Variant report

Variant	esv2762898
Chromosome Location	chr11:18166780-18198880
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:387)
CpG islands
(count:427)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

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	CEBPB	chr11:18193077-18193257	Hela-S3	cervix:	n/a	n/a
4	CHD2	chr11:18169620-18169896	K562	blood:	n/a	n/a
5	CREB1	chr11:18192998-18193199	A549	lung:	n/a	n/a
6	CTCF	chr11:18166660-18166810	GM12869	blood:	n/a	n/a
7	CTCF	chr11:18193019-18193198	GM13977	blood:	n/a	chr11:18193103-18193112
8	CTCF	chr11:18166720-18166870	HCFaa	heart:	n/a	n/a
9	CTCF	chr11:18193060-18193210	HepG2	liver:	n/a	chr11:18193103-18193112
10	CTCF	chr11:18193040-18193190	GM12878	blood:	n/a	chr11:18193103-18193112
11	CTCF	chr11:18166720-18166870	GM12878	blood:	n/a	n/a
12	CTCF	chr11:18166660-18166810	HMF	breast:	n/a	n/a
13	CTCF	chr11:18166720-18166870	NHDF-neo	bronchial:	n/a	n/a
14	CTCF	chr11:18193060-18193210	HVMF	connective:	n/a	chr11:18193103-18193112
15	CTCF	chr11:18192220-18192370	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr11:18193040-18193190	AG04450	lung:	n/a	chr11:18193103-18193112
17	CTCF	chr11:18193000-18193150	GM12874	blood:	n/a	chr11:18193103-18193112
18	CTCF	chr11:18193060-18193210	NB4	blood:	n/a	chr11:18193103-18193112
19	CTCF	chr11:18193040-18193190	HCFaa	heart:	n/a	chr11:18193103-18193112
20	CTCF	chr11:18166541-18166931	A549	lung:	n/a	n/a
21	CTCF	chr11:18192660-18192810	HPAF	blood vessel:	n/a	n/a
22	CTCF	chr11:18166740-18166890	GM12864	blood:	n/a	n/a
23	CTCF	chr11:18193040-18193190	A549	lung:	n/a	chr11:18193103-18193112
24	CTCF	chr11:18193040-18193190	AoAF	blood vessel:	n/a	chr11:18193103-18193112
25	CTCF	chr11:18166716-18166857	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr11:18193040-18193190	GM12867	blood:	n/a	chr11:18193103-18193112
27	CTCF	chr11:18193020-18193170	MCF-7	breast:	n/a	chr11:18193103-18193112
28	CTCF	chr11:18166640-18166790	AG09319	gingival:	n/a	n/a
29	CTCF	chr11:18193020-18193170	Hela-S3	cervix:	n/a	chr11:18193103-18193112
30	CTCF	chr11:18192991-18193211	MCF-7	breast:	n/a	chr11:18193103-18193112
31	CTCF	chr11:18193040-18193190	HVMF	connective:	n/a	chr11:18193103-18193112
32	CTCF	chr11:18193040-18193190	BE2_C	brain:	n/a	chr11:18193103-18193112
33	CTCF	chr11:18192983-18193207	GM12891	blood:	n/a	chr11:18193103-18193112
34	CTCF	chr11:18166700-18166850	HMF	breast:	n/a	n/a
35	CTCF	chr11:18192885-18193491	HepG2	liver:	n/a	chr11:18193103-18193112
36	CTCF	chr11:18193040-18193190	HEK293	kidney:	n/a	chr11:18193103-18193112
37	CTCF	chr11:18193020-18193170	GM12868	blood:	n/a	chr11:18193103-18193112
38	CTCF	chr11:18166583-18166850	HepG2	liver:	n/a	n/a
39	CTCF	chr11:18192991-18193213	GM10266	blood:	n/a	chr11:18193103-18193112
40	CTCF	chr11:18192785-18193591	HCT-116	colon:	n/a	chr11:18193103-18193112
41	CTCF	chr11:18193011-18193164	SK-N-SH_RA	brain:	n/a	chr11:18193103-18193112
42	CTCF	chr11:18166703-18166827	Gliobla	brain:	n/a	n/a
43	CTCF	chr11:18166719-18166820	K562	blood:	n/a	n/a
44	CTCF	chr11:18166666-18166880	HepG2	liver:	n/a	n/a
45	CTCF	chr11:18193040-18193190	GM12872	blood:	n/a	chr11:18193103-18193112
46	CTCF	chr11:18193040-18193190	GM06990	blood:	n/a	chr11:18193103-18193112
47	CTCF	chr11:18193000-18193150	HPAF	blood vessel:	n/a	chr11:18193103-18193112
48	CTCF	chr11:18192992-18193211	MCF-7	breast:	n/a	chr11:18193103-18193112
49	CTCF	chr11:18193040-18193190	HUVEC	blood vessel:	n/a	chr11:18193103-18193112
50	CTCF	chr11:18195637-18195713	LNCaP	prostate:	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	chr11:18193360-18193410	SKMC	muscle:	n/a
2	chr11:18172905-18172955	HPAEpiC	pulmonary alveolar:	n/a
3	chr11:18172905-18172955	AG09319	gingival:	n/a
4	chr11:18193674-18193724	ECC-1	luminal epithelium:	n/a
5	chr11:18194514-18194564	MCF-7	breast:	n/a
6	chr11:18193674-18193724	K562	blood:	n/a
7	chr11:18195086-18195136	HCM	heart:	n/a
8	chr11:18194904-18194954	NT2-D1	testis:	n/a
9	chr11:18172905-18172955	HCM	heart:	n/a
10	chr11:18172905-18172955	H1-hESC	embryonic stem cell:	embryo
11	chr11:18194514-18194564	HCM	heart:	n/a
12	chr11:18193674-18193724	HCM	heart:	n/a
13	chr11:18195086-18195136	LNCaP	prostate:	n/a
14	chr11:18193674-18193724	HRCEpiC	kidney:	n/a
15	chr11:18195086-18195136	NT2-D1	testis:	n/a
16	chr11:18195086-18195136	T-47D	breast:	n/a
17	chr11:18193422-18193472	HUVEC	blood vessel:	n/a
18	chr11:18195086-18195136	SAEC	small airway:	n/a
19	chr11:18194904-18194954	GM19239	blood:	n/a
20	chr11:18195086-18195136	GM12892	blood:	n/a
21	chr11:18194514-18194564	HCT-116	colon:	n/a
22	chr11:18193360-18193410	PFSK-1	brain:	n/a
23	chr11:18172905-18172955	AG10803	skin:	n/a
24	chr11:18193360-18193410	BJ	skin:	n/a
25	chr11:18193360-18193410	GM12892	blood:	n/a
26	chr11:18193422-18193472	Hepatocyte	liver:	n/a
27	chr11:18194514-18194564	SKMC	muscle:	n/a
28	chr11:18194904-18194954	Hepatocyte	liver:	n/a
29	chr11:18172905-18172955	HAEpiC	amniotic membrane:	n/a
30	chr11:18195086-18195136	BE2_C	brain:	n/a
31	chr11:18194514-18194564	ovcar-3	ovarian:	n/a
32	chr11:18193360-18193410	HMEC	breast:	n/a
33	chr11:18194514-18194564	NH-A	brain:	n/a
34	chr11:18195086-18195136	HCF	heart:	n/a
35	chr11:18194904-18194954	AoSMC	blood vessel:	n/a
36	chr11:18193674-18193724	ProgFib	skin:	n/a
37	chr11:18193422-18193472	Caco-2	colon:	n/a
38	chr11:18172905-18172955	BE2_C	brain:	n/a
39	chr11:18194904-18194954	HEEpiC	esophagus:	n/a
40	chr11:18193422-18193472	Jurkat	blood:	n/a
41	chr11:18193422-18193472	ECC-1	luminal epithelium:	n/a
42	chr11:18193674-18193724	NH-A	brain:	n/a
43	chr11:18193360-18193410	HepG2	liver:	n/a
44	chr11:18195086-18195136	NB4	blood:	n/a
45	chr11:18195086-18195136	AG10803	skin:	n/a
46	chr11:18193360-18193410	ovcar-3	ovarian:	n/a
47	chr11:18193674-18193724	AG09309	skin:	n/a
48	chr11:18194904-18194954	PANC-1	pancreas:	n/a
49	chr11:18193674-18193724	MCF10A-Er-Src	breast:	n/a
50	chr11:18193360-18193410	AG09319	gingival:	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	chr11:18173467..18175393-chr11:18177019..18179182,2	MCF-7	breast:
3	chr11:18192652..18193394-chr11:18672481..18673351,2	K562	blood:
4	chr11:18137193..18137763-chr11:18192627..18193399,2	MCF-7	breast:
5	chr11:18192847..18193418-chr11:18785532..18786067,2	MCF-7	breast:
6	chr11:18193078..18193637-chr11:18785527..18786047,2	K562	blood:
7	chr11:18192633..18193561-chr11:18225013..18225969,5	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
ENSG00000166787	chromatin interactions
ENSG00000254857	chromatin interactions

Extended variants
information (count: 629 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:629 , 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	rs553286479	chr11:18166792-18166793	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs577969916	chr11:18166807-18166808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545610726	chr11:18166812-18166813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575604199	chr11:18166882-18166883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543048747	chr11:18166888-18166889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148413920	chr11:18166924-18166925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4300374	chr11:18166939-18166940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs575488387	chr11:18166965-18166966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542878252	chr11:18166984-18166985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183024704	chr11:18167046-18167047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573066794	chr11:18167049-18167050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2468830	chr11:18167063-18167064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs7946618	chr11:18167068-18167069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs142516464	chr11:18167095-18167096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550647783	chr11:18167096-18167097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562267725	chr11:18167107-18167108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10832889	chr11:18167120-18167121	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs549130087	chr11:18167151-18167152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567539271	chr11:18167179-18167180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188069902	chr11:18167189-18167190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547378931	chr11:18167190-18167191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116280142	chr11:18167191-18167192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571615592	chr11:18167194-18167195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538688819	chr11:18167195-18167196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191357594	chr11:18167224-18167225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1378605	chr11:18167241-18167242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs1378606	chr11:18167248-18167249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs12225715	chr11:18167250-18167251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554759818	chr11:18167253-18167254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572960778	chr11:18167363-18167364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540510343	chr11:18167382-18167383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72864808	chr11:18167389-18167390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs555956780	chr11:18167391-18167392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376360522	chr11:18167403-18167404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576748215	chr11:18167437-18167438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147207087	chr11:18167457-18167458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533762384	chr11:18167506-18167507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140634203	chr11:18167553-18167554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369614945	chr11:18167575-18167576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561139188	chr11:18167629-18167630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4256954	chr11:18167630-18167631	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs144376226	chr11:18167657-18167658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs71457889	chr11:18167737-18167738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1455787	chr11:18167746-18167747	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs147833873	chr11:18167751-18167752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1455788	chr11:18167752-18167753	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs569278529	chr11:18167787-18167788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536702675	chr11:18167792-18167793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116589954	chr11:18167797-18167798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566655945	chr11:18167824-18167825	Weak transcription	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18165600-18166800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:18166000-18166800	ZNF genes & repeats	HMEC	breast
3	chr11:18166800-18168400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:18167400-18167800	Enhancers	Primary T cells fromperipheralblood	blood
5	chr11:18172400-18173600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr11:18172600-18173400	Enhancers	H9 Cell Line	embryonic stem cell
7	chr11:18172800-18174200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr11:18175200-18175400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:18177800-18178000	Enhancers	Pancreas	Pancrea
10	chr11:18180600-18180800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:18182000-18182200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:18186800-18187200	Active TSS	GM12878-XiMat	blood
13	chr11:18189800-18190200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:18189800-18190400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:18189800-18190400	Enhancers	NHEK	skin
16	chr11:18189800-18190600	Enhancers	HMEC	breast
17	chr11:18190000-18190600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:18193400-18195800	Enhancers	HepG2	liver
19	chr11:18194600-18195600	Enhancers	Primary B cells from peripheral blood	blood

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