Variant report

Variant	nsv896969
Chromosome Location	chr11:5905344-5954809
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:305)
CpG islands
(count:732)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

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	BACH1	chr11:5949390-5949949	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr11:5949537-5949904	K562	blood:	n/a	n/a
5	BATF	chr11:5944337-5944642	GM12878	blood:	n/a	chr11:5944501-5944512
6	BATF	chr11:5944353-5944624	GM12878	blood:	n/a	chr11:5944501-5944512
7	BCL11A	chr11:5944350-5944565	GM12878	blood:	n/a	n/a
8	CEBPB	chr11:5910666-5910889	IMR90	lung:	n/a	n/a
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	chr11:5921286-5921537	IMR90	lung:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
11	CEBPB	chr11:5945178-5945285	K562	blood:	n/a	n/a
12	CEBPB	chr11:5918399-5918459	IMR90	lung:	n/a	n/a
13	CHD2	chr11:5908965-5908994	HepG2	liver:	n/a	n/a
14	CTCF	chr11:5912601-5912623	Pancreas_OC	pancreas:	n/a	n/a
15	CTCF	chr11:5911440-5911590	SAEC	small airway:	n/a	chr11:5911551-5911559 chr11:5911550-5911558
16	CTCF	chr11:5912380-5912530	HFF	foreskin:	n/a	n/a
17	CTCF	chr11:5912520-5912670	HVMF	connective:	n/a	n/a
18	CTCF	chr11:5912420-5912570	HCT-116	colon:	n/a	n/a
19	CTCF	chr11:5912527-5912699	Lung_OC	lung:	n/a	n/a
20	CTCF	chr11:5912480-5912630	HA-sp	spinal cord:	n/a	n/a
21	CTCF	chr11:5912520-5912670	HUVEC	blood vessel:	n/a	n/a
22	CTCF	chr11:5912960-5913110	HRPEpiC	eye:	n/a	n/a
23	CTCF	chr11:5912519-5912693	LNCaP	prostate:	n/a	n/a
24	CTCF	chr11:5912640-5912790	HCM	heart:	n/a	n/a
25	CTCF	chr11:5919130-5919212	Lung_OC	lung:	n/a	n/a
26	CTCF	chr11:5912860-5913010	GM12872	blood:	n/a	n/a
27	CTCF	chr11:5912540-5912690	GM06990	blood:	n/a	n/a
28	CTCF	chr11:5912500-5912650	GM12870	blood:	n/a	n/a
29	CTCF	chr11:5912520-5912670	HMEC	breast:	n/a	n/a
30	CTCF	chr11:5912538-5912688	LNCaP	prostate:	n/a	n/a
31	CTCF	chr11:5912560-5912710	HAc	cerebellar:	n/a	n/a
32	CTCF	chr11:5912540-5912715	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr11:5912540-5912690	HMF	breast:	n/a	n/a
34	CTCF	chr11:5912840-5912990	GM12865	blood:	n/a	n/a
35	CTCF	chr11:5912812-5912846	Gliobla	brain:	n/a	n/a
36	CTCF	chr11:5912560-5912710	A549	lung:	n/a	n/a
37	CTCF	chr11:5912567-5912655	HepG2	liver:	n/a	n/a
38	CTCF	chr11:5912640-5912790	GM12865	blood:	n/a	n/a
39	CTCF	chr11:5912560-5912710	GM12875	blood:	n/a	n/a
40	CTCF	chr11:5912439-5912816	K562	blood:	n/a	n/a
41	CTCF	chr11:5912926-5913005	Gliobla	brain:	n/a	n/a
42	CTCF	chr11:5912520-5912670	BE2_C	brain:	n/a	n/a
43	CTCF	chr11:5912520-5912670	HEK293	kidney:	n/a	n/a
44	CTCF	chr11:5912600-5912750	BJ	skin:	n/a	n/a
45	CTCF	chr11:5912484-5912731	HepG2	liver:	n/a	n/a
46	CTCF	chr11:5912520-5912670	AoAF	blood vessel:	n/a	n/a
47	CTCF	chr11:5913160-5913310	BJ	skin:	n/a	n/a
48	CTCF	chr11:5912479-5912724	A549	lung:	n/a	n/a
49	CTCF	chr11:5912880-5913030	AG09319	gingival:	n/a	n/a
50	CTCF	chr11:5912740-5912890	HAc	cerebellar:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5949877-5949927	PrEC	prostate:	n/a
2	chr11:5951956-5952006	HIPEpiC	eye:	n/a
3	chr11:5905350-5905400	HPAEpiC	pulmonary alveolar:	n/a
4	chr11:5951316-5951366	GM19239	blood:	n/a
5	chr11:5951833-5951883	HEK293	kidney:	embryo
6	chr11:5951316-5951366	NH-A	brain:	n/a
7	chr11:5951833-5951883	Jurkat	blood:	n/a
8	chr11:5951956-5952006	AG04450	lung:	fetal
9	chr11:5951048-5951098	ProgFib	skin:	n/a
10	chr11:5905350-5905400	H1-hESC	embryonic stem cell:	embryo
11	chr11:5905350-5905400	BJ	skin:	n/a
12	chr11:5952089-5952139	HEEpiC	esophagus:	n/a
13	chr11:5949877-5949927	NHBE	bronchial:	n/a
14	chr11:5951433-5951483	HAEpiC	amniotic membrane:	n/a
15	chr11:5951048-5951098	A549	lung:	n/a
16	chr11:5951433-5951483	ProgFib	skin:	n/a
17	chr11:5951316-5951366	HepG2	liver:	n/a
18	chr11:5951316-5951366	AG10803	skin:	n/a
19	chr11:5951048-5951098	Hela-S3	cervix:	n/a
20	chr11:5950798-5950848	HL-60	blood:	n/a
21	chr11:5949877-5949927	HUVEC	blood vessel:	n/a
22	chr11:5952089-5952139	AG04450	lung:	fetal
23	chr11:5951956-5952006	GM19239	blood:	n/a
24	chr11:5950357-5950407	ECC-1	luminal epithelium:	n/a
25	chr11:5951360-5951410	SKMC	muscle:	n/a
26	chr11:5952089-5952139	CMK	blood:	n/a
27	chr11:5950798-5950848	HRE	kidney:	n/a
28	chr11:5951048-5951098	HRE	kidney:	n/a
29	chr11:5952089-5952139	HPAEpiC	pulmonary alveolar:	n/a
30	chr11:5952089-5952139	A549	lung:	n/a
31	chr11:5951956-5952006	SK-N-SH_RA	brain:	n/a
32	chr11:5950798-5950848	HUVEC	blood vessel:	n/a
33	chr11:5905892-5905942	AG10803	skin:	n/a
34	chr11:5950357-5950407	IMR90	lung:	fetal
35	chr11:5951433-5951483	HPAEpiC	pulmonary alveolar:	n/a
36	chr11:5951433-5951483	Hela-S3	cervix:	n/a
37	chr11:5951360-5951410	PANC-1	pancreas:	n/a
38	chr11:5951316-5951366	HEEpiC	esophagus:	n/a
39	chr11:5951433-5951483	PANC-1	pancreas:	n/a
40	chr11:5951956-5952006	HL-60	blood:	n/a
41	chr11:5951833-5951883	HRCEpiC	kidney:	n/a
42	chr11:5905350-5905400	RPTEC	kidney:	n/a
43	chr11:5951048-5951098	Hepatocyte	liver:	n/a
44	chr11:5951833-5951883	PrEC	prostate:	n/a
45	chr11:5951360-5951410	AoSMC	blood vessel:	n/a
46	chr11:5951433-5951483	HCF	heart:	n/a
47	chr11:5950357-5950407	NB4	blood:	n/a
48	chr11:5905350-5905400	Jurkat	blood:	n/a
49	chr11:5949877-5949927	Jurkat	blood:	n/a
50	chr11:5950357-5950407	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:5950724..5952240-chr7:153107809..153110032,4	K562	blood:
2	chr11:5829421..5830302-chr11:5912492..5913020,2	MCF-7	breast:
3	chr11:5913304..5915785-chr11:5921263..5923337,2	K562	blood:
4	chr11:5497062..5497678-chr11:5912161..5912734,2	MCF-7	breast:
5	chr11:5952222..5953725-chr7:153106291..153108525,3	K562	blood:
6	chr11:5913304..5915785-chr11:5921263..5923337,2	K562	blood:
7	chr11:5950723..5952254-chr7:153108526..153111145,2	K562	blood:

No data

Variant related genes	Relation type
OR52E4	TF binding region
OR52E4	CpG island
ENSG00000234722	chromatin interactions

Extended variants
information (count: 516 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:516 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114184461	chr11:5905351-5905352	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs371692932	chr11:5905364-5905365	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs539336728	chr11:5905374-5905375	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs535019277	chr11:5920621-5920622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541272697	chr11:5920633-5920634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138587785	chr11:5920643-5920644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189477472	chr11:5920647-5920648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11039508	chr11:5920697-5920698	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568536676	chr11:5920699-5920700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10838795	chr11:5920721-5920722	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs145172234	chr11:5920722-5920723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550820444	chr11:5920749-5920750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35611233	chr11:5920771-5920772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569221935	chr11:5920791-5920792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539615723	chr11:5920795-5920796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116458530	chr11:5920807-5920808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550088266	chr11:5920814-5920815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573391907	chr11:5920824-5920825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534289484	chr11:5920827-5920828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375749699	chr11:5920841-5920842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555625808	chr11:5920850-5920851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs16937143	chr11:5920926-5920927	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs192978609	chr11:5920971-5920972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10838797	chr11:5920977-5920978	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs16937145	chr11:5920987-5920988	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs117670233	chr11:5921046-5921047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149309015	chr11:5921079-5921080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527542450	chr11:5921103-5921104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117228768	chr11:5921144-5921145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560657034	chr11:5921195-5921196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144472503	chr11:5921196-5921197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549385171	chr11:5921231-5921232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551829373	chr11:5921232-5921233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375207584	chr11:5921233-5921234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs117992866	chr11:5921239-5921240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371025108	chr11:5921281-5921282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533661720	chr11:5921316-5921317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565647825	chr11:5921337-5921338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183746198	chr11:5921339-5921340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567050173	chr11:5921346-5921347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534131129	chr11:5921356-5921357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555865161	chr11:5921362-5921363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138012940	chr11:5921363-5921364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538371116	chr11:5921370-5921371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73398289	chr11:5921396-5921397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12795021	chr11:5924824-5924825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182546014	chr11:5924876-5924877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369553466	chr11:5924946-5924947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185142963	chr11:5924960-5924961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577983169	chr11:5924966-5924967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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:17 , 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
15	chr11:5950800-5951600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:5952000-5953000	ZNF genes & repeats	Pancreas	Pancrea
17	chr11:5952800-5959000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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