Variant report

Variant	nsv975921
Chromosome Location	chr11:51411480-51451944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:51412634-51412675	GM13976	blood:	n/a	n/a
2	CTCF	chr11:51416253-51416312	GM13976	blood:	n/a	n/a
3	CTCF	chr11:51444498-51444564	GM13976	blood:	n/a	n/a
4	CTCF	chr11:51451910-51451957	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr11:51442196-51442231	LNCaP	prostate:	n/a	n/a
6	CTCF	chr11:51418602-51418695	Spleen_OC	spleen:	n/a	n/a
7	CTCF	chr11:51412215-51412230	GM13976	blood:	n/a	n/a
8	CTCF	chr11:51425405-51425449	Spleen_OC	spleen:	n/a	n/a
9	CTCF	chr11:51426649-51426735	GM13976	blood:	n/a	n/a
10	CTCF	chr11:51417744-51417793	LNCaP	prostate:	n/a	n/a
11	CTCF	chr11:51415163-51415223	LNCaP	prostate:	n/a	n/a
12	FOS	chr11:51451338-51451363	MCF10A-Er-Src	breast:	n/a	n/a
13	MAFF	chr11:51427959-51428122	K562	blood:	n/a	n/a
14	MAFK	chr11:51427934-51428149	HepG2	liver:	n/a	chr11:51427999-51428013 chr11:51428000-51428011 chr11:51428001-51428012
15	MAFK	chr11:51427958-51428110	IMR90	lung:	n/a	chr11:51427999-51428013 chr11:51428000-51428011 chr11:51428001-51428012
16	POLR2A	chr11:51435934-51436309	K562	blood:	n/a	n/a
17	POLR2A	chr11:51423699-51424078	K562	blood:	n/a	n/a
18	POLR2A	chr11:51451484-51451538	ProgFib	skin:	n/a	n/a
19	POLR2A	chr11:51448910-51448999	A549	lung:	n/a	n/a
20	POLR2A	chr11:51429755-51430137	K562	blood:	n/a	n/a
21	POLR2A	chr11:51437033-51437722	K562	blood:	n/a	n/a
22	POLR2A	chr11:51433024-51433214	K562	blood:	n/a	n/a
23	POLR2A	chr11:51428531-51429483	K562	blood:	n/a	n/a
24	POLR2A	chr11:51432073-51432443	K562	blood:	n/a	n/a
25	POLR2A	chr11:51441181-51441326	Gliobla	brain:	n/a	n/a
26	POLR2A	chr11:51426264-51426694	K562	blood:	n/a	n/a
27	POLR2A	chr11:51424802-51425180	K562	blood:	n/a	n/a
28	POLR2A	chr11:51435250-51435624	K562	blood:	n/a	n/a
29	POLR2A	chr11:51447713-51448100	K562	blood:	n/a	n/a
30	POLR2A	chr11:51434438-51434488	ProgFib	skin:	n/a	n/a
31	SPI1	chr11:51422879-51423046	GM12878	blood:	n/a	n/a
32	USF1	chr11:51447822-51447943	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:51413644-51413694	K562	blood:	n/a
2	chr11:51413644-51413694	RPTEC	kidney:	n/a
3	chr11:51411541-51411591	HNPCEpiC	eye:	n/a
4	chr11:51413644-51413694	HRE	kidney:	n/a
5	chr11:51413644-51413694	MCF10A-Er-Src	breast:	n/a
6	chr11:51411541-51411591	SAEC	small airway:	n/a
7	chr11:51411541-51411591	HepG2	liver:	n/a
8	chr11:51411541-51411591	NT2-D1	testis:	n/a
9	chr11:51411541-51411591	GM19239	blood:	n/a
10	chr11:51413644-51413694	NH-A	brain:	n/a
11	chr11:51411541-51411591	HRE	kidney:	n/a
12	chr11:51411541-51411591	HEEpiC	esophagus:	n/a
13	chr11:51411541-51411591	PANC-1	pancreas:	n/a
14	chr11:51411541-51411591	AG10803	skin:	n/a
15	chr11:51411541-51411591	HIPEpiC	eye:	n/a
16	chr11:51411541-51411591	SKMC	muscle:	n/a
17	chr11:51413644-51413694	HAEpiC	amniotic membrane:	n/a
18	chr11:51413644-51413694	HUVEC	blood vessel:	n/a
19	chr11:51411541-51411591	PFSK-1	brain:	n/a
20	chr11:51413644-51413694	HRCEpiC	kidney:	n/a
21	chr11:51413644-51413694	GM19239	blood:	n/a
22	chr11:51413644-51413694	HCF	heart:	n/a
23	chr11:51411541-51411591	AG09319	gingival:	n/a
24	chr11:51411541-51411591	GM06990	blood:	n/a
25	chr11:51411541-51411591	NHBE	bronchial:	n/a
26	chr11:51413644-51413694	Hela-S3	cervix:	n/a
27	chr11:51411541-51411591	HCM	heart:	n/a
28	chr11:51413644-51413694	HCPEpiC	choroid plexus:	n/a
29	chr11:51413644-51413694	T-47D	breast:	n/a
30	chr11:51411541-51411591	BE2_C	brain:	n/a
31	chr11:51413644-51413694	ECC-1	luminal epithelium:	n/a
32	chr11:51413644-51413694	HCM	heart:	n/a
33	chr11:51411541-51411591	AG04450	lung:	fetal
34	chr11:51413644-51413694	HRPEpiC	eye:	n/a
35	chr11:51413644-51413694	HL-60	blood:	n/a
36	chr11:51411541-51411591	HMEC	breast:	n/a
37	chr11:51411541-51411591	LNCaP	prostate:	n/a
38	chr11:51411541-51411591	NH-A	brain:	n/a
39	chr11:51411541-51411591	RPTEC	kidney:	n/a
40	chr11:51413644-51413694	NT2-D1	testis:	n/a
41	chr11:51413644-51413694	NHBE	bronchial:	n/a
42	chr11:51413644-51413694	HCT-116	colon:	n/a
43	chr11:51413644-51413694	SKMC	muscle:	n/a
44	chr11:51413644-51413694	HEEpiC	esophagus:	n/a
45	chr11:51411541-51411591	HCT-116	colon:	n/a
46	chr11:51413644-51413694	AG04450	lung:	fetal
47	chr11:51411541-51411591	Caco-2	colon:	n/a
48	chr11:51411541-51411591	U87	brain:	n/a
49	chr11:51411541-51411591	HAEpiC	amniotic membrane:	n/a
50	chr11:51411541-51411591	HRCEpiC	kidney:	n/a

No data

Variant related genes	Relation type
OR4A8P	TF binding region
OR4A5	TF binding region
OR4A7P	TF binding region
OR4A8P	CpG island
OR4A5	CpG island
OR4A7P	CpG island

Extended variants
information (count: 211 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:211 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559268887	chr11:51412643-51412644	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs367613168	chr11:51412648-51412649	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs112867531	chr11:51412658-51412659	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs541680797	chr11:51412665-51412666	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs575058520	chr11:51413669-51413670	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs545612942	chr11:51413670-51413671	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs182334879	chr11:51413674-51413675	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs572808057	chr11:51413677-51413678	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs540771333	chr11:51415168-51415169	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs569818080	chr11:51415177-51415178	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs537208469	chr11:51415179-51415180	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs558766916	chr11:51415222-51415223	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs540645780	chr11:51416287-51416288	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs187442138	chr11:51416288-51416289	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs564011684	chr11:51416290-51416291	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs533090376	chr11:51416292-51416293	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs537003877	chr11:51416300-51416301	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs146617591	chr11:51416309-51416310	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs570407217	chr11:51424204-51424205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534876279	chr11:51424240-51424241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78133563	chr11:51424255-51424256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374606820	chr11:51424264-51424265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568412635	chr11:51424265-51424266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535495912	chr11:51424273-51424274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557475270	chr11:51424283-51424284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575834328	chr11:51424284-51424285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146696227	chr11:51424287-51424288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377718885	chr11:51424289-51424290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573478846	chr11:51424298-51424299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11600221	chr11:51424321-51424322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540894517	chr11:51424333-51424334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562261717	chr11:51424334-51424335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs56181317	chr11:51424337-51424338	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs541491230	chr11:51424341-51424342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192420720	chr11:51424345-51424346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77660189	chr11:51424382-51424383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530562175	chr11:51424393-51424394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183322367	chr11:51424394-51424395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559317906	chr11:51424404-51424405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528295170	chr11:51424419-51424420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528468119	chr11:51424443-51424444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140314701	chr11:51424444-51424445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs61890358	chr11:51424450-51424451	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs551041782	chr11:51424460-51424461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558631069	chr11:51424484-51424485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188692751	chr11:51424488-51424489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192531317	chr11:51424505-51424506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565247401	chr11:51424510-51424511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558305345	chr11:51424542-51424543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145445106	chr11:51424552-51424553	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
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
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:51424200-51424600	Enhancers	Pancreatic Islets	Pancreatic Islet

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