Variant report

Variant	nsv975090
Chromosome Location	chr11:18164912-18189697
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:174)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:174 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr11:18166100-18166164	GM12878	blood:	n/a	n/a
2	CBX3	chr11:18165709-18166352	HCT-116	colon:	n/a	n/a
3	CHD2	chr11:18169620-18169896	K562	blood:	n/a	n/a
4	CTCF	chr11:18166716-18166857	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr11:18166760-18166910	BJ	skin:	n/a	n/a
6	CTCF	chr11:18166780-18166930	HCT-116	colon:	n/a	n/a
7	CTCF	chr11:18166700-18166850	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr11:18166655-18166877	LNCaP	prostate:	n/a	n/a
9	CTCF	chr11:18166621-18166899	IMR90	lung:	n/a	n/a
10	CTCF	chr11:18166592-18166937	GM12878	blood:	n/a	n/a
11	CTCF	chr11:18166620-18166770	HFF-Myc	foreskin:	n/a	n/a
12	CTCF	chr11:18166439-18167039	SK-N-SH	brain:	n/a	n/a
13	CTCF	chr11:18169760-18169910	GM12873	blood:	n/a	n/a
14	CTCF	chr11:18166670-18166842	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr11:18166727-18166815	MCF-7	breast:	n/a	n/a
16	CTCF	chr11:18166840-18166990	A549	lung:	n/a	n/a
17	CTCF	chr11:18166541-18166931	A549	lung:	n/a	n/a
18	CTCF	chr11:18166660-18166810	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr11:18166760-18166910	NHDF-neo	bronchial:	n/a	n/a
20	CTCF	chr11:18166680-18166830	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr11:18166560-18166710	HRE	kidney:	n/a	n/a
22	CTCF	chr11:18166690-18166802	K562	blood:	n/a	n/a
23	CTCF	chr11:18166640-18166790	A549	lung:	n/a	n/a
24	CTCF	chr11:18166720-18166870	HA-sp	spinal cord:	n/a	n/a
25	CTCF	chr11:18166700-18166850	GM12874	blood:	n/a	n/a
26	CTCF	chr11:18166728-18166767	Spleen_OC	spleen:	n/a	n/a
27	CTCF	chr11:18166680-18166830	AG10803	skin:	n/a	n/a
28	CTCF	chr11:18166740-18166890	RPTEC	kidney:	n/a	n/a
29	CTCF	chr11:18166620-18166770	GM12875	blood:	n/a	n/a
30	CTCF	chr11:18166700-18166850	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr11:18166620-18166770	HPAF	blood vessel:	n/a	n/a
32	CTCF	chr11:18166720-18166870	HCFaa	heart:	n/a	n/a
33	CTCF	chr11:18166660-18166810	GM12869	blood:	n/a	n/a
34	CTCF	chr11:18166666-18166880	HepG2	liver:	n/a	n/a
35	CTCF	chr11:18166720-18166870	GM12878	blood:	n/a	n/a
36	CTCF	chr11:18166703-18166827	Gliobla	brain:	n/a	n/a
37	CTCF	chr11:18166760-18166910	HAc	cerebellar:	n/a	n/a
38	CTCF	chr11:18166683-18166847	LNCaP	prostate:	n/a	n/a
39	CTCF	chr11:18166692-18166821	A549	lung:	n/a	n/a
40	CTCF	chr11:18166700-18166850	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr11:18166700-18166850	GM12872	blood:	n/a	n/a
42	CTCF	chr11:18166740-18166890	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr11:18166720-18166870	HCPEpiC	choroid plexus:	n/a	n/a
44	CTCF	chr11:18166660-18166810	AoAF	blood vessel:	n/a	n/a
45	CTCF	chr11:18166660-18166810	HVMF	connective:	n/a	n/a
46	CTCF	chr11:18166719-18166820	K562	blood:	n/a	n/a
47	CTCF	chr11:18169900-18170050	K562	blood:	n/a	n/a
48	CTCF	chr11:18166640-18166790	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr11:18166720-18166870	GM06990	blood:	n/a	n/a
50	CTCF	chr11:18166677-18166882	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:18172905-18172955	T-47D	breast:	n/a
2	chr11:18172905-18172955	HL-60	blood:	n/a
3	chr11:18172905-18172955	HEK293	kidney:	embryo
4	chr11:18172905-18172955	HCT-116	colon:	n/a
5	chr11:18172905-18172955	GM19239	blood:	n/a
6	chr11:18172905-18172955	ECC-1	luminal epithelium:	n/a
7	chr11:18172905-18172955	BJ	skin:	n/a
8	chr11:18172905-18172955	GM12878	blood:	n/a
9	chr11:18172905-18172955	HRPEpiC	eye:	n/a
10	chr11:18172905-18172955	ProgFib	skin:	n/a
11	chr11:18172905-18172955	HRCEpiC	kidney:	n/a
12	chr11:18172905-18172955	MCF10A-Er-Src	breast:	n/a
13	chr11:18172905-18172955	AG04449	skin:	fetal
14	chr11:18172905-18172955	RPTEC	kidney:	n/a
15	chr11:18172905-18172955	NHDF-neo	bronchial:	n/a
16	chr11:18172905-18172955	U87	brain:	n/a
17	chr11:18172905-18172955	PFSK-1	brain:	n/a
18	chr11:18172905-18172955	HMEC	breast:	n/a
19	chr11:18172905-18172955	GM06990	blood:	n/a
20	chr11:18172905-18172955	Hela-S3	cervix:	n/a
21	chr11:18172905-18172955	HPAEpiC	pulmonary alveolar:	n/a
22	chr11:18172905-18172955	Caco-2	colon:	n/a
23	chr11:18172905-18172955	GM12892	blood:	n/a
24	chr11:18172905-18172955	Hepatocyte	liver:	n/a
25	chr11:18172905-18172955	IMR90	lung:	fetal
26	chr11:18172905-18172955	PrEC	prostate:	n/a
27	chr11:18172905-18172955	NB4	blood:	n/a
28	chr11:18172905-18172955	AG09309	skin:	n/a
29	chr11:18172905-18172955	HCM	heart:	n/a
30	chr11:18172905-18172955	HEEpiC	esophagus:	n/a
31	chr11:18172905-18172955	GM12891	blood:	n/a
32	chr11:18172905-18172955	AG09319	gingival:	n/a
33	chr11:18172905-18172955	AoSMC	blood vessel:	n/a
34	chr11:18172905-18172955	SK-N-SH_RA	brain:	n/a
35	chr11:18172905-18172955	AG10803	skin:	n/a
36	chr11:18172905-18172955	HUVEC	blood vessel:	n/a
37	chr11:18172905-18172955	BE2_C	brain:	n/a
38	chr11:18172905-18172955	HepG2	liver:	n/a
39	chr11:18172905-18172955	HIPEpiC	eye:	n/a
40	chr11:18172905-18172955	H1-hESC	embryonic stem cell:	embryo
41	chr11:18172905-18172955	SK-N-SH	brain:	n/a
42	chr11:18172905-18172955	NHBE	bronchial:	n/a
43	chr11:18172905-18172955	A549	lung:	n/a
44	chr11:18172905-18172955	HNPCEpiC	eye:	n/a
45	chr11:18172905-18172955	LNCaP	prostate:	n/a
46	chr11:18172905-18172955	HCF	heart:	n/a
47	chr11:18172905-18172955	HAEpiC	amniotic membrane:	n/a
48	chr11:18172905-18172955	NH-A	brain:	n/a
49	chr11:18172905-18172955	ovcar-3	ovarian:	n/a
50	chr11:18172905-18172955	SKMC	muscle:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18013193..18013909-chr11:18166278..18166794,2	MCF-7	breast:
2	chr11:18173467..18175393-chr11:18177019..18179182,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRGPRX3-2	chr11:18174824-18175802	NONHSAT018264

No data

Variant related genes	Relation type
MRGPRX4	TF binding region
ENSG00000254857	TF binding region
MRGPRX4	CpG island
ENSG00000254857	CpG island
ENSG00000254857	chromatin interactions

Extended variants
information (count: 448 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:448 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563538455	chr11:18164967-18164968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375970508	chr11:18164979-18164980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188408767	chr11:18164998-18164999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565889815	chr11:18165017-18165018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539307707	chr11:18165027-18165028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551661622	chr11:18165076-18165077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569538103	chr11:18165085-18165086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537088242	chr11:18165095-18165096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555477987	chr11:18165106-18165107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192645957	chr11:18165184-18165185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184679677	chr11:18165201-18165202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534731386	chr11:18165223-18165224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554362975	chr11:18165224-18165225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572612650	chr11:18165225-18165226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546171061	chr11:18165247-18165248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543859078	chr11:18165252-18165253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376542489	chr11:18165285-18165286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564846498	chr11:18165288-18165289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559448825	chr11:18165339-18165340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs386751138	chr11:18165340-18165341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369254825	chr11:18165341-18165342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184714986	chr11:18165342-18165343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9733982	chr11:18165352-18165353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112684925	chr11:18165366-18165367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189211149	chr11:18165397-18165398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533191716	chr11:18165402-18165403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148959782	chr11:18165427-18165428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569960969	chr11:18165431-18165432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181587693	chr11:18165512-18165513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9733998	chr11:18165537-18165538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567275840	chr11:18165552-18165553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534667459	chr11:18165582-18165583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148098615	chr11:18165591-18165592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs58796192	chr11:18165606-18165607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75209748	chr11:18165609-18165610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572888687	chr11:18165611-18165612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558153090	chr11:18165624-18165625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528567248	chr11:18165649-18165650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186682899	chr11:18165650-18165651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571485835	chr11:18165664-18165665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543727107	chr11:18165678-18165679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76214427	chr11:18165679-18165680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189957678	chr11:18165687-18165688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573706362	chr11:18165722-18165723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs16935044	chr11:18165766-18165767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537714964	chr11:18165789-18165790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559842172	chr11:18165822-18165823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532958783	chr11:18165853-18165854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1378603	chr11:18165883-18165884	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs372608388	chr11:18165884-18165885	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
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18157200-18165600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:18164000-18166000	Enhancers	HMEC	breast
3	chr11:18164800-18166600	Enhancers	NHEK	skin
4	chr11:18165600-18166200	Enhancers	HUVEC	blood vessel
5	chr11:18165600-18166800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:18166000-18166400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:18166000-18166800	ZNF genes & repeats	HMEC	breast
8	chr11:18166800-18168400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:18167400-18167800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr11:18172400-18173600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr11:18172600-18173400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr11:18172800-18174200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr11:18175200-18175400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:18177800-18178000	Enhancers	Pancreas	Pancrea
15	chr11:18180600-18180800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:18182000-18182200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr11:18186800-18187200	Active TSS	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links