Variant report

Variant	nsv896960
Chromosome Location	chr11:5877909-5948209
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:299)
CpG islands
(count:367)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:299 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:5912394-5912741	K562	blood:	n/a	n/a
2	ARID3A	chr11:5912497-5912707	HepG2	liver:	n/a	n/a
3	ATF1	chr11:5893901-5893919	K562	blood:	n/a	n/a
4	BATF	chr11:5944353-5944624	GM12878	blood:	n/a	chr11:5944501-5944512
5	BATF	chr11:5944337-5944642	GM12878	blood:	n/a	chr11:5944501-5944512
6	BCL11A	chr11:5944350-5944565	GM12878	blood:	n/a	n/a
7	CEBPB	chr11:5945178-5945285	K562	blood:	n/a	n/a
8	CEBPB	chr11:5921286-5921537	IMR90	lung:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
9	CEBPB	chr11:5921253-5921539	HepG2	liver:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
10	CEBPB	chr11:5918399-5918459	IMR90	lung:	n/a	n/a
11	CEBPB	chr11:5910666-5910889	IMR90	lung:	n/a	n/a
12	CHD2	chr11:5908965-5908994	HepG2	liver:	n/a	n/a
13	CTCF	chr11:5912620-5912770	GM12874	blood:	n/a	n/a
14	CTCF	chr11:5912500-5912650	GM12867	blood:	n/a	n/a
15	CTCF	chr11:5912620-5912770	RPTEC	kidney:	n/a	n/a
16	CTCF	chr11:5912812-5912846	Gliobla	brain:	n/a	n/a
17	CTCF	chr11:5912469-5912763	K562	blood:	n/a	n/a
18	CTCF	chr11:5912520-5912670	AoAF	blood vessel:	n/a	n/a
19	CTCF	chr11:5912860-5913010	GM12864	blood:	n/a	n/a
20	CTCF	chr11:5912519-5912693	LNCaP	prostate:	n/a	n/a
21	CTCF	chr11:5912760-5912910	GM12873	blood:	n/a	n/a
22	CTCF	chr11:5912812-5912822	GM19240	blood:	n/a	n/a
23	CTCF	chr11:5912580-5912730	GM06990	blood:	n/a	n/a
24	CTCF	chr11:5912560-5912710	AG04450	lung:	n/a	n/a
25	CTCF	chr11:5912520-5912670	GM12868	blood:	n/a	n/a
26	CTCF	chr11:5912926-5913005	Gliobla	brain:	n/a	n/a
27	CTCF	chr11:5912521-5912725	Spleen_OC	spleen:	n/a	n/a
28	CTCF	chr11:5912540-5912690	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr11:5912640-5912790	HCM	heart:	n/a	n/a
30	CTCF	chr11:5912500-5912650	HFF-Myc	foreskin:	n/a	n/a
31	CTCF	chr11:5912600-5912750	NHDF-neo	bronchial:	n/a	n/a
32	CTCF	chr11:5912540-5912690	AG09309	skin:	n/a	n/a
33	CTCF	chr11:5912580-5912730	HMF	breast:	n/a	n/a
34	CTCF	chr11:5912640-5912790	HCT-116	colon:	n/a	n/a
35	CTCF	chr11:5912873-5912903	Gliobla	brain:	n/a	n/a
36	CTCF	chr11:5912580-5912730	GM12878	blood:	n/a	n/a
37	CTCF	chr11:5912740-5912890	HA-sp	spinal cord:	n/a	n/a
38	CTCF	chr11:5912500-5912650	HL-60	blood:	n/a	n/a
39	CTCF	chr11:5912580-5912730	HPF	lung:	n/a	n/a
40	CTCF	chr11:5912520-5912670	HMEC	breast:	n/a	n/a
41	CTCF	chr11:5912840-5912990	GM12867	blood:	n/a	n/a
42	CTCF	chr11:5911866-5913034	A549	lung:	n/a	n/a
43	CTCF	chr11:5912520-5912670	HEK293	kidney:	n/a	n/a
44	CTCF	chr11:5912520-5912670	AG10803	skin:	n/a	n/a
45	CTCF	chr11:5912540-5912690	HepG2	liver:	n/a	n/a
46	CTCF	chr11:5912540-5912690	K562	blood:	n/a	n/a
47	CTCF	chr11:5912760-5912910	GM12865	blood:	n/a	n/a
48	CTCF	chr11:5912560-5912710	A549	lung:	n/a	n/a
49	CTCF	chr11:5912484-5912731	HepG2	liver:	n/a	n/a
50	CTCF	chr11:5912580-5912730	HEEpiC	esophagus:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5905892-5905942	HPAEpiC	pulmonary alveolar:	n/a
2	chr11:5905892-5905942	HPAEpiC	pulmonary alveolar:	n/a
3	chr11:5878955-5879005	HRPEpiC	eye:	n/a
4	chr11:5905892-5905942	GM12892	blood:	n/a
5	chr11:5905350-5905400	HCPEpiC	choroid plexus:	n/a
6	chr11:5878958-5879008	HCPEpiC	choroid plexus:	n/a
7	chr11:5905350-5905400	ovcar-3	ovarian:	n/a
8	chr11:5905892-5905942	HCPEpiC	choroid plexus:	n/a
9	chr11:5878958-5879008	GM19239	blood:	n/a
10	chr11:5878955-5879005	ovcar-3	ovarian:	n/a
11	chr11:5878958-5879008	Jurkat	blood:	n/a
12	chr11:5878019-5878069	HRE	kidney:	n/a
13	chr11:5878958-5879008	PFSK-1	brain:	n/a
14	chr11:5878955-5879005	ProgFib	skin:	n/a
15	chr11:5878019-5878069	ECC-1	luminal epithelium:	n/a
16	chr11:5879799-5879849	HRCEpiC	kidney:	n/a
17	chr11:5878019-5878069	Hepatocyte	liver:	n/a
18	chr11:5905350-5905400	PFSK-1	brain:	n/a
19	chr11:5905892-5905942	Caco-2	colon:	n/a
20	chr11:5878955-5879005	RPTEC	kidney:	n/a
21	chr11:5878955-5879005	U87	brain:	n/a
22	chr11:5905892-5905942	AoSMC	blood vessel:	n/a
23	chr11:5878958-5879008	AG04450	lung:	fetal
24	chr11:5905892-5905942	HMEC	breast:	n/a
25	chr11:5905892-5905942	AG04450	lung:	fetal
26	chr11:5905892-5905942	K562	blood:	n/a
27	chr11:5878958-5879008	HRE	kidney:	n/a
28	chr11:5878958-5879008	T-47D	breast:	n/a
29	chr11:5878958-5879008	HCT-116	colon:	n/a
30	chr11:5905892-5905942	SKMC	muscle:	n/a
31	chr11:5878958-5879008	SK-N-SH_RA	brain:	n/a
32	chr11:5878958-5879008	K562	blood:	n/a
33	chr11:5905892-5905942	HIPEpiC	eye:	n/a
34	chr11:5878019-5878069	T-47D	breast:	n/a
35	chr11:5878019-5878069	GM12891	blood:	n/a
36	chr11:5905350-5905400	AG04449	skin:	fetal
37	chr11:5905892-5905942	HL-60	blood:	n/a
38	chr11:5878958-5879008	NT2-D1	testis:	n/a
39	chr11:5878958-5879008	H1-hESC	embryonic stem cell:	embryo
40	chr11:5878019-5878069	U87	brain:	n/a
41	chr11:5878019-5878069	PrEC	prostate:	n/a
42	chr11:5878955-5879005	HPAEpiC	pulmonary alveolar:	n/a
43	chr11:5879799-5879849	SK-N-SH_RA	brain:	n/a
44	chr11:5878958-5879008	HCF	heart:	n/a
45	chr11:5879799-5879849	NT2-D1	testis:	n/a
46	chr11:5905892-5905942	GM19239	blood:	n/a
47	chr11:5878958-5879008	LNCaP	prostate:	n/a
48	chr11:5905350-5905400	GM19239	blood:	n/a
49	chr11:5878955-5879005	HAEpiC	amniotic membrane:	n/a
50	chr11:5879799-5879849	HRPEpiC	eye:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:5884568..5886582-chr11:5891480..5894269,2	K562	blood:
2	chr11:5913304..5915785-chr11:5921263..5923337,2	K562	blood:
3	chr11:5877485..5879588-chr11:5881678..5883680,2	K562	blood:
4	chr11:5497062..5497678-chr11:5912161..5912734,2	MCF-7	breast:
5	chr11:5829421..5830302-chr11:5912492..5913020,2	MCF-7	breast:
6	chr11:5892127..5895108-chr11:5895655..5898478,2	K562	blood:
7	chr11:5887307..5889466-chr11:5893246..5895827,2	K562	blood:
8	chr11:5913304..5915785-chr11:5921263..5923337,2	K562	blood:

No data

Variant related genes	Relation type
OR52E4	TF binding region
TRIM5	TF binding region
OR52E8	TF binding region
OR52E7P	TF binding region
OR52E4	CpG island
TRIM5	CpG island
OR52E8	CpG island
OR52E7P	CpG island
ENSG00000183269	chromatin interactions
ENSG00000233563	chromatin interactions
ENSG00000132256	chromatin interactions

Extended variants
information (count: 750 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:750 , 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	rs367652594	chr11:5878967-5878968	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs184876955	chr11:5879847-5879848	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs143130530	chr11:5881135-5881136	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs560802421	chr11:5881142-5881143	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs553663294	chr11:5881159-5881160	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs574378948	chr11:5881165-5881166	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs542692107	chr11:5881185-5881186	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs180889082	chr11:5881285-5881286	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs577428428	chr11:5881403-5881404	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs562458582	chr11:5881487-5881488	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs548832072	chr11:5881497-5881498	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs563747840	chr11:5881502-5881503	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs10642411	chr11:5881520-5881521	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs35641836	chr11:5881521-5881522	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs397736292	chr11:5881523-5881524	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs199970186	chr11:5881524-5881525	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs531315733	chr11:5881531-5881532	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs112672741	chr11:5881548-5881549	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs6578696	chr11:5881694-5881695	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs10838742	chr11:5881696-5881697	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs10642412	chr11:5881710-5881711	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs10656894	chr11:5881711-5881712	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375590014	chr11:5881712-5881713	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs66963805	chr11:5881738-5881739	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs11389074	chr11:5881755-5881756	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs547171717	chr11:5881808-5881809	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs10838743	chr11:5881842-5881843	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs556784527	chr11:5881890-5881891	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs9300061	chr11:5881900-5881901	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs538102908	chr11:5881903-5881904	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs568602170	chr11:5881915-5881916	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs112003604	chr11:5881944-5881945	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs34727979	chr11:5882003-5882004	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs369910954	chr11:5882022-5882023	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs577826626	chr11:5882058-5882059	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs34298416	chr11:5882115-5882116	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs541325933	chr11:5882119-5882120	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs10569052	chr11:5882122-5882123	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs199818804	chr11:5882123-5882124	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs553613247	chr11:5882124-5882125	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs575235861	chr11:5882128-5882129	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs542436280	chr11:5882148-5882149	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs182925179	chr11:5882162-5882163	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs530985335	chr11:5882167-5882168	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs141706765	chr11:5882168-5882169	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs564294260	chr11:5882215-5882216	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs10838744	chr11:5882235-5882236	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs116689931	chr11:5882270-5882271	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs571984241	chr11:5882286-5882287	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs7104578	chr11:5882294-5882295	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5920600-5921200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr11:5920800-5921200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr11:5920800-5921200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:5920800-5921200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:5920800-5921400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:5924800-5927600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:5927600-5927800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:5944000-5944600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:5944000-5944600	Enhancers	A549	lung
10	chr11:5944000-5944800	Enhancers	GM12878-XiMat	blood
11	chr11:5944000-5945000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:5944000-5945200	Enhancers	NHEK	skin
13	chr11:5944000-5945400	Enhancers	HMEC	breast
14	chr11:5944200-5945000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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