Variant report

Variant	nsv971991
Chromosome Location	chr11:18189697-18200475
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	CREB1	chr11:18192998-18193199	A549	lung:	n/a	n/a
5	CTCF	chr11:18193060-18193210	GM12878	blood:	n/a	chr11:18193103-18193112
6	CTCF	chr11:18193060-18193210	HCT-116	colon:	n/a	chr11:18193103-18193112
7	CTCF	chr11:18193000-18193150	HPAF	blood vessel:	n/a	chr11:18193103-18193112
8	CTCF	chr11:18193320-18193442	HepG2	liver:	n/a	n/a
9	CTCF	chr11:18193060-18193210	A549	lung:	n/a	chr11:18193103-18193112
10	CTCF	chr11:18193040-18193190	HAc	cerebellar:	n/a	chr11:18193103-18193112
11	CTCF	chr11:18193060-18193210	HCM	heart:	n/a	chr11:18193103-18193112
12	CTCF	chr11:18193040-18193190	GM12864	blood:	n/a	chr11:18193103-18193112
13	CTCF	chr11:18192976-18193223	NHEK	skin:	n/a	chr11:18193103-18193112
14	CTCF	chr11:18193100-18193250	Hela-S3	cervix:	n/a	chr11:18193103-18193112
15	CTCF	chr11:18192967-18193232	GM19238	blood:	n/a	chr11:18193103-18193112
16	CTCF	chr11:18193060-18193210	BE2_C	brain:	n/a	chr11:18193103-18193112
17	CTCF	chr11:18193080-18193230	NHEK	skin:	n/a	chr11:18193103-18193112
18	CTCF	chr11:18192984-18193216	MCF-7	breast:	n/a	chr11:18193103-18193112
19	CTCF	chr11:18192785-18193591	HCT-116	colon:	n/a	chr11:18193103-18193112
20	CTCF	chr11:18193040-18193190	HFF	foreskin:	n/a	chr11:18193103-18193112
21	CTCF	chr11:18193040-18193190	GM12872	blood:	n/a	chr11:18193103-18193112
22	CTCF	chr11:18193020-18193170	HMEC	breast:	n/a	chr11:18193103-18193112
23	CTCF	chr11:18192980-18193310	H1-hESC	embryonic stem cell:	n/a	chr11:18193103-18193112
24	CTCF	chr11:18193060-18193210	SAEC	small airway:	n/a	chr11:18193103-18193112
25	CTCF	chr11:18193020-18193170	GM06990	blood:	n/a	chr11:18193103-18193112
26	CTCF	chr11:18193060-18193210	AG04450	lung:	n/a	chr11:18193103-18193112
27	CTCF	chr11:18192927-18193279	K562	blood:	n/a	chr11:18193103-18193112
28	CTCF	chr11:18193060-18193210	GM12801	blood:	n/a	chr11:18193103-18193112
29	CTCF	chr11:18192802-18193485	SK-N-SH	brain:	n/a	chr11:18193103-18193112
30	CTCF	chr11:18193120-18193270	HAc	cerebellar:	n/a	n/a
31	CTCF	chr11:18193040-18193190	AG04450	lung:	n/a	chr11:18193103-18193112
32	CTCF	chr11:18193000-18193150	WERI-Rb-1	eye:	n/a	chr11:18193103-18193112
33	CTCF	chr11:18193008-18193203	GM13976	blood:	n/a	chr11:18193103-18193112
34	CTCF	chr11:18193040-18193190	HVMF	connective:	n/a	chr11:18193103-18193112
35	CTCF	chr11:18193040-18193190	Caco-2	colon:	n/a	chr11:18193103-18193112
36	CTCF	chr11:18193040-18193190	HCFaa	heart:	n/a	chr11:18193103-18193112
37	CTCF	chr11:18192981-18193225	GM19240	blood:	n/a	chr11:18193103-18193112
38	CTCF	chr11:18193020-18193170	GM12870	blood:	n/a	chr11:18193103-18193112
39	CTCF	chr11:18193020-18193170	HA-sp	spinal cord:	n/a	chr11:18193103-18193112
40	CTCF	chr11:18193040-18193190	GM12874	blood:	n/a	chr11:18193103-18193112
41	CTCF	chr11:18193020-18193170	HPF	lung:	n/a	chr11:18193103-18193112
42	CTCF	chr11:18193020-18193170	RPTEC	kidney:	n/a	chr11:18193103-18193112
43	CTCF	chr11:18192980-18193130	HRE	kidney:	n/a	chr11:18193103-18193112
44	CTCF	chr11:18192740-18192890	AG09309	skin:	n/a	n/a
45	CTCF	chr11:18192660-18192810	HPAF	blood vessel:	n/a	n/a
46	CTCF	chr11:18193040-18193190	GM12875	blood:	n/a	chr11:18193103-18193112
47	CTCF	chr11:18193040-18193190	HCT-116	colon:	n/a	chr11:18193103-18193112
48	CTCF	chr11:18193020-18193170	GM12868	blood:	n/a	chr11:18193103-18193112
49	CTCF	chr11:18193000-18193150	HUVEC	blood vessel:	n/a	chr11:18193103-18193112
50	CTCF	chr11:18192560-18192850	GM12872	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:18193422-18193472	HRCEpiC	kidney:	n/a
2	chr11:18194514-18194564	HCT-116	colon:	n/a
3	chr11:18195086-18195136	CMK	blood:	n/a
4	chr11:18193674-18193724	AG04450	lung:	fetal
5	chr11:18194904-18194954	HCPEpiC	choroid plexus:	n/a
6	chr11:18193422-18193472	MCF10A-Er-Src	breast:	n/a
7	chr11:18194904-18194954	PANC-1	pancreas:	n/a
8	chr11:18194514-18194564	CMK	blood:	n/a
9	chr11:18194514-18194564	ProgFib	skin:	n/a
10	chr11:18194514-18194564	HNPCEpiC	eye:	n/a
11	chr11:18193422-18193472	GM06990	blood:	n/a
12	chr11:18193422-18193472	PFSK-1	brain:	n/a
13	chr11:18193422-18193472	GM12891	blood:	n/a
14	chr11:18194904-18194954	MCF-7	breast:	n/a
15	chr11:18193422-18193472	GM12892	blood:	n/a
16	chr11:18194904-18194954	SK-N-MC	brain:	n/a
17	chr11:18193422-18193472	NH-A	brain:	n/a
18	chr11:18195086-18195136	ovcar-3	ovarian:	n/a
19	chr11:18194904-18194954	ECC-1	luminal epithelium:	n/a
20	chr11:18194904-18194954	LNCaP	prostate:	n/a
21	chr11:18194514-18194564	PrEC	prostate:	n/a
22	chr11:18193422-18193472	PANC-1	pancreas:	n/a
23	chr11:18193422-18193472	MCF-7	breast:	n/a
24	chr11:18193674-18193724	AG09309	skin:	n/a
25	chr11:18194904-18194954	GM12891	blood:	n/a
26	chr11:18194904-18194954	A549	lung:	n/a
27	chr11:18193422-18193472	HCM	heart:	n/a
28	chr11:18195086-18195136	NB4	blood:	n/a
29	chr11:18193674-18193724	MCF-7	breast:	n/a
30	chr11:18193360-18193410	HRPEpiC	eye:	n/a
31	chr11:18193674-18193724	ECC-1	luminal epithelium:	n/a
32	chr11:18195086-18195136	SAEC	small airway:	n/a
33	chr11:18194904-18194954	AG09309	skin:	n/a
34	chr11:18195086-18195136	BE2_C	brain:	n/a
35	chr11:18195086-18195136	A549	lung:	n/a
36	chr11:18195086-18195136	NT2-D1	testis:	n/a
37	chr11:18193674-18193724	BJ	skin:	n/a
38	chr11:18193422-18193472	Caco-2	colon:	n/a
39	chr11:18193674-18193724	U87	brain:	n/a
40	chr11:18193674-18193724	SK-N-SH_RA	brain:	n/a
41	chr11:18193422-18193472	BE2_C	brain:	n/a
42	chr11:18195086-18195136	BJ	skin:	n/a
43	chr11:18194514-18194564	NHBE	bronchial:	n/a
44	chr11:18193360-18193410	AG09309	skin:	n/a
45	chr11:18195086-18195136	HCT-116	colon:	n/a
46	chr11:18194904-18194954	GM12892	blood:	n/a
47	chr11:18193674-18193724	HL-60	blood:	n/a
48	chr11:18195086-18195136	HUVEC	blood vessel:	n/a
49	chr11:18195086-18195136	GM12892	blood:	n/a
50	chr11:18193674-18193724	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:18193078..18193637-chr11:18785527..18786047,2	K562	blood:
2	chr11:18137193..18137763-chr11:18192627..18193399,2	MCF-7	breast:
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:

Variant related genes	Relation type
ENSG00000221037	TF binding region
MRGPRX4	TF binding region
ENSG00000221037	CpG island
MRGPRX4	CpG island
ENSG00000166787	chromatin interactions

Extended variants
information (count: 286 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558919066	chr11:18189829-18189830	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs182053777	chr11:18189837-18189838	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs529948611	chr11:18189843-18189844	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs10832893	chr11:18189856-18189857	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs555919707	chr11:18189885-18189886	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs529122504	chr11:18189892-18189893	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs566465935	chr11:18189932-18189933	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs187216512	chr11:18189933-18189934	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs542023351	chr11:18189934-18189935	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs560163117	chr11:18189942-18189943	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs2468851	chr11:18189953-18189954	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs188942675	chr11:18189963-18189964	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs139617733	chr11:18189972-18189973	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs2445187	chr11:18189988-18189989	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs181434247	chr11:18190000-18190001	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs568174289	chr11:18190057-18190058	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs374241169	chr11:18190115-18190116	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs185523596	chr11:18190168-18190169	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs190056316	chr11:18190184-18190185	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs567012529	chr11:18190195-18190196	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs534549202	chr11:18190204-18190205	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs182970725	chr11:18190211-18190212	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs570541123	chr11:18190236-18190237	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs537934158	chr11:18190245-18190246	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs556205453	chr11:18190251-18190252	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs574617430	chr11:18190254-18190255	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs541616021	chr11:18190264-18190265	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs111321464	chr11:18190269-18190270	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs1840598	chr11:18190275-18190276	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs546105916	chr11:18190291-18190292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145628245	chr11:18190293-18190294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531295867	chr11:18190327-18190328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185951291	chr11:18190331-18190332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79061159	chr11:18190375-18190376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372840666	chr11:18190396-18190397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1840597	chr11:18190403-18190404	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs536094650	chr11:18190420-18190421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34182654	chr11:18190422-18190423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560783585	chr11:18190470-18190471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527958057	chr11:18190489-18190490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552486997	chr11:18190503-18190504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1455790	chr11:18190532-18190533	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs72864854	chr11:18190537-18190538	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs546541836	chr11:18190574-18190575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549769831	chr11:18190599-18190600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2468853	chr11:18190823-18190824	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs115249496	chr11:18190827-18190828	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs141291757	chr11:18190841-18190842	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs541150081	chr11:18190859-18190860	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs560506440	chr11:18190887-18190888	Inactive region	TF binding region	1 gene(s)	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18189800-18190200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:18189800-18190400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:18189800-18190400	Enhancers	NHEK	skin
4	chr11:18189800-18190600	Enhancers	HMEC	breast
5	chr11:18190000-18190600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:18193400-18195800	Enhancers	HepG2	liver
7	chr11:18194600-18195600	Enhancers	Primary B cells from peripheral blood	blood
8	chr11:18199600-18200000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:18199800-18200000	Bivalent/Poised TSS	Lung	lung

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