Variant report

Variant	esv1806557
Chromosome Location	chr11:4778433-4820481
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:91)
CpG islands
(count:122)
Chromatin interactive
region (count:26)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:91 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:4793218-4793283	K562	blood:	n/a	n/a
2	CEBPB	chr11:4802820-4802858	K562	blood:	n/a	chr11:4802839-4802852 chr11:4802839-4802852 chr11:4802841-4802852
3	CEBPB	chr11:4815769-4815953	K562	blood:	n/a	n/a
4	CEBPB	chr11:4779256-4779493	HepG2	liver:	n/a	chr11:4779363-4779374
5	CEBPB	chr11:4811479-4811616	K562	blood:	n/a	n/a
6	CEBPB	chr11:4786195-4786260	HepG2	liver:	n/a	chr11:4786226-4786237
7	CTCF	chr11:4802939-4802988	ProgFib	skin:	n/a	n/a
8	CTCF	chr11:4804260-4804410	AG04450	lung:	n/a	n/a
9	CTCF	chr11:4804220-4804370	GM12875	blood:	n/a	n/a
10	CTCF	chr11:4804199-4804444	K562	blood:	n/a	n/a
11	CTCF	chr11:4804260-4804410	GM12872	blood:	n/a	n/a
12	CTCF	chr11:4804272-4804394	K562	blood:	n/a	n/a
13	CTCF	chr11:4804190-4804400	GM12878	blood:	n/a	n/a
14	CTCF	chr11:4804340-4804490	WI-38	lung:	n/a	n/a
15	CTCF	chr11:4802760-4802868	K562	blood:	n/a	n/a
16	CTCF	chr11:4804240-4804390	GM12869	blood:	n/a	n/a
17	CTCF	chr11:4804300-4804450	GM12864	blood:	n/a	n/a
18	CTCF	chr11:4804254-4804393	K562	blood:	n/a	n/a
19	CTCF	chr11:4804278-4804380	GM19238	blood:	n/a	n/a
20	CTCF	chr11:4804240-4804390	GM06990	blood:	n/a	n/a
21	CTCF	chr11:4804260-4804410	GM12864	blood:	n/a	n/a
22	CTCF	chr11:4804273-4804341	GM19240	blood:	n/a	n/a
23	CTCF	chr11:4804280-4804430	GM12871	blood:	n/a	n/a
24	CTCF	chr11:4804220-4804370	GM12866	blood:	n/a	n/a
25	CTCF	chr11:4804246-4804395	GM12892	blood:	n/a	n/a
26	CTCF	chr11:4804260-4804410	GM12866	blood:	n/a	n/a
27	CTCF	chr11:4804240-4804390	GM12868	blood:	n/a	n/a
28	CTCF	chr11:4804200-4804409	K562	blood:	n/a	n/a
29	CTCF	chr11:4820319-4820345	GM10248	blood:	n/a	n/a
30	CTCF	chr11:4804255-4804390	GM12891	blood:	n/a	n/a
31	CTCF	chr11:4804240-4804390	HEK293	kidney:	n/a	n/a
32	CTCF	chr11:4804200-4804350	AG04449	skin:	n/a	n/a
33	CTCF	chr11:4804260-4804410	GM12874	blood:	n/a	n/a
34	CTCF	chr11:4807280-4807430	HEK293	kidney:	n/a	n/a
35	CTCF	chr11:4804220-4804370	GM06990	blood:	n/a	n/a
36	CTCF	chr11:4804259-4804393	GM12878	blood:	n/a	n/a
37	CTCF	chr11:4804220-4804370	GM12864	blood:	n/a	n/a
38	CTCF	chr11:4804400-4804550	GM12878	blood:	n/a	n/a
39	CTCF	chr11:4804240-4804390	GM12872	blood:	n/a	n/a
40	CTCF	chr11:4804240-4804390	WERI-Rb-1	eye:	n/a	n/a
41	CTCF	chr11:4804220-4804370	GM12870	blood:	n/a	n/a
42	CTCF	chr11:4804278-4804347	GM19239	blood:	n/a	n/a
43	CTCF	chr11:4804244-4804343	GM13977	blood:	n/a	n/a
44	CTCF	chr11:4804240-4804390	GM12873	blood:	n/a	n/a
45	CTCF	chr11:4804220-4804370	K562	blood:	n/a	n/a
46	CTCF	chr11:4804200-4804350	GM12874	blood:	n/a	n/a
47	CTCF	chr11:4804247-4804395	IMR90	lung:	n/a	n/a
48	CTCF	chr11:4804260-4804410	AG04449	skin:	n/a	n/a
49	CTCF	chr11:4804220-4804370	GM12865	blood:	n/a	n/a
50	CTCF	chr11:4804160-4804310	GM12867	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4792272-4792322	LNCaP	prostate:	n/a
2	chr11:4791012-4791062	NB4	blood:	n/a
3	chr11:4792272-4792322	HIPEpiC	eye:	n/a
4	chr11:4792272-4792322	HPAEpiC	pulmonary alveolar:	n/a
5	chr11:4792272-4792322	HepG2	liver:	n/a
6	chr11:4792272-4792322	HAEpiC	amniotic membrane:	n/a
7	chr11:4792272-4792322	SKMC	muscle:	n/a
8	chr11:4791012-4791062	MCF10A-Er-Src	breast:	n/a
9	chr11:4791012-4791062	K562	blood:	n/a
10	chr11:4791012-4791062	HCM	heart:	n/a
11	chr11:4792272-4792322	PrEC	prostate:	n/a
12	chr11:4792272-4792322	HNPCEpiC	eye:	n/a
13	chr11:4791012-4791062	AG04449	skin:	fetal
14	chr11:4792272-4792322	HRPEpiC	eye:	n/a
15	chr11:4791012-4791062	SAEC	small airway:	n/a
16	chr11:4791012-4791062	Caco-2	colon:	n/a
17	chr11:4791012-4791062	HEK293	kidney:	embryo
18	chr11:4791012-4791062	AoSMC	blood vessel:	n/a
19	chr11:4791012-4791062	CMK	blood:	n/a
20	chr11:4792272-4792322	ovcar-3	ovarian:	n/a
21	chr11:4791012-4791062	GM12892	blood:	n/a
22	chr11:4792272-4792322	SK-N-SH	brain:	n/a
23	chr11:4792272-4792322	AG04449	skin:	fetal
24	chr11:4792272-4792322	IMR90	lung:	fetal
25	chr11:4791012-4791062	HEEpiC	esophagus:	n/a
26	chr11:4792272-4792322	PFSK-1	brain:	n/a
27	chr11:4791012-4791062	H1-hESC	embryonic stem cell:	embryo
28	chr11:4791012-4791062	Jurkat	blood:	n/a
29	chr11:4791012-4791062	RPTEC	kidney:	n/a
30	chr11:4792272-4792322	CMK	blood:	n/a
31	chr11:4792272-4792322	GM12891	blood:	n/a
32	chr11:4791012-4791062	NHDF-neo	bronchial:	n/a
33	chr11:4791012-4791062	HMEC	breast:	n/a
34	chr11:4792272-4792322	NH-A	brain:	n/a
35	chr11:4791012-4791062	MCF-7	breast:	n/a
36	chr11:4792272-4792322	HUVEC	blood vessel:	n/a
37	chr11:4792272-4792322	NHBE	bronchial:	n/a
38	chr11:4791012-4791062	SKMC	muscle:	n/a
39	chr11:4791012-4791062	GM06990	blood:	n/a
40	chr11:4792272-4792322	ProgFib	skin:	n/a
41	chr11:4791012-4791062	ProgFib	skin:	n/a
42	chr11:4791012-4791062	AG09309	skin:	n/a
43	chr11:4792272-4792322	RPTEC	kidney:	n/a
44	chr11:4792272-4792322	GM19239	blood:	n/a
45	chr11:4792272-4792322	BE2_C	brain:	n/a
46	chr11:4791012-4791062	HRPEpiC	eye:	n/a
47	chr11:4791012-4791062	HUVEC	blood vessel:	n/a
48	chr11:4792272-4792322	AG09319	gingival:	n/a
49	chr11:4791012-4791062	AG04450	lung:	fetal
50	chr11:4792272-4792322	SK-N-MC	brain:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:4794705-4799792..11:5714465-5718134	H1-hESC	embryonic stem cell:	embryo
2	chr11:4778466..4780961-chr11:4783951..4785593,2	K562	blood:
3	11:4794705-4799792..11:5527719-5533869	GM12878	blood:
4	11:4820112-4824892..11:5018576-5020673	H1-hESC	embryonic stem cell:	embryo
5	11:4778081-4789138..11:4988858-5002113	Hela-S3	cervix:
6	chr11:4780407..4782336-chr11:4786292..4788948,2	K562	blood:
7	11:4789513-4794705..11:4799792-4801044	GM12878	blood:
8	11:4794705-4799792..11:5721056-5732713	K562	blood:
9	chr11:4785049..4787150-chr11:4787794..4789663,2	K562	blood:
10	chr11:4789671..4792092-chr11:4812812..4815235,2	K562	blood:
11	11:4778081-4789138..11:5740069-5747001	K562	blood:
12	11:4789513-4794705..11:5380014-5384338	H1-hESC	embryonic stem cell:	embryo
13	11:4801044-4820112..11:5700314-5707362	H1-hESC	embryonic stem cell:	embryo
14	11:4778081-4789138..11:5033143-5038367	K562	blood:
15	chr11:4817686..4819750-chr11:4821906..4823690,2	K562	blood:
16	11:4789513-4794705..11:5033143-5038367	K562	blood:
17	11:4820112-4824892..11:5527719-5533869	H1-hESC	embryonic stem cell:	embryo
18	11:4820112-4824892..11:5700314-5707362	K562	blood:
19	11:4820112-4824892..11:5721056-5732713	H1-hESC	embryonic stem cell:	embryo
20	chr11:4783931..4787132-chr11:4790389..4793666,3	K562	blood:
21	chr11:4779685..4780186-chr13:39427810..39428310,2	MCF-7	breast:
22	chr11:4778466..4780961-chr11:4783951..4785593,2	K562	blood:
23	chr11:4776926..4782057-chr11:4782402..4785593,4	K562	blood:
24	11:4789513-4794705..11:4988858-5002113	Hela-S3	cervix:
25	11:4794705-4799792..11:5700314-5707362	K562	blood:
26	chr11:4806483..4808284-chr11:4810226..4812694,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR52R1-1	chr11:4815008-4815466	NONHSAT017656
2	lnc-OR52R1-1	chr11:4816146-4816514	NONHSAT017656
3	lnc-MMP26-1	chr11:4788500-4788571	NONHSAT017654

No data

Variant related genes	Relation type
OR51N1P	TF binding region
OR52Y1P	TF binding region
OR51F1	TF binding region
MMP26	TF binding region
OR51F4P	TF binding region
OR51N1P	CpG island
OR52Y1P	CpG island
OR51F1	CpG island
MMP26	CpG island
OR51F4P	CpG island
ENSG00000176951	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000167346	chromatin interactions
ENSG00000232381	chromatin interactions
ENSG00000201980	chromatin interactions
ENSG00000236248	chromatin interactions
ENSG00000176798	chromatin interactions
ENSG00000188069	chromatin interactions
ENSG00000132274	chromatin interactions
ENSG00000224300	chromatin interactions
ENSG00000225003	chromatin interactions
ENSG00000175520	chromatin interactions

Extended variants
information (count: 1990 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1990 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11033730	chr11:4778433-4778434	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs199958815	chr11:4778439-4778440	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs530097942	chr11:4778486-4778487	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs572054328	chr11:4778507-4778508	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs569997238	chr11:4778519-4778520	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs143552916	chr11:4778560-4778561	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs552936166	chr11:4778573-4778574	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs146827730	chr11:4778578-4778579	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs535257898	chr11:4778618-4778619	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs75572817	chr11:4778682-4778683	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs568159373	chr11:4778686-4778687	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs535157607	chr11:4778709-4778710	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs557018339	chr11:4778725-4778726	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs12277882	chr11:4778726-4778727	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs61883474	chr11:4778729-4778730	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs557651406	chr11:4778737-4778738	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs7948259	chr11:4778756-4778757	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs572767070	chr11:4778783-4778784	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs577863847	chr11:4778792-4778793	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs540047000	chr11:4778794-4778795	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs561498521	chr11:4778795-4778796	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs573774320	chr11:4778797-4778798	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs116300468	chr11:4778811-4778812	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs368312071	chr11:4778817-4778818	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs538180373	chr11:4778825-4778826	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs116589759	chr11:4778879-4778880	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs189347056	chr11:4778997-4778998	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs552579511	chr11:4779013-4779014	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs553564335	chr11:4779030-4779031	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs368562522	chr11:4779043-4779044	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs564789172	chr11:4779048-4779049	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs573556324	chr11:4779082-4779083	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs181844308	chr11:4779134-4779135	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs114047768	chr11:4779137-4779138	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs561444040	chr11:4779141-4779142	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs568609447	chr11:4779192-4779193	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs536038411	chr11:4779274-4779275	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs186537059	chr11:4779280-4779281	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs568905501	chr11:4779286-4779287	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs539062383	chr11:4779292-4779293	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs190199912	chr11:4779293-4779294	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs572803737	chr11:4779337-4779338	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs113005054	chr11:4779379-4779380	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs533878427	chr11:4779393-4779394	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs368817072	chr11:4779395-4779396	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs555624121	chr11:4779428-4779429	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs368749011	chr11:4779467-4779468	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs80263091	chr11:4779552-4779553	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs12272857	chr11:4779562-4779563	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs181898745	chr11:4779604-4779605	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4780400-4781000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr11:4784000-4784800	Enhancers	GM12878-XiMat	blood
3	chr11:4797800-4798200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:4808000-4808400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:4815400-4816200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:4815800-4816000	Enhancers	Small Intestine	intestine
7	chr11:4816200-4820200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:4816400-4816600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:4816400-4816800	Enhancers	Gastric	stomach
10	chr11:4816800-4817000	Weak transcription	Gastric	stomach
11	chr11:4817000-4817400	Enhancers	Gastric	stomach
12	chr11:4817200-4817400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:4817400-4821200	Weak transcription	Gastric	stomach
14	chr11:4817600-4817800	Enhancers	Stomach Mucosa	stomach
15	chr11:4818000-4818800	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr11:4818600-4818800	Enhancers	Stomach Mucosa	stomach
17	chr11:4820200-4820400	Enhancers	Stomach Mucosa	stomach
18	chr11:4820200-4821000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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