Variant report

Variant	esv2757422
Chromosome Location	chr11:5868055-6007613
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:503)
CpG islands
(count:2321)
Chromatin interactive
region (count:12)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:503 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

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	ATF1	chr11:5867958-5868232	K562	blood:	n/a	n/a
5	BACH1	chr11:5949537-5949904	K562	blood:	n/a	n/a
6	BACH1	chr11:5959190-5959403	K562	blood:	n/a	n/a
7	BACH1	chr11:5949390-5949949	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr11:5959067-5959439	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr11:5944337-5944642	GM12878	blood:	n/a	chr11:5944501-5944512
10	BATF	chr11:5944353-5944624	GM12878	blood:	n/a	chr11:5944501-5944512
11	BCL11A	chr11:5944350-5944565	GM12878	blood:	n/a	n/a
12	BRCA1	chr11:5969009-5969020	HepG2	liver:	n/a	n/a
13	CEBPB	chr11:5872260-5872623	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr11:5977773-5978030	A549	lung:	n/a	chr11:5977915-5977926 chr11:5977913-5977924
15	CEBPB	chr11:5977780-5978051	HepG2	liver:	n/a	chr11:5977915-5977926 chr11:5977913-5977924
16	CEBPB	chr11:5872283-5872577	A549	lung:	n/a	n/a
17	CEBPB	chr11:5872324-5872546	K562	blood:	n/a	n/a
18	CEBPB	chr11:5918399-5918459	IMR90	lung:	n/a	n/a
19	CEBPB	chr11:5872262-5872604	IMR90	lung:	n/a	n/a
20	CEBPB	chr11:5872276-5872519	HepG2	liver:	n/a	n/a
21	CEBPB	chr11:5921253-5921539	HepG2	liver:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
22	CEBPB	chr11:5945178-5945285	K562	blood:	n/a	n/a
23	CEBPB	chr11:5872256-5872635	K562	blood:	n/a	n/a
24	CEBPB	chr11:5921286-5921537	IMR90	lung:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
25	CEBPB	chr11:5872237-5872619	K562	blood:	n/a	n/a
26	CEBPB	chr11:5872999-5873041	K562	blood:	n/a	n/a
27	CEBPB	chr11:5910666-5910889	IMR90	lung:	n/a	n/a
28	CHD2	chr11:5908965-5908994	HepG2	liver:	n/a	n/a
29	CTCF	chr11:5912500-5912650	HPF	lung:	n/a	n/a
30	CTCF	chr11:5912740-5912890	HA-sp	spinal cord:	n/a	n/a
31	CTCF	chr11:5912521-5912736	GM12878	blood:	n/a	n/a
32	CTCF	chr11:5912479-5912724	A549	lung:	n/a	n/a
33	CTCF	chr11:5912520-5912670	GM12871	blood:	n/a	n/a
34	CTCF	chr11:5913016-5913092	LNCaP	prostate:	n/a	n/a
35	CTCF	chr11:5912580-5912730	MCF-7	breast:	n/a	n/a
36	CTCF	chr11:5958240-5958390	A549	lung:	n/a	n/a
37	CTCF	chr11:5912320-5912470	GM12865	blood:	n/a	n/a
38	CTCF	chr11:5912600-5912750	Caco-2	colon:	n/a	n/a
39	CTCF	chr11:5911866-5913034	A549	lung:	n/a	n/a
40	CTCF	chr11:5912560-5912710	HAc	cerebellar:	n/a	n/a
41	CTCF	chr11:6004800-6004950	K562	blood:	n/a	n/a
42	CTCF	chr11:5912860-5913010	GM12873	blood:	n/a	n/a
43	CTCF	chr11:5912500-5912650	GM12872	blood:	n/a	n/a
44	CTCF	chr11:5912802-5912984	GM19238	blood:	n/a	n/a
45	CTCF	chr11:5912632-5912670	Pancreas_OC	pancreas:	n/a	n/a
46	CTCF	chr11:6004823-6004921	K562	blood:	n/a	n/a
47	CTCF	chr11:6004780-6004930	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr11:5912601-5912623	Pancreas_OC	pancreas:	n/a	n/a
49	CTCF	chr11:5912880-5913030	AG09319	gingival:	n/a	n/a
50	CTCF	chr11:5912560-5912710	HUVEC	blood vessel:	n/a	n/a

(count:2321 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5951316-5951366	ECC-1	luminal epithelium:	n/a
2	chr11:5981980-5982030	SKMC	muscle:	n/a
3	chr11:5957864-5957914	AoSMC	blood vessel:	n/a
4	chr11:5951316-5951366	ECC-1	luminal epithelium:	n/a
5	chr11:5981980-5982030	SKMC	muscle:	n/a
6	chr11:5957864-5957914	AoSMC	blood vessel:	n/a
7	chr11:5956998-5957048	HEK293	kidney:	embryo
8	chr11:5960213-5960263	AoSMC	blood vessel:	n/a
9	chr11:5879799-5879849	AG04450	lung:	fetal
10	chr11:5951048-5951098	SKMC	muscle:	n/a
11	chr11:5951360-5951410	CMK	blood:	n/a
12	chr11:5952089-5952139	HEEpiC	esophagus:	n/a
13	chr11:5878958-5879008	HCT-116	colon:	n/a
14	chr11:5951833-5951883	ProgFib	skin:	n/a
15	chr11:5952089-5952139	SK-N-MC	brain:	n/a
16	chr11:5960081-5960131	BE2_C	brain:	n/a
17	chr11:5878019-5878069	HEEpiC	esophagus:	n/a
18	chr11:5878019-5878069	HAEpiC	amniotic membrane:	n/a
19	chr11:5959923-5959973	ProgFib	skin:	n/a
20	chr11:5967520-5967570	HCM	heart:	n/a
21	chr11:5968801-5968851	ECC-1	luminal epithelium:	n/a
22	chr11:5950798-5950848	SK-N-SH_RA	brain:	n/a
23	chr11:5951360-5951410	AoSMC	blood vessel:	n/a
24	chr11:5968801-5968851	LNCaP	prostate:	n/a
25	chr11:5982261-5982311	BJ	skin:	n/a
26	chr11:5905892-5905942	HCF	heart:	n/a
27	chr11:5878958-5879008	BE2_C	brain:	n/a
28	chr11:5878019-5878069	NT2-D1	testis:	n/a
29	chr11:5981980-5982030	NHBE	bronchial:	n/a
30	chr11:5879799-5879849	Caco-2	colon:	n/a
31	chr11:5959239-5959289	HCT-116	colon:	n/a
32	chr11:5951360-5951410	HCPEpiC	choroid plexus:	n/a
33	chr11:5956998-5957048	A549	lung:	n/a
34	chr11:5960081-5960131	NH-A	brain:	n/a
35	chr11:5951048-5951098	RPTEC	kidney:	n/a
36	chr11:6007249-6007299	HUVEC	blood vessel:	n/a
37	chr11:5951956-5952006	SKMC	muscle:	n/a
38	chr11:5950798-5950848	HEEpiC	esophagus:	n/a
39	chr11:5905350-5905400	HAEpiC	amniotic membrane:	n/a
40	chr11:5989222-5989272	T-47D	breast:	n/a
41	chr11:5981980-5982030	HRE	kidney:	n/a
42	chr11:5950798-5950848	AoSMC	blood vessel:	n/a
43	chr11:5957864-5957914	HPAEpiC	pulmonary alveolar:	n/a
44	chr11:5879799-5879849	PFSK-1	brain:	n/a
45	chr11:5879799-5879849	AoSMC	blood vessel:	n/a
46	chr11:5982261-5982311	NHBE	bronchial:	n/a
47	chr11:5905892-5905942	SKMC	muscle:	n/a
48	chr11:5989222-5989272	SAEC	small airway:	n/a
49	chr11:5959239-5959289	HepG2	liver:	n/a
50	chr11:5960081-5960131	GM06990	blood:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:5892127..5895108-chr11:5895655..5898478,2	K562	blood:
2	chr11:5829421..5830302-chr11:5912492..5913020,2	MCF-7	breast:
3	chr11:5950723..5952254-chr7:153108526..153111145,2	K562	blood:
4	chr11:5497062..5497678-chr11:5912161..5912734,2	MCF-7	breast:
5	chr11:5913304..5915785-chr11:5921263..5923337,2	K562	blood:
6	chr11:5887307..5889466-chr11:5893246..5895827,2	K562	blood:
7	chr11:5884568..5886582-chr11:5891480..5894269,2	K562	blood:
8	chr11:5913304..5915785-chr11:5921263..5923337,2	K562	blood:
9	chr11:5877485..5879588-chr11:5881678..5883680,2	K562	blood:
10	chr11:6004815..6007784-chr11:6008495..6010982,2	K562	blood:
11	chr11:5950724..5952240-chr7:153107809..153110032,4	K562	blood:
12	chr11:5952222..5953725-chr7:153106291..153108525,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR56A3-1	chr11:5959981-5960217	ENSG00000255257
2	lnc-OR56A3-1	chr11:5966036-5966214	ENSG00000255257
3	lnc-OR56A3-1	chr11:5964560-5964716	ENSG00000255257

No data

Variant related genes	Relation type
ENSG00000188691	TF binding region
OR52E7P	TF binding region
ENSG00000255257	TF binding region
OR52E6	TF binding region
OR52E4	TF binding region
OR56A3	TF binding region
TRIM5	TF binding region
OR52E8	TF binding region
ENSG00000188691	CpG island
OR52E7P	CpG island
ENSG00000255257	CpG island
OR52E6	CpG island
OR52E4	CpG island
OR56A3	CpG island
TRIM5	CpG island
OR52E8	CpG island
ENSG00000234722	chromatin interactions
ENSG00000183269	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000233563	chromatin interactions

Extended variants
information (count: 1660 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1660 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs935960	chr11:5868055-5868056	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542666248	chr11:5868057-5868058	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs116320465	chr11:5868100-5868101	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs10769277	chr11:5868161-5868162	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs543784602	chr11:5868166-5868167	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs10769278	chr11:5868189-5868190	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs536741010	chr11:5868216-5868217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149147033	chr11:5868222-5868223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565616509	chr11:5868245-5868246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541377303	chr11:5868254-5868255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373201242	chr11:5868290-5868291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185075798	chr11:5868371-5868372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs33915104	chr11:5868447-5868448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563354778	chr11:5868488-5868489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188692975	chr11:5868491-5868492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532306301	chr11:5868522-5868523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1986324	chr11:5868532-5868533	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs1986325	chr11:5868537-5868538	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs552149941	chr11:5868632-5868633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536329814	chr11:5868634-5868635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563862571	chr11:5868637-5868638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7101973	chr11:5868651-5868652	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs538908546	chr11:5868659-5868660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547689790	chr11:5868673-5868674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565909223	chr11:5868687-5868688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531261524	chr11:5868698-5868699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528364817	chr11:5868817-5868818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554900757	chr11:5868830-5868831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12294944	chr11:5868863-5868864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180702828	chr11:5868869-5868870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146985217	chr11:5868914-5868915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558900802	chr11:5868951-5868952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185397621	chr11:5868953-5868954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541278394	chr11:5868955-5868956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs137983072	chr11:5868966-5868967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12295011	chr11:5868981-5868982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78454858	chr11:5869049-5869050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567616582	chr11:5869079-5869080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542027637	chr11:5869110-5869111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12269998	chr11:5869124-5869125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143541569	chr11:5869126-5869127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74258863	chr11:5869165-5869166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6578692	chr11:5869173-5869174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6578693	chr11:5869181-5869182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564065139	chr11:5869208-5869209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528098259	chr11:5869247-5869248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150545305	chr11:5869274-5869275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372808621	chr11:5869322-5869323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189378603	chr11:5869468-5869469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4540853	chr11:5869482-5869483	Weak transcription	n/a	n/a	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5867400-5869000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr11:5867800-5868400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:5867800-5868400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:5868400-5869000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:5869000-5869200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:5869000-5869800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:5869800-5870000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr11:5920600-5921200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr11:5920800-5921200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr11:5920800-5921200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:5920800-5921200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:5920800-5921400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr11:5924800-5927600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:5927600-5927800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:5944000-5944600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:5944000-5944600	Enhancers	A549	lung
17	chr11:5944000-5944800	Enhancers	GM12878-XiMat	blood
18	chr11:5944000-5945000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:5944000-5945200	Enhancers	NHEK	skin
20	chr11:5944000-5945400	Enhancers	HMEC	breast
21	chr11:5944200-5945000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:5950800-5951600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:5952000-5953000	ZNF genes & repeats	Pancreas	Pancrea
24	chr11:5952800-5959000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:5959000-5959400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:5959000-5960600	ZNF genes & repeats	Placenta	Placenta
27	chr11:5959400-5962000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:5960600-5961000	Enhancers	Placenta	Placenta
29	chr11:5974400-5974800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr11:5992200-5996000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:5992600-5992800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
32	chr11:6003200-6003600	ZNF genes & repeats	Pancreas	Pancrea

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