Variant report

Variant	nsv1042308
Chromosome Location	chr11:5504861-5520062
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:117)
CpG islands
(count:185)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:117 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:5517206-5517420	K562	blood:	n/a	n/a
2	BACH1	chr11:5512585-5512618	K562	blood:	n/a	n/a
3	CCNT2	chr11:5517161-5517732	K562	blood:	n/a	n/a
4	CEBPB	chr11:5517605-5517615	K562	blood:	n/a	n/a
5	CHD2	chr11:5506759-5506897	K562	blood:	n/a	n/a
6	CHD2	chr11:5508921-5509123	K562	blood:	n/a	n/a
7	CHD2	chr11:5510043-5510814	K562	blood:	n/a	n/a
8	E2F4	chr11:5508771-5508940	MCF10A-Er-Src	breast:	n/a	n/a
9	EBF1	chr11:5504852-5505132	GM12878	blood:	n/a	n/a
10	EP300	chr11:5516257-5516290	K562	blood:	n/a	n/a
11	FOS	chr11:5510781-5511174	HUVEC	blood vessel:	n/a	n/a
12	GATA3	chr11:5514290-5514432	SH-SY5Y	brain:	n/a	n/a
13	IRF1	chr11:5517912-5517946	K562	blood:	n/a	n/a
14	KAP1	chr11:5509720-5509849	K562	blood:	n/a	n/a
15	MAFK	chr11:5505362-5505395	HepG2	liver:	n/a	chr11:5505379-5505394 chr11:5505374-5505394 chr11:5505384-5505395 chr11:5505383-5505394 chr11:5505384-5505395
16	MAX	chr11:5517800-5517974	H1-hESC	embryonic stem cell:	n/a	n/a
17	NR2F2	chr11:5520031-5520472	K562	blood:	n/a	n/a
18	PML	chr11:5506569-5507298	K562	blood:	n/a	n/a
19	POLR2A	chr11:5518882-5521306	K562	blood:	n/a	n/a
20	POLR2A	chr11:5506532-5508116	K562	blood:	n/a	n/a
21	POLR2A	chr11:5517044-5518319	K562	blood:	n/a	n/a
22	POLR2A	chr11:5515092-5515417	K562	blood:	n/a	n/a
23	POLR2A	chr11:5510180-5510191	A549	lung:	n/a	n/a
24	POLR2A	chr11:5511571-5514686	K562	blood:	n/a	n/a
25	POLR2A	chr11:5508571-5509183	K562	blood:	n/a	n/a
26	POLR2A	chr11:5504830-5505808	K562	blood:	n/a	n/a
27	POLR2A	chr11:5517634-5517914	HCT-116	colon:	n/a	n/a
28	POLR2A	chr11:5515998-5516795	K562	blood:	n/a	n/a
29	POLR2A	chr11:5509254-5509454	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr11:5515364-5515370	K562	blood:	n/a	n/a
31	POLR2A	chr11:5510463-5510577	A549	lung:	n/a	n/a
32	POLR2A	chr11:5511727-5512313	K562	blood:	n/a	n/a
33	POLR2A	chr11:5510895-5511182	K562	blood:	n/a	n/a
34	POLR2A	chr11:5508972-5509072	K562	blood:	n/a	n/a
35	POLR2A	chr11:5509718-5515976	K562	blood:	n/a	n/a
36	POLR2A	chr11:5505163-5505345	K562	blood:	n/a	n/a
37	POLR2A	chr11:5516971-5518275	K562	blood:	n/a	n/a
38	POLR2A	chr11:5505555-5505556	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr11:5508617-5509537	K562	blood:	n/a	n/a
40	POLR2A	chr11:5512042-5512044	K562	blood:	n/a	n/a
41	POLR2A	chr11:5505011-5505500	K562	blood:	n/a	n/a
42	POLR2A	chr11:5507054-5507466	K562	blood:	n/a	n/a
43	POLR2A	chr11:5513687-5514801	K562	blood:	n/a	n/a
44	POLR2A	chr11:5512012-5512031	K562	blood:	n/a	n/a
45	POLR2A	chr11:5508334-5508347	K562	blood:	n/a	n/a
46	POLR2A	chr11:5506430-5508425	K562	blood:	n/a	n/a
47	POLR2A	chr11:5519306-5519655	HCT-116	colon:	n/a	n/a
48	POLR2A	chr11:5505829-5508468	K562	blood:	n/a	n/a
49	POLR2A	chr11:5512797-5512804	K562	blood:	n/a	n/a
50	POLR2A	chr11:5516164-5522888	K562	blood:	n/a	n/a

(count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5508789-5508839	ECC-1	luminal epithelium:	n/a
2	chr11:5510396-5510446	LNCaP	prostate:	n/a
3	chr11:5508789-5508839	ECC-1	luminal epithelium:	n/a
4	chr11:5510396-5510446	LNCaP	prostate:	n/a
5	chr11:5508789-5508839	GM06990	blood:	n/a
6	chr11:5510396-5510446	ovcar-3	ovarian:	n/a
7	chr11:5510732-5510782	HIPEpiC	eye:	n/a
8	chr11:5508789-5508839	SK-N-SH_RA	brain:	n/a
9	chr11:5508789-5508839	HUVEC	blood vessel:	n/a
10	chr11:5510732-5510782	ProgFib	skin:	n/a
11	chr11:5510396-5510446	AG10803	skin:	n/a
12	chr11:5510732-5510782	CMK	blood:	n/a
13	chr11:5510732-5510782	RPTEC	kidney:	n/a
14	chr11:5510396-5510446	PANC-1	pancreas:	n/a
15	chr11:5510396-5510446	HUVEC	blood vessel:	n/a
16	chr11:5510732-5510782	SKMC	muscle:	n/a
17	chr11:5508789-5508839	GM12892	blood:	n/a
18	chr11:5510732-5510782	GM12892	blood:	n/a
19	chr11:5508789-5508839	AG04449	skin:	fetal
20	chr11:5510396-5510446	CMK	blood:	n/a
21	chr11:5510396-5510446	HepG2	liver:	n/a
22	chr11:5510396-5510446	ECC-1	luminal epithelium:	n/a
23	chr11:5510396-5510446	T-47D	breast:	n/a
24	chr11:5510396-5510446	SAEC	small airway:	n/a
25	chr11:5510732-5510782	HMEC	breast:	n/a
26	chr11:5508789-5508839	SKMC	muscle:	n/a
27	chr11:5510732-5510782	HCM	heart:	n/a
28	chr11:5508789-5508839	RPTEC	kidney:	n/a
29	chr11:5510396-5510446	NHDF-neo	bronchial:	n/a
30	chr11:5510732-5510782	IMR90	lung:	fetal
31	chr11:5510732-5510782	HRE	kidney:	n/a
32	chr11:5508789-5508839	NHBE	bronchial:	n/a
33	chr11:5510732-5510782	MCF-7	breast:	n/a
34	chr11:5508789-5508839	HCT-116	colon:	n/a
35	chr11:5508789-5508839	Hela-S3	cervix:	n/a
36	chr11:5508789-5508839	ProgFib	skin:	n/a
37	chr11:5510732-5510782	BJ	skin:	n/a
38	chr11:5510396-5510446	BE2_C	brain:	n/a
39	chr11:5508789-5508839	A549	lung:	n/a
40	chr11:5510732-5510782	LNCaP	prostate:	n/a
41	chr11:5510732-5510782	SK-N-SH_RA	brain:	n/a
42	chr11:5508789-5508839	LNCaP	prostate:	n/a
43	chr11:5508789-5508839	MCF-7	breast:	n/a
44	chr11:5510732-5510782	GM12878	blood:	n/a
45	chr11:5510732-5510782	GM06990	blood:	n/a
46	chr11:5510396-5510446	HL-60	blood:	n/a
47	chr11:5508789-5508839	AG09319	gingival:	n/a
48	chr11:5508789-5508839	ovcar-3	ovarian:	n/a
49	chr11:5510396-5510446	HNPCEpiC	eye:	n/a
50	chr11:5508789-5508839	GM19239	blood:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5490227..5492480-chr11:5518337..5520936,2	K562	blood:
2	chr11:5519637..5522441-chr11:5543101..5545017,2	K562	blood:
3	11:4988858-5002113..11:5505728-5514500	Hela-S3	cervix:
4	chr11:5492399..5493944-chr11:5512243..5514587,2	K562	blood:
5	11:5502379-5505643..11:5527719-5533869	H1-hESC	embryonic stem cell:	embryo
6	chr11:5518374..5520902-chr11:5549789..5551416,2	K562	blood:
7	chr11:5513576..5516528-chr11:5519763..5521630,2	MCF-7	breast:
8	chr11:5513576..5516528-chr11:5519763..5521630,2	MCF-7	breast:
9	chr11:5519079..5520921-chr11:5539054..5541793,2	K562	blood:
10	chr11:5169508..5172348-chr11:5506409..5508300,2	K562	blood:
11	11:5502379-5505643..11:5721056-5732713	GM12878	blood:

No data

Variant related genes	Relation type
OR52D1	TF binding region
OR52D1	CpG island
ENSG00000175520	chromatin interactions
ENSG00000132274	chromatin interactions
ENSG00000230484	chromatin interactions
ENSG00000225003	chromatin interactions

Extended variants
information (count: 726 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:726 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2340353	chr11:5504861-5504862	Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs143126081	chr11:5504912-5504913	Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs200719530	chr11:5504919-5504920	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs540304151	chr11:5504931-5504932	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs143967098	chr11:5504981-5504982	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs189068244	chr11:5505000-5505001	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs76003678	chr11:5505007-5505008	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs554235853	chr11:5505055-5505056	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs192853299	chr11:5505060-5505061	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs183743185	chr11:5505116-5505117	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs376313874	chr11:5505132-5505133	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs12283559	chr11:5505149-5505150	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs545031067	chr11:5505208-5505209	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs577770217	chr11:5505210-5505211	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs187111457	chr11:5505232-5505233	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs543184892	chr11:5505239-5505240	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs374081022	chr11:5505268-5505269	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs562664291	chr11:5505271-5505272	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs549064166	chr11:5505302-5505303	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs567338061	chr11:5505365-5505366	Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs191866247	chr11:5505404-5505405	ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs551148781	chr11:5505411-5505412	ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs16931569	chr11:5505445-5505446	ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs183762635	chr11:5505525-5505526	ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs557755198	chr11:5505556-5505557	ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs530089349	chr11:5505592-5505593	ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs539565590	chr11:5505607-5505608	Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs533918546	chr11:5505692-5505693	Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs77094111	chr11:5505721-5505722	Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs199632460	chr11:5505744-5505745	Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs200716101	chr11:5505747-5505748	Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs560590992	chr11:5505761-5505762	Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs11037733	chr11:5505764-5505765	Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs537685646	chr11:5505799-5505800	Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs545032955	chr11:5505811-5505812	Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs188433392	chr11:5505823-5505824	Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs371614155	chr11:5505830-5505831	Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs192723134	chr11:5505833-5505834	Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs74422784	chr11:5505867-5505868	Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs114559280	chr11:5505879-5505880	Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs564824963	chr11:5505914-5505915	Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs142069488	chr11:5505915-5505916	Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs147735092	chr11:5505941-5505942	Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs560864202	chr11:5505960-5505961	Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs142644013	chr11:5505968-5505969	Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs562610005	chr11:5505973-5505974	Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs372849697	chr11:5505979-5505980	Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs144974471	chr11:5506014-5506015	Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs10500643	chr11:5506034-5506035	Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs556594305	chr11:5506035-5506036	Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5504800-5505400	Genic enhancers	K562	blood
2	chr11:5505400-5505600	ZNF genes & repeats	K562	blood
3	chr11:5505600-5506600	Strong transcription	K562	blood
4	chr11:5506600-5510800	Genic enhancers	K562	blood
5	chr11:5506800-5508000	Enhancers	Primary hematopoietic stem cells	blood
6	chr11:5506800-5508000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:5507000-5507600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:5510800-5512600	Strong transcription	K562	blood
9	chr11:5511200-5512400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:5512600-5516000	Genic enhancers	K562	blood
11	chr11:5516000-5517000	Strong transcription	K562	blood
12	chr11:5517000-5517200	Active TSS	Primary hematopoietic stem cells	blood
13	chr11:5517000-5519000	Genic enhancers	K562	blood
14	chr11:5517200-5517400	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr11:5517200-5517600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:5519000-5519600	Transcr. at gene 5' and 3'	K562	blood
17	chr11:5519600-5520200	Genic enhancers	K562	blood

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