Variant report

Variant	nsv518373
Chromosome Location	chr11:18164687-18195348
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:417)
CpG islands
(count:427)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:18193081-18193472	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:18194351-18194592	HepG2	liver:	n/a	n/a
3	BHLHE40	chr11:18166100-18166164	GM12878	blood:	n/a	n/a
4	CBX3	chr11:18165709-18166352	HCT-116	colon:	n/a	n/a
5	CEBPB	chr11:18193077-18193257	Hela-S3	cervix:	n/a	n/a
6	CHD2	chr11:18169620-18169896	K562	blood:	n/a	n/a
7	CREB1	chr11:18192998-18193199	A549	lung:	n/a	n/a
8	CTCF	chr11:18192991-18193213	GM10266	blood:	n/a	chr11:18193103-18193112
9	CTCF	chr11:18193000-18193150	WI-38	lung:	n/a	chr11:18193103-18193112
10	CTCF	chr11:18193040-18193190	HPF	lung:	n/a	chr11:18193103-18193112
11	CTCF	chr11:18193300-18193452	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr11:18166660-18166810	HPF	lung:	n/a	n/a
13	CTCF	chr11:18193028-18193183	Lung_OC	lung:	n/a	chr11:18193103-18193112
14	CTCF	chr11:18166760-18166910	MCF-7	breast:	n/a	n/a
15	CTCF	chr11:18166700-18166850	HPAF	blood vessel:	n/a	n/a
16	CTCF	chr11:18193020-18193170	GM12870	blood:	n/a	chr11:18193103-18193112
17	CTCF	chr11:18166660-18166810	GM12878	blood:	n/a	n/a
18	CTCF	chr11:18193040-18193190	GM12873	blood:	n/a	chr11:18193103-18193112
19	CTCF	chr11:18193060-18193210	GM12801	blood:	n/a	chr11:18193103-18193112
20	CTCF	chr11:18193011-18193164	SK-N-SH_RA	brain:	n/a	chr11:18193103-18193112
21	CTCF	chr11:18166680-18166830	BJ	skin:	n/a	n/a
22	CTCF	chr11:18192981-18193222	MCF-7	breast:	n/a	chr11:18193103-18193112
23	CTCF	chr11:18166720-18166849	GM10266	blood:	n/a	n/a
24	CTCF	chr11:18192979-18193214	Fibrobl	skin:	n/a	chr11:18193103-18193112
25	CTCF	chr11:18192910-18193311	K562	blood:	n/a	chr11:18193103-18193112
26	CTCF	chr11:18166628-18166894	Medullo	brain:	n/a	n/a
27	CTCF	chr11:18192882-18193577	MCF-7	breast:	n/a	chr11:18193103-18193112
28	CTCF	chr11:18192977-18193231	Hela-S3	cervix:	n/a	chr11:18193103-18193112
29	CTCF	chr11:18193040-18193190	HUVEC	blood vessel:	n/a	chr11:18193103-18193112
30	CTCF	chr11:18166677-18166882	GM12878	blood:	n/a	n/a
31	CTCF	chr11:18193012-18193197	GM10248	blood:	n/a	chr11:18193103-18193112
32	CTCF	chr11:18166680-18166830	HFF	foreskin:	n/a	n/a
33	CTCF	chr11:18166660-18166810	HEK293	kidney:	n/a	n/a
34	CTCF	chr11:18193040-18193190	BE2_C	brain:	n/a	chr11:18193103-18193112
35	CTCF	chr11:18166700-18166850	GM12874	blood:	n/a	n/a
36	CTCF	chr11:18193333-18193417	LNCaP	prostate:	n/a	n/a
37	CTCF	chr11:18166700-18166850	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr11:18192980-18193250	SK-N-SH_RA	brain:	n/a	chr11:18193103-18193112
39	CTCF	chr11:18166660-18166810	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr11:18193000-18193150	AoAF	blood vessel:	n/a	chr11:18193103-18193112
41	CTCF	chr11:18193020-18193170	RPTEC	kidney:	n/a	chr11:18193103-18193112
42	CTCF	chr11:18166760-18166910	NHDF-neo	bronchial:	n/a	n/a
43	CTCF	chr11:18193040-18193190	AG10803	skin:	n/a	chr11:18193103-18193112
44	CTCF	chr11:18193044-18193171	Pancreas_OC	pancreas:	n/a	chr11:18193103-18193112
45	CTCF	chr11:18166600-18166750	HCM	heart:	n/a	n/a
46	CTCF	chr11:18193020-18193170	HepG2	liver:	n/a	chr11:18193103-18193112
47	CTCF	chr11:18166660-18166810	AoAF	blood vessel:	n/a	n/a
48	CTCF	chr11:18192974-18193233	LNCaP	prostate:	n/a	chr11:18193103-18193112
49	CTCF	chr11:18166690-18166802	K562	blood:	n/a	n/a
50	CTCF	chr11:18166660-18166810	HA-sp	spinal cord:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:18194904-18194954	NHBE	bronchial:	n/a
2	chr11:18194904-18194954	MCF10A-Er-Src	breast:	n/a
3	chr11:18195086-18195136	Hela-S3	cervix:	n/a
4	chr11:18194514-18194564	HRCEpiC	kidney:	n/a
5	chr11:18194514-18194564	SK-N-SH_RA	brain:	n/a
6	chr11:18172905-18172955	NT2-D1	testis:	n/a
7	chr11:18194514-18194564	HUVEC	blood vessel:	n/a
8	chr11:18193422-18193472	AG09319	gingival:	n/a
9	chr11:18172905-18172955	CMK	blood:	n/a
10	chr11:18193674-18193724	HPAEpiC	pulmonary alveolar:	n/a
11	chr11:18172905-18172955	ovcar-3	ovarian:	n/a
12	chr11:18193674-18193724	BJ	skin:	n/a
13	chr11:18194514-18194564	SAEC	small airway:	n/a
14	chr11:18194904-18194954	HPAEpiC	pulmonary alveolar:	n/a
15	chr11:18193674-18193724	NT2-D1	testis:	n/a
16	chr11:18195086-18195136	Caco-2	colon:	n/a
17	chr11:18193360-18193410	HRCEpiC	kidney:	n/a
18	chr11:18172905-18172955	Hepatocyte	liver:	n/a
19	chr11:18194514-18194564	Hepatocyte	liver:	n/a
20	chr11:18193422-18193472	HAEpiC	amniotic membrane:	n/a
21	chr11:18172905-18172955	SAEC	small airway:	n/a
22	chr11:18172905-18172955	AoSMC	blood vessel:	n/a
23	chr11:18194904-18194954	NHDF-neo	bronchial:	n/a
24	chr11:18194904-18194954	HMEC	breast:	n/a
25	chr11:18193422-18193472	GM12878	blood:	n/a
26	chr11:18193422-18193472	RPTEC	kidney:	n/a
27	chr11:18195086-18195136	AoSMC	blood vessel:	n/a
28	chr11:18193674-18193724	IMR90	lung:	fetal
29	chr11:18195086-18195136	PANC-1	pancreas:	n/a
30	chr11:18193422-18193472	NHBE	bronchial:	n/a
31	chr11:18195086-18195136	SK-N-SH_RA	brain:	n/a
32	chr11:18194514-18194564	PFSK-1	brain:	n/a
33	chr11:18193674-18193724	HRPEpiC	eye:	n/a
34	chr11:18194514-18194564	HEK293	kidney:	embryo
35	chr11:18193360-18193410	AG04450	lung:	fetal
36	chr11:18172905-18172955	AG09309	skin:	n/a
37	chr11:18194514-18194564	NT2-D1	testis:	n/a
38	chr11:18195086-18195136	HEK293	kidney:	embryo
39	chr11:18193360-18193410	NH-A	brain:	n/a
40	chr11:18194904-18194954	H1-hESC	embryonic stem cell:	embryo
41	chr11:18194514-18194564	HAEpiC	amniotic membrane:	n/a
42	chr11:18193422-18193472	HCF	heart:	n/a
43	chr11:18193360-18193410	BE2_C	brain:	n/a
44	chr11:18193674-18193724	HNPCEpiC	eye:	n/a
45	chr11:18195086-18195136	HCF	heart:	n/a
46	chr11:18194904-18194954	Hepatocyte	liver:	n/a
47	chr11:18193674-18193724	H1-hESC	embryonic stem cell:	embryo
48	chr11:18172905-18172955	Caco-2	colon:	n/a
49	chr11:18193674-18193724	K562	blood:	n/a
50	chr11:18194514-18194564	GM06990	blood:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18013193..18013909-chr11:18166278..18166794,2	MCF-7	breast:
2	chr11:18193078..18193637-chr11:18785527..18786047,2	K562	blood:
3	chr11:18192847..18193418-chr11:18785532..18786067,2	MCF-7	breast:
4	chr11:18192633..18193561-chr11:18225013..18225969,5	MCF-7	breast:
5	chr11:18192652..18193394-chr11:18672481..18673351,2	K562	blood:
6	chr11:18173467..18175393-chr11:18177019..18179182,2	MCF-7	breast:
7	chr11:18137193..18137763-chr11:18192627..18193399,2	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
ENSG00000166787	chromatin interactions

Extended variants
information (count: 688 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:688 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2445162	chr11:18164687-18164688	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546481938	chr11:18164695-18164696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187705443	chr11:18164730-18164731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564285898	chr11:18164775-18164776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545345785	chr11:18164786-18164787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34698205	chr11:18164820-18164821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35440861	chr11:18164823-18164824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549859993	chr11:18164841-18164842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549844005	chr11:18164871-18164872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562080740	chr11:18164894-18164895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192252420	chr11:18164902-18164903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529040064	chr11:18164909-18164910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182921596	chr11:18164910-18164911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563538455	chr11:18164967-18164968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375970508	chr11:18164979-18164980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188408767	chr11:18164998-18164999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565889815	chr11:18165017-18165018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539307707	chr11:18165027-18165028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551661622	chr11:18165076-18165077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569538103	chr11:18165085-18165086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537088242	chr11:18165095-18165096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555477987	chr11:18165106-18165107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192645957	chr11:18165184-18165185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184679677	chr11:18165201-18165202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534731386	chr11:18165223-18165224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554362975	chr11:18165224-18165225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572612650	chr11:18165225-18165226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546171061	chr11:18165247-18165248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543859078	chr11:18165252-18165253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376542489	chr11:18165285-18165286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564846498	chr11:18165288-18165289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559448825	chr11:18165339-18165340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs386751138	chr11:18165340-18165341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369254825	chr11:18165341-18165342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184714986	chr11:18165342-18165343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9733982	chr11:18165352-18165353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112684925	chr11:18165366-18165367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189211149	chr11:18165397-18165398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533191716	chr11:18165402-18165403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148959782	chr11:18165427-18165428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569960969	chr11:18165431-18165432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181587693	chr11:18165512-18165513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9733998	chr11:18165537-18165538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567275840	chr11:18165552-18165553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534667459	chr11:18165582-18165583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148098615	chr11:18165591-18165592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs58796192	chr11:18165606-18165607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75209748	chr11:18165609-18165610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572888687	chr11:18165611-18165612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558153090	chr11:18165624-18165625	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:25 , 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	chr11:18164600-18164800	Weak transcription	NHEK	skin
4	chr11:18164800-18166600	Enhancers	NHEK	skin
5	chr11:18165600-18166200	Enhancers	HUVEC	blood vessel
6	chr11:18165600-18166800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:18166000-18166400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:18166000-18166800	ZNF genes & repeats	HMEC	breast
9	chr11:18166800-18168400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:18167400-18167800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr11:18172400-18173600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr11:18172600-18173400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr11:18172800-18174200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr11:18175200-18175400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:18177800-18178000	Enhancers	Pancreas	Pancrea
16	chr11:18180600-18180800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr11:18182000-18182200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr11:18186800-18187200	Active TSS	GM12878-XiMat	blood
19	chr11:18189800-18190200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:18189800-18190400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:18189800-18190400	Enhancers	NHEK	skin
22	chr11:18189800-18190600	Enhancers	HMEC	breast
23	chr11:18190000-18190600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:18193400-18195800	Enhancers	HepG2	liver
25	chr11:18194600-18195600	Enhancers	Primary B cells from peripheral blood	blood

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