Variant report

Variant	esv2754427
Chromosome Location	chr11:4793549-4810364
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:64)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:64 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:4802820-4802858	K562	blood:	n/a	chr11:4802839-4802852 chr11:4802839-4802852 chr11:4802841-4802852
2	CTCF	chr11:4804280-4804430	GM12871	blood:	n/a	n/a
3	CTCF	chr11:4804259-4804393	GM12878	blood:	n/a	n/a
4	CTCF	chr11:4804220-4804370	GM12864	blood:	n/a	n/a
5	CTCF	chr11:4804400-4804550	GM12878	blood:	n/a	n/a
6	CTCF	chr11:4804190-4804400	GM12878	blood:	n/a	n/a
7	CTCF	chr11:4804200-4804350	AG04449	skin:	n/a	n/a
8	CTCF	chr11:4804240-4804390	GM12868	blood:	n/a	n/a
9	CTCF	chr11:4804240-4804390	GM06990	blood:	n/a	n/a
10	CTCF	chr11:4804255-4804390	GM12891	blood:	n/a	n/a
11	CTCF	chr11:4804220-4804370	GM12875	blood:	n/a	n/a
12	CTCF	chr11:4804278-4804347	GM19239	blood:	n/a	n/a
13	CTCF	chr11:4804244-4804343	GM13977	blood:	n/a	n/a
14	CTCF	chr11:4804260-4804410	GM12866	blood:	n/a	n/a
15	CTCF	chr11:4804260-4804410	GM12872	blood:	n/a	n/a
16	CTCF	chr11:4804220-4804370	GM12870	blood:	n/a	n/a
17	CTCF	chr11:4804260-4804410	AG04450	lung:	n/a	n/a
18	CTCF	chr11:4804260-4804410	GM12871	blood:	n/a	n/a
19	CTCF	chr11:4804278-4804380	GM19238	blood:	n/a	n/a
20	CTCF	chr11:4802939-4802988	ProgFib	skin:	n/a	n/a
21	CTCF	chr11:4802760-4802868	K562	blood:	n/a	n/a
22	CTCF	chr11:4804240-4804390	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr11:4804199-4804444	K562	blood:	n/a	n/a
24	CTCF	chr11:4804240-4804390	GM12873	blood:	n/a	n/a
25	CTCF	chr11:4804200-4804409	K562	blood:	n/a	n/a
26	CTCF	chr11:4804220-4804370	GM12865	blood:	n/a	n/a
27	CTCF	chr11:4804272-4804394	K562	blood:	n/a	n/a
28	CTCF	chr11:4807280-4807430	HEK293	kidney:	n/a	n/a
29	CTCF	chr11:4804254-4804393	K562	blood:	n/a	n/a
30	CTCF	chr11:4804200-4804350	GM12874	blood:	n/a	n/a
31	CTCF	chr11:4804340-4804490	WI-38	lung:	n/a	n/a
32	CTCF	chr11:4804246-4804395	GM12892	blood:	n/a	n/a
33	CTCF	chr11:4804160-4804310	GM12867	blood:	n/a	n/a
34	CTCF	chr11:4804260-4804410	GM12874	blood:	n/a	n/a
35	CTCF	chr11:4804220-4804370	GM06990	blood:	n/a	n/a
36	CTCF	chr11:4804300-4804450	GM12864	blood:	n/a	n/a
37	CTCF	chr11:4804220-4804370	GM12878	blood:	n/a	n/a
38	CTCF	chr11:4804273-4804341	GM19240	blood:	n/a	n/a
39	CTCF	chr11:4804247-4804395	IMR90	lung:	n/a	n/a
40	CTCF	chr11:4804240-4804390	GM12872	blood:	n/a	n/a
41	CTCF	chr11:4804240-4804390	GM12869	blood:	n/a	n/a
42	CTCF	chr11:4804260-4804410	AG04449	skin:	n/a	n/a
43	CTCF	chr11:4804220-4804370	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr11:4804240-4804390	HEK293	kidney:	n/a	n/a
45	CTCF	chr11:4804260-4804410	GM12864	blood:	n/a	n/a
46	CTCF	chr11:4804220-4804370	GM12866	blood:	n/a	n/a
47	CTCF	chr11:4804220-4804370	K562	blood:	n/a	n/a
48	FOXA2	chr11:4802771-4802912	A549	lung:	n/a	n/a
49	FOXA2	chr11:4802582-4803047	A549	lung:	n/a	n/a
50	FOXP2	chr11:4802787-4803011	SK-N-MC	brain:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:4801044-4820112..11:5700314-5707362	H1-hESC	embryonic stem cell:	embryo
2	11:4794705-4799792..11:5721056-5732713	K562	blood:
3	11:4789513-4794705..11:5380014-5384338	H1-hESC	embryonic stem cell:	embryo
4	11:4789513-4794705..11:5033143-5038367	K562	blood:
5	11:4794705-4799792..11:5714465-5718134	H1-hESC	embryonic stem cell:	embryo
6	11:4789513-4794705..11:4799792-4801044	GM12878	blood:
7	11:4794705-4799792..11:5700314-5707362	K562	blood:
8	11:4789513-4794705..11:4988858-5002113	Hela-S3	cervix:
9	11:4794705-4799792..11:5527719-5533869	GM12878	blood:
10	chr11:4806483..4808284-chr11:4810226..4812694,2	K562	blood:

No data

Variant related genes	Relation type
OR51N1P	TF binding region
OR51F1	TF binding region
ENSG00000224300	chromatin interactions
ENSG00000175520	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000176951	chromatin interactions
ENSG00000225003	chromatin interactions
ENSG00000188069	chromatin interactions
ENSG00000236248	chromatin interactions
ENSG00000132274	chromatin interactions

Extended variants
information (count: 836 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:836 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17227393	chr11:4793549-4793550	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs74055004	chr11:4793590-4793591	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530446256	chr11:4793606-4793607	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs186292899	chr11:4793617-4793618	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs559162597	chr11:4793632-4793633	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs142969371	chr11:4793638-4793639	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs199624394	chr11:4793640-4793641	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs542741572	chr11:4793641-4793642	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs561019573	chr11:4793643-4793644	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs531624152	chr11:4793644-4793645	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs543760262	chr11:4793645-4793646	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs11033816	chr11:4793649-4793650	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs532888739	chr11:4793656-4793657	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs548102567	chr11:4793667-4793668	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs566313716	chr11:4793697-4793698	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs73397074	chr11:4793703-4793704	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs147488135	chr11:4793747-4793748	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs79247095	chr11:4793754-4793755	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs191074768	chr11:4793755-4793756	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs34170551	chr11:4793773-4793774	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs17227456	chr11:4793782-4793783	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs534951865	chr11:4793795-4793796	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs143661932	chr11:4793804-4793805	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs574313905	chr11:4793821-4793822	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs17227484	chr11:4793882-4793883	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs12289275	chr11:4793888-4793889	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs150562252	chr11:4793958-4793959	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs576436205	chr11:4794013-4794014	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs543549883	chr11:4794087-4794088	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs117756283	chr11:4794092-4794093	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs12789492	chr11:4794119-4794120	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs541776614	chr11:4794128-4794129	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs12272571	chr11:4794183-4794184	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs17227547	chr11:4794193-4794194	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs571030154	chr11:4794202-4794203	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs540098561	chr11:4794217-4794218	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs374519723	chr11:4794218-4794219	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs181494503	chr11:4794235-4794236	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs139656371	chr11:4794237-4794238	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs375150285	chr11:4794240-4794241	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs530669873	chr11:4794247-4794248	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs551969086	chr11:4794249-4794250	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs553719660	chr11:4794268-4794269	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs73397084	chr11:4794300-4794301	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs566448431	chr11:4794341-4794342	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs35902686	chr11:4794365-4794366	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs75399953	chr11:4794393-4794394	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs186008668	chr11:4794413-4794414	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs11606605	chr11:4794426-4794427	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs186771896	chr11:4794427-4794428	Inactive region	Chromatin interactive region	3 gene(s)	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
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4797800-4798200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:4808000-4808400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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