Variant report

Variant	nsv1046910
Chromosome Location	chr11:5866224-5883305
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:244)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:5867958-5868232	K562	blood:	n/a	n/a
2	CEBPB	chr11:5872262-5872604	IMR90	lung:	n/a	n/a
3	CEBPB	chr11:5872260-5872623	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr11:5872256-5872635	K562	blood:	n/a	n/a
5	CEBPB	chr11:5872283-5872577	A549	lung:	n/a	n/a
6	CEBPB	chr11:5872999-5873041	K562	blood:	n/a	n/a
7	CEBPB	chr11:5872324-5872546	K562	blood:	n/a	n/a
8	CEBPB	chr11:5872237-5872619	K562	blood:	n/a	n/a
9	CEBPB	chr11:5872276-5872519	HepG2	liver:	n/a	n/a
10	CTCF	chr11:5881260-5881410	K562	blood:	n/a	n/a
11	CUX1	chr11:5868005-5868222	K562	blood:	n/a	n/a
12	FOS	chr11:5866203-5866313	MCF10A-Er-Src	breast:	n/a	chr11:5866270-5866279
13	GATA2	chr11:5867938-5868231	K562	blood:	n/a	n/a
14	GATA3	chr11:5866686-5866880	SH-SY5Y	brain:	n/a	chr11:5866736-5866746
15	NFYA	chr11:5871139-5871260	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:5869992-5870192	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr11:5874795-5874859	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:5881104-5881191	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr11:5869476-5869551	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr11:5875602-5875721	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr11:5882397-5882439	MCF10A-Er-Src	breast:	n/a	n/a
22	RCOR1	chr11:5870763-5870771	GM12878	blood:	n/a	n/a
23	SPI1	chr11:5875635-5875791	K562	blood:	n/a	n/a
24	SPI1	chr11:5875526-5875870	HL-60	blood:	n/a	n/a
25	SPI1	chr11:5875598-5875807	GM12891	blood:	n/a	n/a
26	SPI1	chr11:5875626-5875733	GM12878	blood:	n/a	n/a
27	STAT5A	chr11:5867854-5868317	K562	blood:	n/a	n/a
28	TAL1	chr11:5872417-5872457	K562	blood:	n/a	n/a
29	TAL1	chr11:5881484-5881548	K562	blood:	n/a	n/a
30	TAL1	chr11:5867928-5868278	K562	blood:	n/a	chr11:5867978-5867993
31	TCF7L2	chr11:5875863-5876193	HepG2	liver:	n/a	n/a
32	TEAD4	chr11:5867811-5868342	K562	blood:	n/a	chr11:5868142-5868151
33	TEAD4	chr11:5867972-5868271	K562	blood:	n/a	chr11:5868142-5868151
34	USF2	chr11:5882286-5882289	K562	blood:	n/a	n/a
35	ZNF384	chr11:5869084-5869257	K562	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5878955-5879005	NB4	blood:	n/a
2	chr11:5878958-5879008	AG04450	lung:	fetal
3	chr11:5878955-5879005	GM19239	blood:	n/a
4	chr11:5878019-5878069	SK-N-MC	brain:	n/a
5	chr11:5878958-5879008	PFSK-1	brain:	n/a
6	chr11:5879799-5879849	GM12892	blood:	n/a
7	chr11:5878955-5879005	MCF-7	breast:	n/a
8	chr11:5879799-5879849	HEK293	kidney:	embryo
9	chr11:5878955-5879005	ProgFib	skin:	n/a
10	chr11:5878955-5879005	HIPEpiC	eye:	n/a
11	chr11:5878958-5879008	SK-N-SH	brain:	n/a
12	chr11:5878955-5879005	LNCaP	prostate:	n/a
13	chr11:5878019-5878069	HAEpiC	amniotic membrane:	n/a
14	chr11:5879799-5879849	HEEpiC	esophagus:	n/a
15	chr11:5878958-5879008	GM12892	blood:	n/a
16	chr11:5879799-5879849	NHBE	bronchial:	n/a
17	chr11:5879799-5879849	BE2_C	brain:	n/a
18	chr11:5879799-5879849	AG04449	skin:	fetal
19	chr11:5878019-5878069	CMK	blood:	n/a
20	chr11:5879799-5879849	ovcar-3	ovarian:	n/a
21	chr11:5879799-5879849	PANC-1	pancreas:	n/a
22	chr11:5878958-5879008	BJ	skin:	n/a
23	chr11:5878955-5879005	PANC-1	pancreas:	n/a
24	chr11:5879799-5879849	CMK	blood:	n/a
25	chr11:5878958-5879008	SKMC	muscle:	n/a
26	chr11:5878019-5878069	HIPEpiC	eye:	n/a
27	chr11:5878958-5879008	HEEpiC	esophagus:	n/a
28	chr11:5878019-5878069	RPTEC	kidney:	n/a
29	chr11:5878019-5878069	HNPCEpiC	eye:	n/a
30	chr11:5878019-5878069	SKMC	muscle:	n/a
31	chr11:5878958-5879008	ECC-1	luminal epithelium:	n/a
32	chr11:5878958-5879008	NT2-D1	testis:	n/a
33	chr11:5878019-5878069	HCT-116	colon:	n/a
34	chr11:5879799-5879849	SK-N-MC	brain:	n/a
35	chr11:5878955-5879005	GM12892	blood:	n/a
36	chr11:5878019-5878069	H1-hESC	embryonic stem cell:	embryo
37	chr11:5878955-5879005	U87	brain:	n/a
38	chr11:5878019-5878069	NH-A	brain:	n/a
39	chr11:5878958-5879008	Hela-S3	cervix:	n/a
40	chr11:5878955-5879005	HPAEpiC	pulmonary alveolar:	n/a
41	chr11:5878019-5878069	HRPEpiC	eye:	n/a
42	chr11:5878958-5879008	BE2_C	brain:	n/a
43	chr11:5878019-5878069	ECC-1	luminal epithelium:	n/a
44	chr11:5879799-5879849	HRCEpiC	kidney:	n/a
45	chr11:5879799-5879849	AG04450	lung:	fetal
46	chr11:5878019-5878069	IMR90	lung:	fetal
47	chr11:5878955-5879005	AoSMC	blood vessel:	n/a
48	chr11:5878955-5879005	AG10803	skin:	n/a
49	chr11:5878955-5879005	HCPEpiC	choroid plexus:	n/a
50	chr11:5879799-5879849	PFSK-1	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5877485..5879588-chr11:5881678..5883680,2	K562	blood:
2	chr11:5624501..5627132-chr11:5864110..5866579,2	K562	blood:

No data

Variant related genes	Relation type
OR52E6	TF binding region
OR52E8	TF binding region
OR52E6	CpG island
OR52E8	CpG island
ENSG00000121236	chromatin interactions
ENSG00000183269	chromatin interactions

Extended variants
information (count: 233 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:233 , 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	rs10742812	chr11:5866224-5866225	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543872100	chr11:5866259-5866260	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs117372258	chr11:5866260-5866261	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs77292949	chr11:5866303-5866304	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs7944871	chr11:5866333-5866334	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs116079946	chr11:5866349-5866350	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs148577285	chr11:5866358-5866359	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs529870535	chr11:5866369-5866370	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs191112014	chr11:5866386-5866387	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs562228301	chr11:5866404-5866405	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542688251	chr11:5866409-5866410	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs142967803	chr11:5866419-5866420	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs183424075	chr11:5866427-5866428	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs370324424	chr11:5866431-5866432	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs569261358	chr11:5866443-5866444	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs372293497	chr11:5866467-5866468	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs551482564	chr11:5866475-5866476	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs111617862	chr11:5866493-5866494	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs533822675	chr11:5866494-5866495	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs555259839	chr11:5866514-5866515	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs567097650	chr11:5866565-5866566	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs574563462	chr11:5866710-5866711	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs7944507	chr11:5866730-5866731	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs536876030	chr11:5866739-5866740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs563145086	chr11:5866791-5866792	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs7934615	chr11:5866792-5866793	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs140127882	chr11:5866829-5866830	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs143841610	chr11:5866854-5866855	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs16936199	chr11:5866857-5866858	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs548821185	chr11:5866859-5866860	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs4387380	chr11:5867447-5867448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538113267	chr11:5867478-5867479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7948209	chr11:5867482-5867483	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs554008996	chr11:5867488-5867489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527719036	chr11:5867581-5867582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4388914	chr11:5867588-5867589	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs545595792	chr11:5867594-5867595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553976159	chr11:5867614-5867615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1869376	chr11:5867626-5867627	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs148638847	chr11:5867631-5867632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558678539	chr11:5867640-5867641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542755924	chr11:5867654-5867655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536736775	chr11:5867674-5867675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560908592	chr11:5867681-5867682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35946723	chr11:5867683-5867684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4578420	chr11:5867685-5867686	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs531735420	chr11:5867693-5867694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192603622	chr11:5867694-5867695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565202002	chr11:5867733-5867734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570187143	chr11:5867739-5867740	Enhancers	n/a	n/a	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
Pancreatic cancer	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Type 2 diabetes	21526130	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5867400-5869000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr11:5867800-5868400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:5867800-5868400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:5868400-5869000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:5869000-5869200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:5869000-5869800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:5869800-5870000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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