18980168-18980255	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr11:18980222-18980312	ProgFib	skin:	n/a	n/a
8	CTCF	chr11:18980226-18980331	GM12892	blood:	n/a	n/a
9	CTCF	chr11:18980230-18980320	MCF-7	breast:	n/a	n/a
10	CTCF	chr11:18980233-18980333	HepG2	liver:	n/a	n/a
11	CTCF	chr11:18980240-18980312	MCF-7	breast:	n/a	n/a
12	CTCF	chr11:18980222-18980331	GM12891	blood:	n/a	n/a
13	CTCF	chr11:18980237-18980329	A549	lung:	n/a	n/a
14	CTCF	chr11:18980230-18980333	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr11:18980239-18980330	K562	blood:	n/a	n/a
16	CTCF	chr11:18980219-18980331	GM19239	blood:	n/a	n/a
17	CTCF	chr11:18980224-18980331	GM19238	blood:	n/a	n/a
18	CTCF	chr11:18980266-18980292	Fibrobl	skin:	n/a	n/a
19	CTCF	chr11:18964083-18964146	GM10248	blood:	n/a	n/a
20	CTCF	chr11:18980237-18980331	GM19240	blood:	n/a	n/a
21	CTCF	chr11:18980265-18980298	NHEK	skin:	n/a	n/a
22	CTCF	chr11:18973940-18974063	Kidney_OC	kidney:	n/a	n/a
23	CTCF	chr11:18973975-18974019	LNCaP	prostate:	n/a	n/a
24	CTCF	chr11:18980221-18980332	Gliobla	brain:	n/a	n/a
25	CTCF	chr11:18980259-18980264	Fibrobl	skin:	n/a	n/a
26	E2F4	chr11:18986196-18986375	MCF10A-Er-Src	breast:	n/a	n/a
27	EGR1	chr11:18978030-18978291	K562	blood:	n/a	chr11:18978156-18978165 chr11:18978153-18978166 chr11:18978153-18978166 chr11:18978156-18978166 chr11:18978153-18978166
28	EGR1	chr11:18978084-18978269	K562	blood:	n/a	chr11:18978156-18978165 chr11:18978153-18978166 chr11:18978153-18978166 chr11:18978156-18978166 chr11:18978153-18978166
29	FOS	chr11:18974664-18974881	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr11:18974670-18974809	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr11:18974580-18974780	MCF10A-Er-Src	breast:	n/a	n/a
32	GATA2	chr11:18965011-18965552	K562	blood:	n/a	n/a
33	GATA3	chr11:18981100-18981298	SH-SY5Y	brain:	n/a	n/a
34	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
35	MAFK	chr11:18985121-18985260	HepG2	liver:	n/a	n/a
36	MAFK	chr11:18986291-18986350	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAFK	chr11:18981296-18981506	HepG2	liver:	n/a	n/a
38	MAFK	chr11:18981378-18981467	HepG2	liver:	n/a	n/a
39	MAX	chr11:18976979-18976990	NB4	blood:	n/a	n/a
40	MYC	chr11:18986312-18986489	MCF10A-Er-Src	breast:	n/a	n/a
41	MYC	chr11:18965167-18965422	K562	blood:	n/a	n/a
42	NR2F2	chr11:18965151-18965477	K562	blood:	n/a	n/a
43	POLR2A	chr11:18964590-18964743	A549	lung:	n/a	n/a
44	POLR2A	chr11:18976074-18976153	Gliobla	brain:	n/a	n/a
45	POLR2A	chr11:18964809-18964826	Gliobla	brain:	n/a	n/a
46	POLR2A	chr11:18980950-18981058	GM12878	blood:	n/a	n/a
47	POLR2A	chr11:18965158-18965613	A549	lung:	n/a	n/a
48	POLR2A	chr11:18965348-18965446	MCF-7	breast:	n/a	n/a
49	POLR2A	chr11:18973149-18973510	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr11:18980107-18980595	H1-hESC	embryonic stem cell:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:18978169-18978219	HRPEpiC	eye:	n/a
2	chr11:18978218-18978268	HRPEpiC	eye:	n/a
3	chr11:18978391-18978441	HPAEpiC	pulmonary alveolar:	n/a
4	chr11:18978218-18978268	SAEC	small airway:	n/a
5	chr11:18978218-18978268	AG04450	lung:	fetal
6	chr11:18978169-18978219	AoSMC	blood vessel:	n/a
7	chr11:18978169-18978219	GM19239	blood:	n/a
8	chr11:18978157-18978207	GM06990	blood:	n/a
9	chr11:18978391-18978441	U87	brain:	n/a
10	chr11:18978169-18978219	HCPEpiC	choroid plexus:	n/a
11	chr11:18978157-18978207	HUVEC	blood vessel:	n/a
12	chr11:18978157-18978207	HCF	heart:	n/a
13	chr11:18978218-18978268	BE2_C	brain:	n/a
14	chr11:18978218-18978268	IMR90	lung:	fetal
15	chr11:18978218-18978268	NH-A	brain:	n/a
16	chr11:18978391-18978441	HAEpiC	amniotic membrane:	n/a
17	chr11:18978157-18978207	HCPEpiC	choroid plexus:	n/a
18	chr11:18978157-18978207	U87	brain:	n/a
19	chr11:18978391-18978441	SKMC	muscle:	n/a
20	chr11:18978169-18978219	PrEC	prostate:	n/a
21	chr11:18978169-18978219	GM12892	blood:	n/a
22	chr11:18978391-18978441	PFSK-1	brain:	n/a
23	chr11:18978157-18978207	AG04450	lung:	fetal
24	chr11:18978391-18978441	Jurkat	blood:	n/a
25	chr11:18978157-18978207	Caco-2	colon:	n/a
26	chr11:18978169-18978219	AG09319	gingival:	n/a
27	chr11:18978169-18978219	H1-hESC	embryonic stem cell:	embryo
28	chr11:18978169-18978219	K562	blood:	n/a
29	chr11:18978169-18978219	GM12891	blood:	n/a
30	chr11:18978391-18978441	HCF	heart:	n/a
31	chr11:18978391-18978441	PrEC	prostate:	n/a
32	chr11:18978157-18978207	GM12892	blood:	n/a
33	chr11:18978169-18978219	SK-N-SH_RA	brain:	n/a
34	chr11:18978391-18978441	HCPEpiC	choroid plexus:	n/a
35	chr11:18978157-18978207	NT2-D1	testis:	n/a
36	chr11:18978169-18978219	HL-60	blood:	n/a
37	chr11:18978157-18978207	BJ	skin:	n/a
38	chr11:18978157-18978207	Jurkat	blood:	n/a
39	chr11:18978169-18978219	PFSK-1	brain:	n/a
40	chr11:18978218-18978268	NT2-D1	testis:	n/a
41	chr11:18978169-18978219	HRCEpiC	kidney:	n/a
42	chr11:18978218-18978268	HPAEpiC	pulmonary alveolar:	n/a
43	chr11:18978157-18978207	A549	lung:	n/a
44	chr11:18978391-18978441	Caco-2	colon:	n/a
45	chr11:18978169-18978219	AG09309	skin:	n/a
46	chr11:18978218-18978268	HCM	heart:	n/a
47	chr11:18978218-18978268	AG09319	gingival:	n/a
48	chr11:18978218-18978268	HAEpiC	amniotic membrane:	n/a
49	chr11:18978157-18978207	SK-N-SH	brain:	n/a
50	chr11:18978391-18978441	AG04449	skin:	fetal

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: 388 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112359863	chr11:18964094-18964095	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs112940010	chr11:18964098-18964099	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs537700090	chr11:18964102-18964103	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs187610019	chr11:18964110-18964111	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs77467595	chr11:18964143-18964144	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs542091056	chr11:18964145-18964146	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs562892765	chr11:18965103-18965104	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs146139689	chr11:18965454-18965455	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs11024891	chr11:18965515-18965516	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs567068245	chr11:18965520-18965521	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs527753938	chr11:18965529-18965530	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs139435341	chr11:18974421-18974422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537265182	chr11:18974472-18974473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76209036	chr11:18974498-18974499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546666231	chr11:18974524-18974525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549426338	chr11:18974534-18974535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187807891	chr11:18974570-18974571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371429542	chr11:18974596-18974597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538762721	chr11:18974645-18974646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556890613	chr11:18974670-18974671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192936559	chr11:18974672-18974673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184945940	chr11:18974686-18974687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12272200	chr11:18974703-18974704	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs567809537	chr11:18974775-18974776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188654411	chr11:18974802-18974803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540470208	chr11:18974844-18974845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1842921	chr11:18974860-18974861	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs150056429	chr11:18974899-18974900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7122804	chr11:18974907-18974908	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs192219636	chr11:18974937-18974938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368852228	chr11:18974961-18974962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75640340	chr11:18974963-18974964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368070178	chr11:18974998-18974999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184651356	chr11:18975000-18975001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528645018	chr11:18975007-18975008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7123184	chr11:18975079-18975080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs571528483	chr11:18975103-18975104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112199668	chr11:18975112-18975113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7122972	chr11:18975126-18975127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs551095517	chr11:18975183-18975184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569156617	chr11:18975196-18975197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7123103	chr11:18975198-18975199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs7123440	chr11:18975222-18975223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs543643861	chr11:18975244-18975245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148761373	chr11:18975247-18975248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189386551	chr11:18975261-18975262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7123138	chr11:18975292-18975293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs574174133	chr11:18975306-18975307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56167540	chr11:18975310-18975311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577117476	chr11:18975340-18975341	Weak transcription	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18974400-18974800	Enhancers	NHEK	skin
2	chr11:18974600-18975000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:18974600-18975000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:18974800-18979400	Weak transcription	NHEK	skin
5	chr11:18975000-18979600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:18978600-18979000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr11:18979000-18979400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:18979400-18979600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr11:18979400-18980000	Enhancers	NHEK	skin
10	chr11:18979400-18980800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr11:18979400-18981000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr11:18979400-18981000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr11:18979400-18981200	Enhancers	HMEC	breast
14	chr11:18979400-18981400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:18979600-18980800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:18979600-18981200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:18979800-18980600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr11:18979800-18980600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr11:18979800-18981000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr11:18979800-18981000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr11:18980000-18980400	Flanking Active TSS	NHEK	skin
22	chr11:18980400-18981400	Enhancers	NHEK	skin
23	chr11:18980600-18981000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr11:18980800-18981200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr11:18984800-18993200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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