Variant report

Variant	nsv971946
Chromosome Location	chr11:51378016-51458657
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:51402232-51402435	IMR90	lung:	n/a	n/a
2	CEBPB	chr11:51402176-51402431	A549	lung:	n/a	n/a
3	CTCF	chr11:51426649-51426735	GM13976	blood:	n/a	n/a
4	CTCF	chr11:51412634-51412675	GM13976	blood:	n/a	n/a
5	CTCF	chr11:51425405-51425449	Spleen_OC	spleen:	n/a	n/a
6	CTCF	chr11:51415163-51415223	LNCaP	prostate:	n/a	n/a
7	CTCF	chr11:51417744-51417793	LNCaP	prostate:	n/a	n/a
8	CTCF	chr11:51444498-51444564	GM13976	blood:	n/a	n/a
9	CTCF	chr11:51454243-51454342	GM20000	blood:	n/a	n/a
10	CTCF	chr11:51442196-51442231	LNCaP	prostate:	n/a	n/a
11	CTCF	chr11:51418602-51418695	Spleen_OC	spleen:	n/a	n/a
12	CTCF	chr11:51416253-51416312	GM13976	blood:	n/a	n/a
13	CTCF	chr11:51378106-51378166	GM10266	blood:	n/a	n/a
14	CTCF	chr11:51405020-51405170	HEK293	kidney:	n/a	n/a
15	CTCF	chr11:51412215-51412230	GM13976	blood:	n/a	n/a
16	CTCF	chr11:51451910-51451957	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr11:51407006-51407062	GM10248	blood:	n/a	n/a
18	CTCF	chr11:51401114-51401184	GM13976	blood:	n/a	n/a
19	FOS	chr11:51451338-51451363	MCF10A-Er-Src	breast:	n/a	n/a
20	GATA2	chr11:51398907-51399153	K562	blood:	n/a	n/a
21	MAFF	chr11:51427959-51428122	K562	blood:	n/a	n/a
22	MAFK	chr11:51427958-51428110	IMR90	lung:	n/a	chr11:51427999-51428013 chr11:51428000-51428011 chr11:51428001-51428012
23	MAFK	chr11:51427934-51428149	HepG2	liver:	n/a	chr11:51427999-51428013 chr11:51428000-51428011 chr11:51428001-51428012
24	MYC	chr11:51389489-51389537	K562	blood:	n/a	n/a
25	MYC	chr11:51379474-51379531	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:51457485-51457509	Gliobla	brain:	n/a	n/a
27	POLR2A	chr11:51424802-51425180	K562	blood:	n/a	n/a
28	POLR2A	chr11:51404688-51404692	Gliobla	brain:	n/a	n/a
29	POLR2A	chr11:51423699-51424078	K562	blood:	n/a	n/a
30	POLR2A	chr11:51432073-51432443	K562	blood:	n/a	n/a
31	POLR2A	chr11:51435250-51435624	K562	blood:	n/a	n/a
32	POLR2A	chr11:51426264-51426694	K562	blood:	n/a	n/a
33	POLR2A	chr11:51451484-51451538	ProgFib	skin:	n/a	n/a
34	POLR2A	chr11:51447713-51448100	K562	blood:	n/a	n/a
35	POLR2A	chr11:51435934-51436309	K562	blood:	n/a	n/a
36	POLR2A	chr11:51428531-51429483	K562	blood:	n/a	n/a
37	POLR2A	chr11:51397547-51397687	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr11:51448910-51448999	A549	lung:	n/a	n/a
39	POLR2A	chr11:51433024-51433214	K562	blood:	n/a	n/a
40	POLR2A	chr11:51437033-51437722	K562	blood:	n/a	n/a
41	POLR2A	chr11:51434438-51434488	ProgFib	skin:	n/a	n/a
42	POLR2A	chr11:51429755-51430137	K562	blood:	n/a	n/a
43	POLR2A	chr11:51441181-51441326	Gliobla	brain:	n/a	n/a
44	POLR2A	chr11:51457636-51457709	Gliobla	brain:	n/a	n/a
45	SPI1	chr11:51422879-51423046	GM12878	blood:	n/a	n/a
46	STAT3	chr11:51393217-51393236	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr11:51386998-51387032	MCF10A-Er-Src	breast:	n/a	n/a
48	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	chr11:51411541-51411591	ProgFib	skin:	n/a
2	chr11:51411541-51411591	MCF-7	breast:	n/a
3	chr11:51413644-51413694	AG09319	gingival:	n/a
4	chr11:51411541-51411591	GM12878	blood:	n/a
5	chr11:51411541-51411591	HNPCEpiC	eye:	n/a
6	chr11:51413644-51413694	A549	lung:	n/a
7	chr11:51413644-51413694	SK-N-SH	brain:	n/a
8	chr11:51413644-51413694	H1-hESC	embryonic stem cell:	embryo
9	chr11:51411541-51411591	ovcar-3	ovarian:	n/a
10	chr11:51413644-51413694	HCF	heart:	n/a
11	chr11:51413644-51413694	SKMC	muscle:	n/a
12	chr11:51411541-51411591	HCM	heart:	n/a
13	chr11:51413644-51413694	SK-N-SH_RA	brain:	n/a
14	chr11:51411541-51411591	GM06990	blood:	n/a
15	chr11:51411541-51411591	AG09319	gingival:	n/a
16	chr11:51411541-51411591	HPAEpiC	pulmonary alveolar:	n/a
17	chr11:51413644-51413694	AG10803	skin:	n/a
18	chr11:51411541-51411591	HRCEpiC	kidney:	n/a
19	chr11:51411541-51411591	PANC-1	pancreas:	n/a
20	chr11:51413644-51413694	ProgFib	skin:	n/a
21	chr11:51413644-51413694	PFSK-1	brain:	n/a
22	chr11:51411541-51411591	AG09309	skin:	n/a
23	chr11:51413644-51413694	HCT-116	colon:	n/a
24	chr11:51413644-51413694	AoSMC	blood vessel:	n/a
25	chr11:51413644-51413694	NT2-D1	testis:	n/a
26	chr11:51413644-51413694	ovcar-3	ovarian:	n/a
27	chr11:51411541-51411591	HCT-116	colon:	n/a
28	chr11:51411541-51411591	HCPEpiC	choroid plexus:	n/a
29	chr11:51413644-51413694	SAEC	small airway:	n/a
30	chr11:51411541-51411591	NH-A	brain:	n/a
31	chr11:51413644-51413694	BJ	skin:	n/a
32	chr11:51411541-51411591	SKMC	muscle:	n/a
33	chr11:51413644-51413694	PrEC	prostate:	n/a
34	chr11:51413644-51413694	HNPCEpiC	eye:	n/a
35	chr11:51411541-51411591	BJ	skin:	n/a
36	chr11:51413644-51413694	HL-60	blood:	n/a
37	chr11:51413644-51413694	Jurkat	blood:	n/a
38	chr11:51411541-51411591	GM12892	blood:	n/a
39	chr11:51411541-51411591	IMR90	lung:	fetal
40	chr11:51413644-51413694	NH-A	brain:	n/a
41	chr11:51411541-51411591	K562	blood:	n/a
42	chr11:51413644-51413694	GM12891	blood:	n/a
43	chr11:51411541-51411591	NHBE	bronchial:	n/a
44	chr11:51413644-51413694	GM12878	blood:	n/a
45	chr11:51411541-51411591	NHDF-neo	bronchial:	n/a
46	chr11:51413644-51413694	NB4	blood:	n/a
47	chr11:51411541-51411591	HAEpiC	amniotic membrane:	n/a
48	chr11:51411541-51411591	A549	lung:	n/a
49	chr11:51411541-51411591	Hepatocyte	liver:	n/a
50	chr11:51411541-51411591	Caco-2	colon:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4A5-2	chr11:51455830-51456700	NONHSAT021348

No data

Variant related genes	Relation type
OR4A3P	TF binding region
OR4A8P	TF binding region
OR4A7P	TF binding region
OR4R2P	TF binding region
OR4A5	TF binding region
OR4A6P	TF binding region
OR4A2P	TF binding region
OR4A3P	CpG island
OR4A8P	CpG island
OR4A7P	CpG island
OR4R2P	CpG island
OR4A5	CpG island
OR4A6P	CpG island
OR4A2P	CpG island

Extended variants
information (count: 689 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:689 , 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	rs561613883	chr11:51397553-51397554	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs150664486	chr11:51397653-51397654	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs544258115	chr11:51397667-51397668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs139917937	chr11:51397678-51397679	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs377731048	chr11:51397685-51397686	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs531455009	chr11:51398210-51398211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549817659	chr11:51398215-51398216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147853077	chr11:51398231-51398232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538703358	chr11:51398234-51398235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550419799	chr11:51398250-51398251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540216	chr11:51398260-51398261	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs138336543	chr11:51398279-51398280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7120716	chr11:51398302-51398303	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs76578807	chr11:51398327-51398328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567498792	chr11:51398335-51398336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544051923	chr11:51398336-51398337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559025809	chr11:51398348-51398349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577547303	chr11:51398363-51398364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188213312	chr11:51398366-51398367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559735349	chr11:51398370-51398371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571780441	chr11:51398374-51398375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536537120	chr11:51398415-51398416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141529368	chr11:51398435-51398436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560710058	chr11:51398437-51398438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372186982	chr11:51398442-51398443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10719230	chr11:51398443-51398444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531447966	chr11:51398445-51398446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149341904	chr11:51398446-51398447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs199685873	chr11:51398454-51398455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550045804	chr11:51398460-51398461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192770006	chr11:51398465-51398466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546914302	chr11:51398479-51398480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143106276	chr11:51398480-51398481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547439758	chr11:51398487-51398488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551709773	chr11:51398491-51398492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536694684	chr11:51398493-51398494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542471331	chr11:51398503-51398504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565937977	chr11:51398522-51398523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535020683	chr11:51398536-51398537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146179056	chr11:51398554-51398555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184360651	chr11:51398559-51398560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557931077	chr11:51398579-51398580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559189038	chr11:51398582-51398583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577434542	chr11:51398596-51398597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535351735	chr11:51398619-51398620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187666936	chr11:51398621-51398622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs193218443	chr11:51398671-51398672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542306100	chr11:51398699-51398700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577731221	chr11:51398726-51398727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368661418	chr11:51398742-51398743	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
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
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
Breast cancer	16608533	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
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Mortal	21835882	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:51398200-51400000	Enhancers	Dnd41	blood
2	chr11:51424200-51424600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr11:51453800-51458800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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