Variant report

Variant	nsv896942
Chromosome Location	chr11:5583188-5597633
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	chr11:5596490-5596495	K562	blood:	n/a	n/a
2	ATF1	chr11:5585612-5585852	K562	blood:	n/a	n/a
3	BHLHE40	chr11:5585538-5585840	K562	blood:	n/a	n/a
4	CEBPB	chr11:5585596-5586175	IMR90	lung:	n/a	n/a
5	CEBPB	chr11:5585652-5586232	K562	blood:	n/a	n/a
6	CEBPB	chr11:5586026-5586082	A549	lung:	n/a	n/a
7	CTCF	chr11:5592735-5592768	GM13977	blood:	n/a	n/a
8	CTCF	chr11:5583213-5583248	GM20000	blood:	n/a	n/a
9	CTCF	chr11:5584440-5584590	HAc	cerebellar:	n/a	n/a
10	CTCF	chr11:5591027-5591085	GM13976	blood:	n/a	n/a
11	CUX1	chr11:5596522-5596620	K562	blood:	n/a	n/a
12	EP300	chr11:5586034-5586177	K562	blood:	n/a	n/a
13	FAM48A	chr11:5597131-5597223	GM12878	blood:	n/a	n/a
14	FOS	chr11:5585613-5585949	MCF10A-Er-Src	breast:	n/a	chr11:5585787-5585797 chr11:5585789-5585800 chr11:5585786-5585798 chr11:5585788-5585796
15	FOS	chr11:5585659-5585858	MCF10A-Er-Src	breast:	n/a	chr11:5585787-5585797 chr11:5585789-5585800 chr11:5585786-5585798 chr11:5585788-5585796
16	FOS	chr11:5585607-5585949	MCF10A-Er-Src	breast:	n/a	chr11:5585787-5585797 chr11:5585789-5585800 chr11:5585786-5585798 chr11:5585788-5585796
17	FOS	chr11:5595675-5595901	MCF10A-Er-Src	breast:	n/a	chr11:5595767-5595777 chr11:5595769-5595776 chr11:5595768-5595777 chr11:5595768-5595776 chr11:5595766-5595778
18	FOS	chr11:5585608-5585943	MCF10A-Er-Src	breast:	n/a	chr11:5585787-5585797 chr11:5585789-5585800 chr11:5585786-5585798 chr11:5585788-5585796
19	GABPA	chr11:5585918-5586241	HL-60	blood:	n/a	n/a
20	GABPA	chr11:5585681-5586328	HL-60	blood:	n/a	n/a
21	JUN	chr11:5585713-5585854	HepG2	liver:	n/a	chr11:5585787-5585797 chr11:5585789-5585800 chr11:5585786-5585798 chr11:5585788-5585796 chr11:5585732-5585745
22	JUND	chr11:5593844-5594011	HepG2	liver:	n/a	chr11:5593859-5593870
23	JUND	chr11:5585590-5585872	K562	blood:	n/a	chr11:5585787-5585797 chr11:5585789-5585800 chr11:5585786-5585798 chr11:5585788-5585796
24	JUND	chr11:5595665-5595848	HepG2	liver:	n/a	chr11:5595767-5595777 chr11:5595769-5595776 chr11:5595766-5595777 chr11:5595768-5595777 chr11:5595768-5595776 chr11:5595766-5595778
25	MAFK	chr11:5583822-5583875	K562	blood:	n/a	n/a
26	MAFK	chr11:5583716-5583940	HepG2	liver:	n/a	n/a
27	MAFK	chr11:5588079-5588090	HepG2	liver:	n/a	n/a
28	MAX	chr11:5585471-5585808	K562	blood:	n/a	chr11:5585788-5585797
29	MAX	chr11:5585435-5585792	K562	blood:	n/a	n/a
30	MYC	chr11:5585620-5585795	MCF10A-Er-Src	breast:	n/a	n/a
31	MYC	chr11:5585492-5585852	K562	blood:	n/a	chr11:5585788-5585797
32	MYC	chr11:5596503-5596632	K562	blood:	n/a	n/a
33	POLR2A	chr11:5588490-5588622	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr11:5590085-5590120	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr11:5588933-5588999	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr11:5588087-5588173	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:5590700-5590728	A549	lung:	n/a	n/a
38	POLR2A	chr11:5585994-5586184	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr11:5590595-5590697	A549	lung:	n/a	n/a
40	RCOR1	chr11:5585526-5585762	K562	blood:	n/a	n/a
41	RFX5	chr11:5583220-5583280	K562	blood:	n/a	n/a
42	SPI1	chr11:5585909-5586264	HL-60	blood:	n/a	n/a
43	STAT3	chr11:5586817-5586919	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT3	chr11:5585017-5585094	MCF10A-Er-Src	breast:	n/a	n/a
45	USF1	chr11:5585465-5585819	K562	blood:	n/a	n/a
46	USF2	chr11:5585664-5585749	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5586092-5586142	SKMC	muscle:	n/a
2	chr11:5586092-5586142	NHBE	bronchial:	n/a
3	chr11:5586092-5586142	HRCEpiC	kidney:	n/a
4	chr11:5586092-5586142	HNPCEpiC	eye:	n/a
5	chr11:5586092-5586142	K562	blood:	n/a
6	chr11:5586092-5586142	HPAEpiC	pulmonary alveolar:	n/a
7	chr11:5586092-5586142	PrEC	prostate:	n/a
8	chr11:5586092-5586142	RPTEC	kidney:	n/a
9	chr11:5586092-5586142	AG10803	skin:	n/a
10	chr11:5586092-5586142	Hela-S3	cervix:	n/a
11	chr11:5586092-5586142	GM12891	blood:	n/a
12	chr11:5586092-5586142	HEEpiC	esophagus:	n/a
13	chr11:5586092-5586142	PANC-1	pancreas:	n/a
14	chr11:5586092-5586142	SK-N-MC	brain:	n/a
15	chr11:5586092-5586142	NB4	blood:	n/a
16	chr11:5586092-5586142	HCF	heart:	n/a
17	chr11:5586092-5586142	AG04449	skin:	fetal
18	chr11:5586092-5586142	Jurkat	blood:	n/a
19	chr11:5586092-5586142	CMK	blood:	n/a
20	chr11:5586092-5586142	ovcar-3	ovarian:	n/a
21	chr11:5586092-5586142	GM19239	blood:	n/a
22	chr11:5586092-5586142	BJ	skin:	n/a
23	chr11:5586092-5586142	NHDF-neo	bronchial:	n/a
24	chr11:5586092-5586142	HEK293	kidney:	embryo
25	chr11:5586092-5586142	Caco-2	colon:	n/a
26	chr11:5586092-5586142	MCF10A-Er-Src	breast:	n/a
27	chr11:5586092-5586142	IMR90	lung:	fetal
28	chr11:5586092-5586142	A549	lung:	n/a
29	chr11:5586092-5586142	SK-N-SH	brain:	n/a
30	chr11:5586092-5586142	AG04450	lung:	fetal
31	chr11:5586092-5586142	ECC-1	luminal epithelium:	n/a
32	chr11:5586092-5586142	T-47D	breast:	n/a
33	chr11:5586092-5586142	HMEC	breast:	n/a
34	chr11:5586092-5586142	SAEC	small airway:	n/a
35	chr11:5586092-5586142	ProgFib	skin:	n/a
36	chr11:5586092-5586142	HUVEC	blood vessel:	n/a
37	chr11:5586092-5586142	SK-N-SH_RA	brain:	n/a
38	chr11:5586092-5586142	HCPEpiC	choroid plexus:	n/a
39	chr11:5586092-5586142	H1-hESC	embryonic stem cell:	embryo
40	chr11:5586092-5586142	Hepatocyte	liver:	n/a
41	chr11:5586092-5586142	HCM	heart:	n/a
42	chr11:5586092-5586142	HCT-116	colon:	n/a
43	chr11:5586092-5586142	HRE	kidney:	n/a
44	chr11:5586092-5586142	NH-A	brain:	n/a
45	chr11:5586092-5586142	HAEpiC	amniotic membrane:	n/a
46	chr11:5586092-5586142	GM06990	blood:	n/a
47	chr11:5586092-5586142	AoSMC	blood vessel:	n/a
48	chr11:5586092-5586142	HepG2	liver:	n/a
49	chr11:5586092-5586142	NT2-D1	testis:	n/a
50	chr11:5586092-5586142	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:5586226..5588245-chr11:5593204..5595737,2	K562	blood:
2	11:5586716-5591774..11:5721056-5732713	GM12878	blood:
3	chr11:5525343..5528294-chr11:5586982..5589014,2	K562	blood:
4	chr11:5575874..5577809-chr11:5596077..5598806,2	K562	blood:
5	chr11:5589762..5591373-chr11:5592341..5593906,2	K562	blood:
6	chr11:5596022..5597747-chr11:5617441..5619475,2	K562	blood:
7	chr11:5597058..5599550-chr11:5606801..5608748,2	K562	blood:
8	chr11:5585379..5587607-chr11:5588466..5590409,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR52H1-1	chr11:5593552-5593829	ENSG00000239920.1

Variant related genes	Relation type
OR52T1P	TF binding region
OR52B6	TF binding region
HNRNPA1P53	TF binding region
OR52T1P	CpG island
OR52B6	CpG island
HNRNPA1P53	CpG island
ENSG00000229534	chromatin interactions
ENSG00000258588	chromatin interactions
ENSG00000196565	chromatin interactions
ENSG00000132274	chromatin interactions
ENSG00000167355	chromatin interactions
ENSG00000233646	chromatin interactions
ENSG00000213931	chromatin interactions
ENSG00000121236	chromatin interactions

Extended variants
information (count: 361 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76364266	chr11:5585393-5585394	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs535730073	chr11:5585416-5585417	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs578139113	chr11:5585475-5585476	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs71490138	chr11:5585530-5585531	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545579272	chr11:5585540-5585541	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs537379416	chr11:5585598-5585599	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568414068	chr11:5585611-5585612	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs16932946	chr11:5585716-5585717	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs10838341	chr11:5585744-5585745	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs560918978	chr11:5585768-5585769	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs186169348	chr11:5585774-5585775	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs550044192	chr11:5585777-5585778	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192117642	chr11:5585787-5585788	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs113959292	chr11:5585819-5585820	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs183619206	chr11:5585847-5585848	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs10769072	chr11:5585884-5585885	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs68177612	chr11:5585897-5585898	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs536519475	chr11:5585933-5585934	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs554880541	chr11:5585940-5585941	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs569582915	chr11:5586032-5586033	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs28479272	chr11:5586081-5586082	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs73396360	chr11:5586093-5586094	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs188204479	chr11:5586111-5586112	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs572546376	chr11:5586159-5586160	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs10742718	chr11:5586168-5586169	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs28377692	chr11:5586172-5586173	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs372196743	chr11:5586174-5586175	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs191866820	chr11:5586198-5586199	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs182843540	chr11:5586222-5586223	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs10742719	chr11:5586252-5586253	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs561611150	chr11:5586295-5586296	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs10742720	chr11:5586297-5586298	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs10742721	chr11:5586318-5586319	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs372414517	chr11:5586371-5586372	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs10742722	chr11:5586372-5586373	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs6578660	chr11:5586436-5586437	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs187224961	chr11:5586437-5586438	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs10742723	chr11:5586450-5586451	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs368575831	chr11:5586480-5586481	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs529898064	chr11:5586486-5586487	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs548542749	chr11:5586510-5586511	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs559083762	chr11:5586538-5586539	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs10742725	chr11:5586545-5586546	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs113087926	chr11:5586575-5586576	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs66551862	chr11:5586576-5586577	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs71999004	chr11:5586577-5586578	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs191375392	chr11:5586593-5586594	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs552110730	chr11:5586700-5586701	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs570469694	chr11:5586733-5586734	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs561949343	chr11:5586755-5586756	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
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
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5585400-5585800	Enhancers	K562	blood
2	chr11:5585400-5586000	Enhancers	NH-A	brain
3	chr11:5585400-5586200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:5586000-5586200	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr11:5588000-5588200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:5596000-5596800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr11:5597600-5602200	Weak transcription	Aorta	Aorta

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