Variant report

Variant	esv1843067
Chromosome Location	chr11:5855510-5925140
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:295)
CpG islands
(count:427)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:295 , 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	chr11:5912497-5912707	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:5912394-5912741	K562	blood:	n/a	n/a
3	ATF1	chr11:5867958-5868232	K562	blood:	n/a	n/a
4	ATF1	chr11:5893901-5893919	K562	blood:	n/a	n/a
5	CEBPB	chr11:5921253-5921539	HepG2	liver:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
6	CEBPB	chr11:5921286-5921537	IMR90	lung:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
7	CEBPB	chr11:5872276-5872519	HepG2	liver:	n/a	n/a
8	CEBPB	chr11:5872999-5873041	K562	blood:	n/a	n/a
9	CEBPB	chr11:5918399-5918459	IMR90	lung:	n/a	n/a
10	CEBPB	chr11:5872237-5872619	K562	blood:	n/a	n/a
11	CEBPB	chr11:5860791-5861085	HepG2	liver:	n/a	chr11:5860903-5860914 chr11:5861009-5861022
12	CEBPB	chr11:5910666-5910889	IMR90	lung:	n/a	n/a
13	CEBPB	chr11:5872256-5872635	K562	blood:	n/a	n/a
14	CEBPB	chr11:5872324-5872546	K562	blood:	n/a	n/a
15	CEBPB	chr11:5872260-5872623	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr11:5872262-5872604	IMR90	lung:	n/a	n/a
17	CEBPB	chr11:5872283-5872577	A549	lung:	n/a	n/a
18	CHD2	chr11:5908965-5908994	HepG2	liver:	n/a	n/a
19	CTCF	chr11:5912580-5912730	BJ	skin:	n/a	n/a
20	CTCF	chr11:5912760-5912910	GM12865	blood:	n/a	n/a
21	CTCF	chr11:5912479-5912724	A549	lung:	n/a	n/a
22	CTCF	chr11:5912335-5912898	HCT-116	colon:	n/a	n/a
23	CTCF	chr11:5912540-5912690	AG09319	gingival:	n/a	n/a
24	CTCF	chr11:5912484-5912731	HepG2	liver:	n/a	n/a
25	CTCF	chr11:5912320-5912470	GM12865	blood:	n/a	n/a
26	CTCF	chr11:5912820-5912970	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr11:5912500-5912650	AG04449	skin:	n/a	n/a
28	CTCF	chr11:5912600-5912750	GM12872	blood:	n/a	n/a
29	CTCF	chr11:5912915-5913006	GM13977	blood:	n/a	n/a
30	CTCF	chr11:5912880-5913030	GM12878	blood:	n/a	n/a
31	CTCF	chr11:5912829-5912848	GM12892	blood:	n/a	n/a
32	CTCF	chr11:5912540-5912690	HCFaa	heart:	n/a	n/a
33	CTCF	chr11:5912560-5912710	GM12875	blood:	n/a	n/a
34	CTCF	chr11:5912600-5912750	BJ	skin:	n/a	n/a
35	CTCF	chr11:5912500-5912650	GM12867	blood:	n/a	n/a
36	CTCF	chr11:5912538-5912688	LNCaP	prostate:	n/a	n/a
37	CTCF	chr11:5912580-5912730	GM12864	blood:	n/a	n/a
38	CTCF	chr11:5912520-5912670	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr11:5912560-5912710	HMEC	breast:	n/a	n/a
40	CTCF	chr11:5912521-5912736	GM12878	blood:	n/a	n/a
41	CTCF	chr11:5912580-5912730	HPF	lung:	n/a	n/a
42	CTCF	chr11:5912520-5912670	AG09309	skin:	n/a	n/a
43	CTCF	chr11:5912740-5912890	HA-sp	spinal cord:	n/a	n/a
44	CTCF	chr11:5912600-5912750	GM12873	blood:	n/a	n/a
45	CTCF	chr11:5912527-5912658	HepG2	liver:	n/a	n/a
46	CTCF	chr11:5912860-5913010	GM12864	blood:	n/a	n/a
47	CTCF	chr11:5912580-5912730	GM12872	blood:	n/a	n/a
48	CTCF	chr11:5912580-5912730	RPTEC	kidney:	n/a	n/a
49	CTCF	chr11:5912720-5912870	WI-38	lung:	n/a	n/a
50	CTCF	chr11:5912360-5912510	HAc	cerebellar:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5905350-5905400	GM06990	blood:	n/a
2	chr11:5878958-5879008	MCF10A-Er-Src	breast:	n/a
3	chr11:5905892-5905942	SKMC	muscle:	n/a
4	chr11:5905350-5905400	HCPEpiC	choroid plexus:	n/a
5	chr11:5879799-5879849	T-47D	breast:	n/a
6	chr11:5905350-5905400	HEK293	kidney:	embryo
7	chr11:5878019-5878069	A549	lung:	n/a
8	chr11:5905892-5905942	HPAEpiC	pulmonary alveolar:	n/a
9	chr11:5878019-5878069	AG04449	skin:	fetal
10	chr11:5879799-5879849	SKMC	muscle:	n/a
11	chr11:5862757-5862807	GM19239	blood:	n/a
12	chr11:5878958-5879008	AG10803	skin:	n/a
13	chr11:5905350-5905400	Hela-S3	cervix:	n/a
14	chr11:5862757-5862807	Hepatocyte	liver:	n/a
15	chr11:5905892-5905942	AG09309	skin:	n/a
16	chr11:5905892-5905942	HUVEC	blood vessel:	n/a
17	chr11:5862757-5862807	GM06990	blood:	n/a
18	chr11:5878019-5878069	GM06990	blood:	n/a
19	chr11:5905892-5905942	LNCaP	prostate:	n/a
20	chr11:5879799-5879849	GM12892	blood:	n/a
21	chr11:5878019-5878069	GM19239	blood:	n/a
22	chr11:5862757-5862807	Hela-S3	cervix:	n/a
23	chr11:5862757-5862807	LNCaP	prostate:	n/a
24	chr11:5862757-5862807	AG10803	skin:	n/a
25	chr11:5905892-5905942	NT2-D1	testis:	n/a
26	chr11:5905350-5905400	HPAEpiC	pulmonary alveolar:	n/a
27	chr11:5878955-5879005	MCF10A-Er-Src	breast:	n/a
28	chr11:5905350-5905400	AG09319	gingival:	n/a
29	chr11:5878955-5879005	SAEC	small airway:	n/a
30	chr11:5905892-5905942	AG09319	gingival:	n/a
31	chr11:5862757-5862807	HCT-116	colon:	n/a
32	chr11:5879799-5879849	AG10803	skin:	n/a
33	chr11:5879799-5879849	ECC-1	luminal epithelium:	n/a
34	chr11:5905892-5905942	BJ	skin:	n/a
35	chr11:5879799-5879849	NHDF-neo	bronchial:	n/a
36	chr11:5878019-5878069	HEK293	kidney:	embryo
37	chr11:5905350-5905400	Caco-2	colon:	n/a
38	chr11:5862757-5862807	HUVEC	blood vessel:	n/a
39	chr11:5878955-5879005	U87	brain:	n/a
40	chr11:5878958-5879008	H1-hESC	embryonic stem cell:	embryo
41	chr11:5862757-5862807	HRCEpiC	kidney:	n/a
42	chr11:5905892-5905942	NHDF-neo	bronchial:	n/a
43	chr11:5905892-5905942	HRCEpiC	kidney:	n/a
44	chr11:5905350-5905400	AoSMC	blood vessel:	n/a
45	chr11:5905350-5905400	SK-N-SH	brain:	n/a
46	chr11:5905892-5905942	HRPEpiC	eye:	n/a
47	chr11:5878958-5879008	SKMC	muscle:	n/a
48	chr11:5878958-5879008	SK-N-SH_RA	brain:	n/a
49	chr11:5862757-5862807	HMEC	breast:	n/a
50	chr11:5878019-5878069	NB4	blood:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:5913304..5915785-chr11:5921263..5923337,2	K562	blood:
2	chr11:5913304..5915785-chr11:5921263..5923337,2	K562	blood:
3	chr11:5884568..5886582-chr11:5891480..5894269,2	K562	blood:
4	chr11:5887307..5889466-chr11:5893246..5895827,2	K562	blood:
5	chr11:5624501..5627132-chr11:5864110..5866579,2	K562	blood:
6	chr11:5497062..5497678-chr11:5912161..5912734,2	MCF-7	breast:
7	chr11:5892127..5895108-chr11:5895655..5898478,2	K562	blood:
8	chr11:5829421..5830302-chr11:5912492..5913020,2	MCF-7	breast:
9	chr11:5877485..5879588-chr11:5881678..5883680,2	K562	blood:

No data

Variant related genes	Relation type
OR52E7P	TF binding region
OR52E6	TF binding region
OR52E4	TF binding region
TRIM5	TF binding region
OR52E8	TF binding region
OR52E7P	CpG island
OR52E6	CpG island
OR52E4	CpG island
TRIM5	CpG island
OR52E8	CpG island
ENSG00000121236	chromatin interactions
ENSG00000233563	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000183269	chromatin interactions

Extended variants
information (count: 899 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:899 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs267603029	chr11:5862204-5862205	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs540768482	chr11:5862213-5862214	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs373574582	chr11:5862219-5862220	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs61739213	chr11:5862238-5862239	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs149498845	chr11:5862247-5862248	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs373150151	chr11:5862250-5862251	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs200527084	chr11:5862253-5862254	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs551827678	chr11:5862262-5862263	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs566857476	chr11:5862264-5862265	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs201729567	chr11:5862287-5862288	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs548958558	chr11:5862297-5862298	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs567349272	chr11:5862300-5862301	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs537730998	chr11:5862301-5862302	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs377292623	chr11:5862311-5862312	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs556052195	chr11:5862315-5862316	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs185269636	chr11:5862339-5862340	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs202185510	chr11:5862341-5862342	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs200392937	chr11:5862383-5862384	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs191469860	chr11:5862404-5862405	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs371025632	chr11:5862405-5862406	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs144038419	chr11:5862408-5862409	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs61735020	chr11:5862416-5862417	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs373794782	chr11:5862424-5862425	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs201582369	chr11:5862425-5862426	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs371170009	chr11:5862434-5862435	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs374552637	chr11:5862436-5862437	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs576142298	chr11:5862437-5862438	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs142759166	chr11:5862442-5862443	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs147386444	chr11:5862457-5862458	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs200082124	chr11:5862459-5862460	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs545284578	chr11:5862475-5862476	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs180749416	chr11:5862479-5862480	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs527760129	chr11:5862507-5862508	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs369411353	chr11:5862531-5862532	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs10742809	chr11:5862532-5862533	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs199724169	chr11:5862566-5862567	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs369185989	chr11:5862588-5862589	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs200669717	chr11:5862607-5862608	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs186181055	chr11:5862608-5862609	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs117588627	chr11:5862612-5862613	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs191900000	chr11:5862618-5862619	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs7943698	chr11:5862619-5862620	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs377318267	chr11:5862621-5862622	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs370635171	chr11:5862633-5862634	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs544618978	chr11:5862649-5862650	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs4357719	chr11:5862653-5862654	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs536337832	chr11:5862667-5862668	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs533328440	chr11:5862703-5862704	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs554722938	chr11:5862709-5862710	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs373651554	chr11:5862714-5862715	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Ependymoma	20639864	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	chr11:5862200-5863000	Active TSS	Brain Substantia Nigra	brain
2	chr11:5867400-5869000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr11:5867800-5868400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:5867800-5868400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:5868400-5869000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:5869000-5869200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:5869000-5869800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:5869800-5870000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr11:5920600-5921200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr11:5920800-5921200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr11:5920800-5921200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:5920800-5921200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:5920800-5921400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr11:5924800-5927600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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