Variant report

Variant	nsv1038257
Chromosome Location	chr11:18169410-18198309
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:18194351-18194592	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:18193081-18193472	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	chr11:18193020-18193170	HMEC	breast:	n/a	chr11:18193103-18193112
7	CTCF	chr11:18192930-18193349	A549	lung:	n/a	chr11:18193103-18193112
8	CTCF	chr11:18193020-18193170	HPAF	blood vessel:	n/a	chr11:18193103-18193112
9	CTCF	chr11:18192440-18192590	NHDF-neo	bronchial:	n/a	n/a
10	CTCF	chr11:18193020-18193170	AG04449	skin:	n/a	chr11:18193103-18193112
11	CTCF	chr11:18193080-18193230	HRE	kidney:	n/a	chr11:18193103-18193112
12	CTCF	chr11:18193040-18193190	RPTEC	kidney:	n/a	chr11:18193103-18193112
13	CTCF	chr11:18193300-18193452	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr11:18192560-18192850	GM12872	blood:	n/a	n/a
15	CTCF	chr11:18193040-18193190	HCT-116	colon:	n/a	chr11:18193103-18193112
16	CTCF	chr11:18193040-18193190	GM12875	blood:	n/a	chr11:18193103-18193112
17	CTCF	chr11:18193040-18193190	GM12878	blood:	n/a	chr11:18193103-18193112
18	CTCF	chr11:18193000-18193150	HUVEC	blood vessel:	n/a	chr11:18193103-18193112
19	CTCF	chr11:18193060-18193210	BE2_C	brain:	n/a	chr11:18193103-18193112
20	CTCF	chr11:18169900-18170050	K562	blood:	n/a	n/a
21	CTCF	chr11:18193060-18193210	HVMF	connective:	n/a	chr11:18193103-18193112
22	CTCF	chr11:18193040-18193190	GM12868	blood:	n/a	chr11:18193103-18193112
23	CTCF	chr11:18192740-18192890	AG09309	skin:	n/a	n/a
24	CTCF	chr11:18193020-18193170	AG09309	skin:	n/a	chr11:18193103-18193112
25	CTCF	chr11:18193040-18193190	HEK293	kidney:	n/a	chr11:18193103-18193112
26	CTCF	chr11:18193000-18193150	GM12873	blood:	n/a	chr11:18193103-18193112
27	CTCF	chr11:18193020-18193170	MCF-7	breast:	n/a	chr11:18193103-18193112
28	CTCF	chr11:18193040-18193190	Caco-2	colon:	n/a	chr11:18193103-18193112
29	CTCF	chr11:18193340-18193490	HCT-116	colon:	n/a	n/a
30	CTCF	chr11:18192981-18193222	MCF-7	breast:	n/a	chr11:18193103-18193112
31	CTCF	chr11:18193040-18193190	HFF	foreskin:	n/a	chr11:18193103-18193112
32	CTCF	chr11:18192916-18193345	K562	blood:	n/a	chr11:18193103-18193112
33	CTCF	chr11:18192837-18193395	MCF-7	breast:	n/a	chr11:18193103-18193112
34	CTCF	chr11:18193060-18193210	GM12801	blood:	n/a	chr11:18193103-18193112
35	CTCF	chr11:18193000-18193150	WI-38	lung:	n/a	chr11:18193103-18193112
36	CTCF	chr11:18192981-18193234	GM12878	blood:	n/a	chr11:18193103-18193112
37	CTCF	chr11:18193020-18193170	HA-sp	spinal cord:	n/a	chr11:18193103-18193112
38	CTCF	chr11:18193020-18193170	GM12864	blood:	n/a	chr11:18193103-18193112
39	CTCF	chr11:18193354-18193411	Gliobla	brain:	n/a	n/a
40	CTCF	chr11:18193060-18193210	HCT-116	colon:	n/a	chr11:18193103-18193112
41	CTCF	chr11:18193040-18193190	NHLF	lung:	n/a	chr11:18193103-18193112
42	CTCF	chr11:18192980-18193250	SK-N-SH_RA	brain:	n/a	chr11:18193103-18193112
43	CTCF	chr11:18193020-18193170	GM12865	blood:	n/a	chr11:18193103-18193112
44	CTCF	chr11:18193040-18193190	MCF-7	breast:	n/a	chr11:18193103-18193112
45	CTCF	chr11:18192967-18193232	GM19238	blood:	n/a	chr11:18193103-18193112
46	CTCF	chr11:18192885-18193491	HepG2	liver:	n/a	chr11:18193103-18193112
47	CTCF	chr11:18193040-18193190	GM12874	blood:	n/a	chr11:18193103-18193112
48	CTCF	chr11:18192991-18193211	MCF-7	breast:	n/a	chr11:18193103-18193112
49	CTCF	chr11:18192785-18193591	HCT-116	colon:	n/a	chr11:18193103-18193112
50	CTCF	chr11:18193040-18193190	GM12872	blood:	n/a	chr11:18193103-18193112

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:18193422-18193472	MCF10A-Er-Src	breast:	n/a
2	chr11:18194904-18194954	ECC-1	luminal epithelium:	n/a
3	chr11:18193360-18193410	Jurkat	blood:	n/a
4	chr11:18194514-18194564	NHBE	bronchial:	n/a
5	chr11:18172905-18172955	HIPEpiC	eye:	n/a
6	chr11:18193422-18193472	SK-N-SH	brain:	n/a
7	chr11:18172905-18172955	PFSK-1	brain:	n/a
8	chr11:18195086-18195136	PrEC	prostate:	n/a
9	chr11:18194514-18194564	PrEC	prostate:	n/a
10	chr11:18194904-18194954	SK-N-SH_RA	brain:	n/a
11	chr11:18193422-18193472	HRCEpiC	kidney:	n/a
12	chr11:18193674-18193724	NHBE	bronchial:	n/a
13	chr11:18172905-18172955	MCF10A-Er-Src	breast:	n/a
14	chr11:18172905-18172955	GM06990	blood:	n/a
15	chr11:18194514-18194564	HL-60	blood:	n/a
16	chr11:18193360-18193410	HEEpiC	esophagus:	n/a
17	chr11:18195086-18195136	GM12878	blood:	n/a
18	chr11:18194514-18194564	HRCEpiC	kidney:	n/a
19	chr11:18172905-18172955	ovcar-3	ovarian:	n/a
20	chr11:18194514-18194564	Jurkat	blood:	n/a
21	chr11:18195086-18195136	HIPEpiC	eye:	n/a
22	chr11:18172905-18172955	HUVEC	blood vessel:	n/a
23	chr11:18194904-18194954	AG04449	skin:	fetal
24	chr11:18194904-18194954	HRE	kidney:	n/a
25	chr11:18193360-18193410	HPAEpiC	pulmonary alveolar:	n/a
26	chr11:18172905-18172955	H1-hESC	embryonic stem cell:	embryo
27	chr11:18193360-18193410	BE2_C	brain:	n/a
28	chr11:18194514-18194564	A549	lung:	n/a
29	chr11:18193422-18193472	PrEC	prostate:	n/a
30	chr11:18172905-18172955	PANC-1	pancreas:	n/a
31	chr11:18194514-18194564	HCF	heart:	n/a
32	chr11:18172905-18172955	AG09309	skin:	n/a
33	chr11:18193422-18193472	HAEpiC	amniotic membrane:	n/a
34	chr11:18194514-18194564	HEEpiC	esophagus:	n/a
35	chr11:18194514-18194564	PANC-1	pancreas:	n/a
36	chr11:18193360-18193410	HCT-116	colon:	n/a
37	chr11:18194904-18194954	U87	brain:	n/a
38	chr11:18194904-18194954	H1-hESC	embryonic stem cell:	embryo
39	chr11:18193422-18193472	HIPEpiC	eye:	n/a
40	chr11:18195086-18195136	NH-A	brain:	n/a
41	chr11:18193360-18193410	NHDF-neo	bronchial:	n/a
42	chr11:18172905-18172955	SK-N-MC	brain:	n/a
43	chr11:18194904-18194954	ProgFib	skin:	n/a
44	chr11:18194904-18194954	Jurkat	blood:	n/a
45	chr11:18194904-18194954	ovcar-3	ovarian:	n/a
46	chr11:18193422-18193472	K562	blood:	n/a
47	chr11:18193360-18193410	CMK	blood:	n/a
48	chr11:18193674-18193724	A549	lung:	n/a
49	chr11:18193360-18193410	IMR90	lung:	fetal
50	chr11:18193422-18193472	GM12891	blood:	n/a

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

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

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: 559 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:559 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537165203	chr11:18169836-18169837	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs78169497	chr11:18169837-18169838	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs575094589	chr11:18169841-18169842	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs373842839	chr11:18169865-18169866	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs185236931	chr11:18169869-18169870	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs560869556	chr11:18169878-18169879	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs572333998	chr11:18169889-18169890	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs369313096	chr11:18169974-18169975	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs1378607	chr11:18169982-18169983	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs191225603	chr11:18170000-18170001	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs111296602	chr11:18170004-18170005	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs1378608	chr11:18170030-18170031	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs140596324	chr11:18171493-18171494	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs569978522	chr11:18171506-18171507	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs537368328	chr11:18171569-18171570	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs555683867	chr11:18171592-18171593	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs573960227	chr11:18171624-18171625	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs148444078	chr11:18172430-18172431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374628738	chr11:18172432-18172433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553415068	chr11:18172442-18172443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368157309	chr11:18172451-18172452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181278745	chr11:18172481-18172482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539139485	chr11:18172502-18172503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75856197	chr11:18172560-18172561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557153069	chr11:18172569-18172570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372407007	chr11:18172581-18172582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17566849	chr11:18172582-18172583	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs554596687	chr11:18172608-18172609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568893540	chr11:18172653-18172654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76813219	chr11:18172654-18172655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142617539	chr11:18172681-18172682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532028812	chr11:18172699-18172700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543909028	chr11:18172708-18172709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2403250	chr11:18172727-18172728	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs183953818	chr11:18172730-18172731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549629824	chr11:18172732-18172733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567897430	chr11:18172733-18172734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188310945	chr11:18172740-18172741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35040017	chr11:18172743-18172744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369927272	chr11:18172793-18172794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546632426	chr11:18172805-18172806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10832890	chr11:18172814-18172815	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs535554237	chr11:18172845-18172846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545856057	chr11:18172858-18172859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs180673796	chr11:18172877-18172878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533815144	chr11:18172883-18172884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187297791	chr11:18172891-18172892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192141818	chr11:18172965-18172966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377244531	chr11:18173054-18173055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554767070	chr11:18173077-18173078	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:15 , 50 per page) page: 1

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

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