Variant report

Variant	nsv971990
Chromosome Location	chr11:18153921-18164912
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:367)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr11:18157025-18157031	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr11:18158802-18158812	GM10248	blood:	n/a	n/a
3	CTCF	chr11:18157959-18158018	GM20000	blood:	n/a	n/a
4	CTCF	chr11:18159736-18159766	GM10248	blood:	n/a	n/a
5	CTCF	chr11:18160070-18160140	GM10248	blood:	n/a	n/a
6	CTCF	chr11:18163213-18163272	GM10248	blood:	n/a	n/a
7	CTCF	chr11:18158809-18158911	MCF-7	breast:	n/a	n/a
8	FOS	chr11:18162805-18162979	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr11:18153958-18154270	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr11:18162875-18162978	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr11:18153860-18154336	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr11:18155820-18155997	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr11:18153801-18154323	MCF10A-Er-Src	breast:	n/a	n/a
14	JUND	chr11:18163821-18163949	HepG2	liver:	n/a	chr11:18163873-18163882
15	MAFF	chr11:18164270-18164521	HepG2	liver:	n/a	chr11:18164397-18164415
16	MAFK	chr11:18157664-18157729	HepG2	liver:	n/a	n/a
17	MAFK	chr11:18164252-18164537	HepG2	liver:	n/a	chr11:18164403-18164414 chr11:18164398-18164413 chr11:18164401-18164415 chr11:18164402-18164413 chr11:18164403-18164414 chr11:18164398-18164414
18	MAFK	chr11:18164250-18164568	HepG2	liver:	n/a	chr11:18164403-18164414 chr11:18164398-18164413 chr11:18164401-18164415 chr11:18164402-18164413 chr11:18164403-18164414 chr11:18164398-18164414
19	MAZ	chr11:18154336-18154395	HepG2	liver:	n/a	n/a
20	MYC	chr11:18156946-18157115	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr11:18158893-18158962	MCF-7	breast:	n/a	n/a
22	POLR2A	chr11:18157023-18157213	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:18154870-18154888	A549	lung:	n/a	n/a
24	POLR2A	chr11:18158835-18158873	Gliobla	brain:	n/a	n/a
25	POLR2A	chr11:18158788-18158958	MCF-7	breast:	n/a	n/a
26	POLR2A	chr11:18158786-18158918	A549	lung:	n/a	n/a
27	POLR2A	chr11:18156997-18157013	H1-hESC	embryonic stem cell:	n/a	n/a
28	REST	chr11:18153873-18154294	PFSK-1	brain:	n/a	chr11:18154238-18154252
29	REST	chr11:18153823-18154305	PFSK-1	brain:	n/a	chr11:18154238-18154252
30	SPI1	chr11:18158872-18159021	K562	blood:	n/a	n/a
31	SPI1	chr11:18158836-18159015	K562	blood:	n/a	n/a
32	STAT3	chr11:18153800-18154328	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr11:18153800-18154315	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr11:18153787-18153987	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr11:18153889-18154290	MCF10A-Er-Src	breast:	n/a	n/a
36	TEAD4	chr11:18156861-18157225	H1-hESC	embryonic stem cell:	n/a	n/a
37	TEAD4	chr11:18156886-18157297	H1-hESC	embryonic stem cell:	n/a	n/a
38	ZC3H11A	chr11:18162334-18162487	K562	blood:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:18157405-18157455	HCM	heart:	n/a
2	chr11:18157405-18157455	HCM	heart:	n/a
3	chr11:18157405-18157455	NHDF-neo	bronchial:	n/a
4	chr11:18158918-18158968	T-47D	breast:	n/a
5	chr11:18157898-18157948	HUVEC	blood vessel:	n/a
6	chr11:18157405-18157455	PrEC	prostate:	n/a
7	chr11:18158918-18158968	GM06990	blood:	n/a
8	chr11:18157898-18157948	K562	blood:	n/a
9	chr11:18158850-18158900	HAEpiC	amniotic membrane:	n/a
10	chr11:18159842-18159892	Caco-2	colon:	n/a
11	chr11:18157405-18157455	HMEC	breast:	n/a
12	chr11:18157898-18157948	SK-N-SH_RA	brain:	n/a
13	chr11:18158850-18158900	BJ	skin:	n/a
14	chr11:18159842-18159892	PFSK-1	brain:	n/a
15	chr11:18158980-18159030	HEK293	kidney:	embryo
16	chr11:18158918-18158968	Hepatocyte	liver:	n/a
17	chr11:18158850-18158900	ProgFib	skin:	n/a
18	chr11:18158850-18158900	U87	brain:	n/a
19	chr11:18158850-18158900	Jurkat	blood:	n/a
20	chr11:18157898-18157948	AG09319	gingival:	n/a
21	chr11:18158980-18159030	ProgFib	skin:	n/a
22	chr11:18158980-18159030	HNPCEpiC	eye:	n/a
23	chr11:18158980-18159030	GM12878	blood:	n/a
24	chr11:18157405-18157455	MCF10A-Er-Src	breast:	n/a
25	chr11:18158918-18158968	ECC-1	luminal epithelium:	n/a
26	chr11:18157405-18157455	HNPCEpiC	eye:	n/a
27	chr11:18159842-18159892	HCPEpiC	choroid plexus:	n/a
28	chr11:18158850-18158900	BE2_C	brain:	n/a
29	chr11:18158980-18159030	K562	blood:	n/a
30	chr11:18158918-18158968	SK-N-SH_RA	brain:	n/a
31	chr11:18158850-18158900	AG09319	gingival:	n/a
32	chr11:18158980-18159030	Hela-S3	cervix:	n/a
33	chr11:18158980-18159030	GM12891	blood:	n/a
34	chr11:18158918-18158968	GM19239	blood:	n/a
35	chr11:18158850-18158900	NB4	blood:	n/a
36	chr11:18157898-18157948	Jurkat	blood:	n/a
37	chr11:18159842-18159892	HRE	kidney:	n/a
38	chr11:18159842-18159892	HNPCEpiC	eye:	n/a
39	chr11:18158980-18159030	GM12892	blood:	n/a
40	chr11:18158850-18158900	PANC-1	pancreas:	n/a
41	chr11:18158918-18158968	HEEpiC	esophagus:	n/a
42	chr11:18159842-18159892	MCF10A-Er-Src	breast:	n/a
43	chr11:18157405-18157455	PANC-1	pancreas:	n/a
44	chr11:18158980-18159030	HAEpiC	amniotic membrane:	n/a
45	chr11:18158918-18158968	HRPEpiC	eye:	n/a
46	chr11:18157898-18157948	PANC-1	pancreas:	n/a
47	chr11:18158918-18158968	NB4	blood:	n/a
48	chr11:18158850-18158900	MCF10A-Er-Src	breast:	n/a
49	chr11:18158850-18158900	MCF-7	breast:	n/a
50	chr11:18159842-18159892	HCM	heart:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18152566..18154757-chr11:18415660..18417661,2	K562	blood:
2	chr11:18137092..18139128-chr11:18156082..18158829,2	K562	blood:
3	chr11:18158132..18160556-chr11:18162021..18163694,2	K562	blood:
4	chr11:18158132..18160556-chr11:18162021..18163694,2	K562	blood:

No data

Variant related genes	Relation type
MRGPRX3	TF binding region
MRGPRX3	CpG island
ENSG00000166787	chromatin interactions
ENSG00000134333	chromatin interactions

Extended variants
information (count: 499 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:499 , 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	rs567481342	chr11:18154054-18154055	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs2468842	chr11:18154120-18154121	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs544151716	chr11:18154127-18154128	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs552975160	chr11:18154132-18154133	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs577726482	chr11:18154170-18154171	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs145489784	chr11:18154173-18154174	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs1975777	chr11:18154223-18154224	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs554863313	chr11:18154247-18154248	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs576707088	chr11:18154263-18154264	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs571494845	chr11:18154277-18154278	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs116970690	chr11:18154279-18154280	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs183307745	chr11:18154383-18154384	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs186845215	chr11:18154385-18154386	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs541734857	chr11:18154388-18154389	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs191380644	chr11:18154392-18154393	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs548121791	chr11:18154406-18154407	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs566493240	chr11:18154477-18154478	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs533167665	chr11:18154485-18154486	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs60467549	chr11:18154497-18154498	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs569852973	chr11:18154500-18154501	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs530714092	chr11:18154601-18154602	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs548932820	chr11:18154623-18154624	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567472796	chr11:18154628-18154629	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs534578188	chr11:18154689-18154690	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs559034342	chr11:18154692-18154693	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs112650809	chr11:18154763-18154764	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs71484797	chr11:18154767-18154768	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs386751135	chr11:18154844-18154845	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10766457	chr11:18154846-18154847	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs189467839	chr11:18154867-18154868	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575278364	chr11:18154871-18154872	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376969929	chr11:18154907-18154908	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192398428	chr11:18154908-18154909	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574194484	chr11:18154916-18154917	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112036397	chr11:18154917-18154918	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559626008	chr11:18154952-18154953	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190196029	chr11:18154956-18154957	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143979464	chr11:18154971-18154972	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181493268	chr11:18155030-18155031	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34119028	chr11:18155067-18155068	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12287799	chr11:18155093-18155094	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12287904	chr11:18155125-18155126	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs560418965	chr11:18155173-18155174	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146430550	chr11:18155174-18155175	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375201590	chr11:18155175-18155176	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549679626	chr11:18155179-18155180	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2468841	chr11:18155214-18155215	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs571608372	chr11:18155254-18155255	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12274666	chr11:18155343-18155344	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs550624107	chr11:18155403-18155404	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
small cell lung cancer	20016488	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
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18150400-18156200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:18151800-18154200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:18152400-18154600	Enhancers	HepG2	liver
4	chr11:18153800-18154000	Enhancers	HMEC	breast
5	chr11:18153800-18154600	Enhancers	NHEK	skin
6	chr11:18153800-18155000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:18153800-18155600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:18154000-18154200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:18154000-18154600	Flanking Active TSS	HMEC	breast
10	chr11:18154200-18154400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr11:18154200-18156800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:18154400-18154600	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr11:18154400-18155000	Enhancers	Esophagus	oesophagus
14	chr11:18154600-18155400	Enhancers	HMEC	breast
15	chr11:18154600-18155600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr11:18154600-18156000	Weak transcription	NHEK	skin
17	chr11:18155000-18156000	Weak transcription	Esophagus	oesophagus
18	chr11:18155600-18156400	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr11:18156000-18156200	Enhancers	NHEK	skin
20	chr11:18156200-18156400	Enhancers	Esophagus	oesophagus
21	chr11:18156200-18156600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:18156200-18156800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:18156200-18157000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr11:18156200-18157400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr11:18156200-18157400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr11:18156400-18157000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr11:18156400-18157000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr11:18156400-18161200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:18156600-18157000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr11:18156800-18157200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:18156800-18157400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr11:18156800-18157400	Enhancers	HepG2	liver
33	chr11:18157200-18165600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:18164000-18164200	Weak transcription	NHEK	skin
35	chr11:18164000-18166000	Enhancers	HMEC	breast
36	chr11:18164200-18164600	ZNF genes & repeats	NHEK	skin
37	chr11:18164600-18164800	Weak transcription	NHEK	skin
38	chr11:18164800-18166600	Enhancers	NHEK	skin

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