Variant report

Variant	esv2757418
Chromosome Location	chr11:4510285-4562458
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:618)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:618 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:4560933-4561036	K562	blood:	n/a	n/a
2	ATF1	chr11:4514547-4514747	K562	blood:	n/a	n/a
3	BATF	chr11:4514210-4514762	GM12878	blood:	n/a	n/a
4	BATF	chr11:4514308-4514557	GM12878	blood:	n/a	n/a
5	BCL11A	chr11:4514425-4514768	GM12878	blood:	n/a	n/a
6	BCL11A	chr11:4514325-4514757	GM12878	blood:	n/a	n/a
7	BHLHE40	chr11:4514088-4514588	K562	blood:	n/a	n/a
8	BHLHE40	chr11:4514262-4514648	GM12878	blood:	n/a	n/a
9	CEBPB	chr11:4551821-4552021	A549	lung:	n/a	n/a
10	CEBPB	chr11:4540065-4540287	HepG2	liver:	n/a	chr11:4540117-4540130
11	CEBPB	chr11:4511852-4512146	A549	lung:	n/a	chr11:4511948-4511959
12	CEBPB	chr11:4511807-4512092	IMR90	lung:	n/a	chr11:4511948-4511959
13	CEBPB	chr11:4521640-4521844	A549	lung:	n/a	chr11:4521689-4521700
14	CEBPB	chr11:4511844-4512110	HepG2	liver:	n/a	chr11:4511948-4511959
15	CEBPB	chr11:4516863-4517063	K562	blood:	n/a	n/a
16	CEBPB	chr11:4511868-4512046	K562	blood:	n/a	chr11:4511948-4511959
17	CEBPB	chr11:4521549-4521828	K562	blood:	n/a	chr11:4521689-4521700
18	CEBPB	chr11:4511930-4511964	H1-hESC	embryonic stem cell:	n/a	chr11:4511948-4511959
19	CEBPB	chr11:4512084-4512518	MCF-7	breast:	n/a	n/a
20	CEBPB	chr11:4521534-4521859	HepG2	liver:	n/a	chr11:4521689-4521700
21	CEBPB	chr11:4544032-4544147	K562	blood:	n/a	n/a
22	CEBPB	chr11:4521600-4521789	H1-hESC	embryonic stem cell:	n/a	chr11:4521689-4521700
23	CEBPB	chr11:4521334-4521828	IMR90	lung:	n/a	chr11:4521689-4521700
24	CTCF	chr11:4560940-4561090	HepG2	liver:	n/a	n/a
25	CTCF	chr11:4560921-4561219	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr11:4560940-4561090	HCFaa	heart:	n/a	n/a
27	CTCF	chr11:4560824-4561220	A549	lung:	n/a	n/a
28	CTCF	chr11:4560945-4561161	HepG2	liver:	n/a	n/a
29	CTCF	chr11:4560940-4561090	HCM	heart:	n/a	n/a
30	CTCF	chr11:4514441-4514922	MCF-7	breast:	n/a	n/a
31	CTCF	chr11:4514341-4514810	K562	blood:	n/a	n/a
32	CTCF	chr11:4561660-4561810	SAEC	small airway:	n/a	n/a
33	CTCF	chr11:4560960-4561110	GM12875	blood:	n/a	n/a
34	CTCF	chr11:4514489-4514815	GM19238	blood:	n/a	n/a
35	CTCF	chr11:4536928-4536971	GM19239	blood:	n/a	n/a
36	CTCF	chr11:4514397-4514826	GM12878	blood:	n/a	n/a
37	CTCF	chr11:4514600-4514750	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr11:4560960-4561110	HEEpiC	esophagus:	n/a	n/a
39	CTCF	chr11:4514480-4514630	K562	blood:	n/a	n/a
40	CTCF	chr11:4560831-4561204	A549	lung:	n/a	n/a
41	CTCF	chr11:4560914-4561187	Spleen_OC	spleen:	n/a	n/a
42	CTCF	chr11:4561000-4561150	BJ	skin:	n/a	n/a
43	CTCF	chr11:4514543-4514789	ProgFib	skin:	n/a	n/a
44	CTCF	chr11:4514480-4514630	GM12864	blood:	n/a	n/a
45	CTCF	chr11:4514985-4515036	GM19238	blood:	n/a	n/a
46	CTCF	chr11:4561304-4561367	Medullo	brain:	n/a	n/a
47	CTCF	chr11:4514580-4514730	SAEC	small airway:	n/a	n/a
48	CTCF	chr11:4514437-4514812	K562	blood:	n/a	n/a
49	CTCF	chr11:4560940-4561090	SAEC	small airway:	n/a	n/a
50	CTCF	chr11:4514580-4514730	GM12872	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4510366-4510416	GM12892	blood:	n/a
2	chr11:4510366-4510416	NHDF-neo	bronchial:	n/a
3	chr11:4510366-4510416	ovcar-3	ovarian:	n/a
4	chr11:4510366-4510416	LNCaP	prostate:	n/a
5	chr11:4510366-4510416	AG04449	skin:	fetal
6	chr11:4510366-4510416	AG09309	skin:	n/a
7	chr11:4510366-4510416	AG09319	gingival:	n/a
8	chr11:4510366-4510416	PrEC	prostate:	n/a
9	chr11:4510366-4510416	HRCEpiC	kidney:	n/a
10	chr11:4510366-4510416	HIPEpiC	eye:	n/a
11	chr11:4510366-4510416	CMK	blood:	n/a
12	chr11:4510366-4510416	HCM	heart:	n/a
13	chr11:4510366-4510416	HRPEpiC	eye:	n/a
14	chr11:4510366-4510416	Caco-2	colon:	n/a
15	chr11:4510366-4510416	IMR90	lung:	fetal
16	chr11:4510366-4510416	NB4	blood:	n/a
17	chr11:4510366-4510416	NHBE	bronchial:	n/a
18	chr11:4510366-4510416	SK-N-SH	brain:	n/a
19	chr11:4510366-4510416	HCPEpiC	choroid plexus:	n/a
20	chr11:4510366-4510416	RPTEC	kidney:	n/a
21	chr11:4510366-4510416	HUVEC	blood vessel:	n/a
22	chr11:4510366-4510416	AG04450	lung:	fetal
23	chr11:4510366-4510416	Jurkat	blood:	n/a
24	chr11:4510366-4510416	BJ	skin:	n/a
25	chr11:4510366-4510416	K562	blood:	n/a
26	chr11:4510366-4510416	U87	brain:	n/a
27	chr11:4510366-4510416	SAEC	small airway:	n/a
28	chr11:4510366-4510416	HCF	heart:	n/a
29	chr11:4510366-4510416	HMEC	breast:	n/a
30	chr11:4510366-4510416	A549	lung:	n/a
31	chr11:4510366-4510416	GM06990	blood:	n/a
32	chr11:4510366-4510416	HEK293	kidney:	embryo
33	chr11:4510366-4510416	GM12891	blood:	n/a
34	chr11:4510366-4510416	AoSMC	blood vessel:	n/a
35	chr11:4510366-4510416	MCF10A-Er-Src	breast:	n/a
36	chr11:4510366-4510416	PANC-1	pancreas:	n/a
37	chr11:4510366-4510416	H1-hESC	embryonic stem cell:	embryo
38	chr11:4510366-4510416	HepG2	liver:	n/a
39	chr11:4510366-4510416	PFSK-1	brain:	n/a
40	chr11:4510366-4510416	NT2-D1	testis:	n/a
41	chr11:4510366-4510416	MCF-7	breast:	n/a
42	chr11:4510366-4510416	T-47D	breast:	n/a
43	chr11:4510366-4510416	NH-A	brain:	n/a
44	chr11:4510366-4510416	ProgFib	skin:	n/a
45	chr11:4510366-4510416	HNPCEpiC	eye:	n/a
46	chr11:4510366-4510416	SK-N-MC	brain:	n/a
47	chr11:4510366-4510416	GM19239	blood:	n/a
48	chr11:4510366-4510416	AG10803	skin:	n/a
49	chr11:4510366-4510416	HCT-116	colon:	n/a
50	chr11:4510366-4510416	ECC-1	luminal epithelium:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:4208123..4209247-chr11:4514343..4515119,4	MCF-7	breast:
2	chr11:4208014..4209388-chr11:4560615..4561905,12	MCF-7	breast:
3	chr11:4531179..4533009-chr11:4535130..4536667,2	K562	blood:
4	chr11:4531179..4533009-chr11:4535130..4536667,2	K562	blood:
5	chr11:4558523..4560457-chr11:4563023..4565124,2	K562	blood:
6	chr11:4208297..4209495-chr11:4560565..4561805,6	K562	blood:
7	chr11:4208460..4209382-chr11:4513705..4515541,8	MCF-7	breast:
8	chr11:4544362..4546597-chr11:4548286..4550810,3	K562	blood:
9	chr11:4544362..4546597-chr11:4548286..4550810,3	K562	blood:
10	chr11:4202964..4204119-chr11:4560777..4561880,3	MCF-7	breast:
11	chr11:4208191..4209065-chr11:4560550..4561852,3	MCF-7	breast:
12	chr11:4535006..4537782-chr11:4538961..4542552,3	K562	blood:

No data

Variant related genes	Relation type
OR52M1	TF binding region
OR52M2P	TF binding region
OR52M1	CpG island
OR52M2P	CpG island
ENSG00000226616	chromatin interactions
ENSG00000254480	chromatin interactions

Extended variants
information (count: 1542 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1542 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs96489	chr11:4510285-4510286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs367734782	chr11:4510286-4510287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200081615	chr11:4510287-4510288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369805748	chr11:4510291-4510292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187690082	chr11:4510292-4510293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142040619	chr11:4510327-4510328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145753082	chr11:4510336-4510337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568373516	chr11:4510337-4510338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138616789	chr11:4510342-4510343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200029336	chr11:4510343-4510344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376395151	chr11:4510357-4510358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568987040	chr11:4510365-4510366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201104279	chr11:4510366-4510367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139078347	chr11:4510375-4510376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537539173	chr11:4510404-4510405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs202235407	chr11:4510418-4510419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147596013	chr11:4510430-4510431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370066776	chr11:4510436-4510437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141745573	chr11:4510487-4510488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147098497	chr11:4510490-4510491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147734448	chr11:4510493-4510494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200982565	chr11:4510500-4510501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368528167	chr11:4510501-4510502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372553031	chr11:4510527-4510528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375481739	chr11:4510536-4510537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141250648	chr11:4510537-4510538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185726722	chr11:4510538-4510539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201879394	chr11:4510547-4510548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs3889581	chr11:4510553-4510554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148302381	chr11:4510564-4510565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201542937	chr11:4510581-4510582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs331510	chr11:4510587-4510588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs371666945	chr11:4510588-4510589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145681165	chr11:4510625-4510626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540224201	chr11:4510627-4510628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138371378	chr11:4510629-4510630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529182149	chr11:4510630-4510631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142554979	chr11:4510631-4510632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146003159	chr11:4510644-4510645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139948093	chr11:4510645-4510646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533004771	chr11:4510656-4510657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201805149	chr11:4510691-4510692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149330150	chr11:4510695-4510696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570619154	chr11:4510699-4510700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368894405	chr11:4510720-4510721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373087773	chr11:4510729-4510730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377296491	chr11:4510747-4510748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369848783	chr11:4510756-4510757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144424896	chr11:4510773-4510774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201969672	chr11:4510794-4510795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Autism	22495311	CNVD
Lung cancer	18438408	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
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4504200-4514000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:4507800-4513800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr11:4508400-4513600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr11:4510600-4511000	Enhancers	Gastric	stomach
5	chr11:4513600-4514000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:4513600-4514200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:4513600-4514200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr11:4513600-4514400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr11:4513600-4514400	Enhancers	NHDF-Ad	bronchial
10	chr11:4513600-4514600	Enhancers	Fetal Intestine Small	intestine
11	chr11:4513800-4514200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr11:4513800-4514200	Enhancers	Fetal Intestine Large	intestine
13	chr11:4514000-4514200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr11:4514000-4514200	Enhancers	Brain Hippocampus Middle	brain
15	chr11:4514000-4514400	Enhancers	GM12878-XiMat	blood
16	chr11:4514000-4514600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:4514000-4514600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:4514000-4514600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr11:4514000-4514600	Enhancers	Placenta	Placenta
20	chr11:4514000-4514600	Enhancers	Ovary	ovary
21	chr11:4514200-4514400	Enhancers	Fetal Heart	heart
22	chr11:4514200-4514400	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr11:4514200-4514600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:4514200-4514600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr11:4514200-4514600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr11:4514200-4514600	Enhancers	Adipose Nuclei	Adipose
27	chr11:4514200-4514600	Flanking Active TSS	Liver	Liver
28	chr11:4514200-4514600	Active TSS	Brain Cingulate Gyrus	brain
29	chr11:4514200-4514600	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr11:4514200-4514600	Flanking Active TSS	Fetal Intestine Large	intestine
31	chr11:4514200-4514600	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr11:4514200-4514600	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr11:4514200-4514600	Active TSS	A549	lung
34	chr11:4514200-4514600	Enhancers	HUVEC	blood vessel
35	chr11:4514200-4514600	Enhancers	K562	blood
36	chr11:4514200-4514600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr11:4514400-4514600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:4514400-4514600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr11:4514400-4514600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:4514400-4514600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:4514400-4514600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr11:4514400-4514600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr11:4514400-4514600	Flanking Active TSS	GM12878-XiMat	blood
44	chr11:4514400-4514600	Flanking Active TSS	NHDF-Ad	bronchial
45	chr11:4514400-4514600	Enhancers	NHLF	lung
46	chr11:4514400-4516400	Weak transcription	Fetal Heart	heart
47	chr11:4514600-4517000	Weak transcription	Placenta	Placenta
48	chr11:4514600-4517400	Weak transcription	Ovary	ovary
49	chr11:4514600-4517800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr11:4514600-4518000	Weak transcription	Liver	Liver

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