Variant report

Variant	esv3459905
Chromosome Location	chr2:185214246-185346055
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:444)
CpG islands
(count:0)
Chromatin interactive
region (count:36)
LncRNA
region (count:2)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:444 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:185234055-185234428	HepG2	liver:	n/a	n/a
2	ATF1	chr2:185338341-185338506	K562	blood:	n/a	n/a
3	ATF2	chr2:185308834-185309398	GM12878	blood:	n/a	n/a
4	ATF2	chr2:185308801-185309526	GM12878	blood:	n/a	n/a
5	BATF	chr2:185308921-185309210	GM12878	blood:	n/a	n/a
6	BATF	chr2:185290327-185290619	GM12878	blood:	n/a	n/a
7	BATF	chr2:185317747-185317965	GM12878	blood:	n/a	n/a
8	BATF	chr2:185317686-185318018	GM12878	blood:	n/a	chr2:185317694-185317703
9	BATF	chr2:185308924-185309328	GM12878	blood:	n/a	n/a
10	BCL11A	chr2:185308850-185309390	GM12878	blood:	n/a	n/a
11	BCL11A	chr2:185289883-185290123	GM12878	blood:	n/a	n/a
12	BCL11A	chr2:185308935-185309247	GM12878	blood:	n/a	n/a
13	BCL3	chr2:185308945-185309370	GM12878	blood:	n/a	n/a
14	BCLAF1	chr2:185308913-185309383	GM12878	blood:	n/a	n/a
15	BHLHE40	chr2:185251589-185251715	K562	blood:	n/a	n/a
16	BHLHE40	chr2:185317634-185318085	GM12878	blood:	n/a	n/a
17	BHLHE40	chr2:185227990-185228275	HepG2	liver:	n/a	n/a
18	BHLHE40	chr2:185289855-185290047	GM12878	blood:	n/a	n/a
19	BHLHE40	chr2:185308886-185309417	GM12878	blood:	n/a	n/a
20	BRCA1	chr2:185234005-185234016	HepG2	liver:	n/a	n/a
21	CBX3	chr2:185271763-185272041	K562	blood:	n/a	n/a
22	CEBPB	chr2:185234071-185234445	HepG2	liver:	n/a	chr2:185234227-185234240 chr2:185234228-185234239 chr2:185234227-185234240 chr2:185234205-185234216
23	CEBPB	chr2:185328388-185328654	H1-hESC	embryonic stem cell:	n/a	chr2:185328492-185328501 chr2:185328490-185328501
24	CEBPB	chr2:185328162-185328686	HepG2	liver:	n/a	chr2:185328492-185328501 chr2:185328490-185328501
25	CEBPB	chr2:185328320-185328665	K562	blood:	n/a	chr2:185328492-185328501 chr2:185328490-185328501
26	CEBPB	chr2:185225898-185226098	K562	blood:	n/a	n/a
27	CEBPB	chr2:185332852-185333581	IMR90	lung:	n/a	n/a
28	CEBPB	chr2:185289894-185290183	HepG2	liver:	n/a	chr2:185290037-185290048 chr2:185290036-185290049 chr2:185290053-185290070
29	CEBPB	chr2:185328337-185328685	A549	lung:	n/a	chr2:185328492-185328501 chr2:185328490-185328501
30	CEBPB	chr2:185332841-185333575	HepG2	liver:	n/a	n/a
31	CEBPB	chr2:185274251-185274354	K562	blood:	n/a	n/a
32	CEBPB	chr2:185220639-185220873	HepG2	liver:	n/a	n/a
33	CEBPB	chr2:185234153-185234367	HepG2	liver:	n/a	chr2:185234227-185234240 chr2:185234228-185234239 chr2:185234227-185234240 chr2:185234205-185234216
34	CEBPB	chr2:185251568-185251928	HepG2	liver:	n/a	chr2:185251752-185251763
35	CEBPB	chr2:185328271-185328742	MCF-7	breast:	n/a	chr2:185328492-185328501 chr2:185328490-185328501
36	CEBPB	chr2:185328390-185328569	HepG2	liver:	n/a	chr2:185328492-185328501 chr2:185328490-185328501
37	CEBPB	chr2:185251698-185251921	Hela-S3	cervix:	n/a	chr2:185251752-185251763
38	CEBPB	chr2:185328331-185328670	IMR90	lung:	n/a	chr2:185328492-185328501 chr2:185328490-185328501
39	CEBPB	chr2:185332869-185333518	A549	lung:	n/a	n/a
40	CEBPB	chr2:185302568-185302810	HepG2	liver:	n/a	chr2:185302693-185302704
41	CEBPB	chr2:185255484-185255530	HepG2	liver:	n/a	chr2:185255514-185255525
42	CEBPB	chr2:185284749-185284771	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr2:185251635-185251802	K562	blood:	n/a	chr2:185251752-185251763
44	CEBPB	chr2:185228101-185228119	K562	blood:	n/a	n/a
45	CEBPB	chr2:185332924-185333589	K562	blood:	n/a	n/a
46	CHD2	chr2:185289947-185289965	GM12878	blood:	n/a	n/a
47	CHD2	chr2:185308908-185309379	GM12878	blood:	n/a	n/a
48	CTCF	chr2:185228180-185228330	GM12872	blood:	n/a	n/a
49	CTCF	chr2:185228099-185228198	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr2:185227980-185228130	GM06990	blood:	n/a	n/a

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:185313038..185315392-chr2:185318156..185320285,2	K562	blood:
2	chr2:185299549..185301224-chr2:185314147..185316677,2	K562	blood:
3	chr2:185265120..185267657-chr2:185268029..185269760,2	K562	blood:
4	chr2:185295330..185297259-chr2:185298334..185299844,2	K562	blood:
5	chr2:185204369..185206130-chr2:185218623..185221505,2	K562	blood:
6	chr2:185299545..185302161-chr2:185314147..185317606,4	K562	blood:
7	chr2:185315694..185318075-chr2:185327155..185329634,2	K562	blood:
8	chr2:185320111..185322626-chr2:185324313..185327547,4	K562	blood:
9	chr2:185320111..185322626-chr2:185324313..185327547,4	K562	blood:
10	chr2:185318144..185319862-chr2:185320173..185322661,2	K562	blood:
11	chr2:185065862..185068679-chr2:185266062..185268642,2	K562	blood:
12	chr2:185201237..185203817-chr2:185332460..185335138,2	K562	blood:
13	chr2:185320111..185322063-chr2:185324941..185327547,2	K562	blood:
14	chr2:185326685..185328359-chr2:185333481..185335539,2	K562	blood:
15	chr2:185265120..185267657-chr2:185268029..185269760,2	K562	blood:
16	chr2:185326685..185328359-chr2:185333481..185335539,2	K562	blood:
17	chr2:185299545..185302161-chr2:185314147..185317606,4	K562	blood:
18	chr2:45032907..45033761-chr2:185301029..185301683,2	MCF-7	breast:
19	chr2:185103488..185105465-chr2:185244326..185245928,2	K562	blood:
20	chr2:185313038..185315392-chr2:185318156..185320285,2	K562	blood:
21	chr2:185226895..185229045-chr2:185330186..185332070,2	K562	blood:
22	chr2:185223918..185225918-chr2:185227977..185230621,2	K562	blood:
23	chr2:185230131..185232758-chr2:185233211..185235341,2	MCF-7	breast:
24	chr2:185330612..185332940-chr2:185333705..185335387,2	K562	blood:
25	chr2:185330612..185332940-chr2:185333705..185335387,2	K562	blood:
26	chr2:185320111..185322063-chr2:185324941..185327547,2	K562	blood:
27	chr2:185330574..185332940-chr2:185333705..185335607,3	K562	blood:
28	chr2:185230131..185232758-chr2:185233211..185235341,2	MCF-7	breast:
29	chr2:185318144..185319862-chr2:185320173..185322661,2	K562	blood:
30	chr2:185299549..185301224-chr2:185314147..185316677,2	K562	blood:
31	chr2:185330574..185332940-chr2:185333705..185335607,3	K562	blood:
32	chr2:185295330..185297259-chr2:185298334..185299844,2	K562	blood:
33	chr2:185226895..185229045-chr2:185330186..185332070,2	K562	blood:
34	chr2:185267016..185267836-chr3:27870668..27871485,2	MCF-7	breast:
35	chr2:185315694..185318075-chr2:185327155..185329634,2	K562	blood:
36	chr2:185223918..185225918-chr2:185227977..185230621,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF804A-3	chr2:185246875-185247280	NONHSAT075951
2	lnc-ZNF804A-3	chr2:185244856-185245013	NONHSAT075951

miRNA name	Chromosome Location	mirBase accession
hsa-miR-548ae	chr2:185243744-185243764	MIMAT0018954

No data

Variant related genes	Relation type
MIR548AE1	TF binding region

Extended variants
information (count: 1201 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1201 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61196908	chr2:185233001-185233002	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74846548	chr2:185233044-185233045	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs551899694	chr2:185233058-185233059	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs185480163	chr2:185233059-185233060	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs527902273	chr2:185233090-185233091	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs549670330	chr2:185233123-185233124	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs551840891	chr2:185233129-185233130	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs144891530	chr2:185233145-185233146	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs529679366	chr2:185233150-185233151	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs13387150	chr2:185233191-185233192	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs550293963	chr2:185233203-185233204	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs202128573	chr2:185233244-185233245	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs374765371	chr2:185233246-185233247	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs568879511	chr2:185233258-185233259	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs539112620	chr2:185233316-185233317	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs149070000	chr2:185233324-185233325	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs188345863	chr2:185233337-185233338	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs372468142	chr2:185233422-185233423	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs114441508	chr2:185233436-185233437	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs566473376	chr2:185233451-185233452	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs142118520	chr2:185233492-185233493	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs544535901	chr2:185233514-185233515	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs556282553	chr2:185233519-185233520	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs577973664	chr2:185233539-185233540	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs151156826	chr2:185233600-185233601	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs560588599	chr2:185233610-185233611	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs533973866	chr2:185233657-185233658	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs538756567	chr2:185233670-185233671	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs559218919	chr2:185233672-185233673	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs140353481	chr2:185233687-185233688	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs576980604	chr2:185233702-185233703	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs180814021	chr2:185233723-185233724	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs145417300	chr2:185233738-185233739	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs558487613	chr2:185233760-185233761	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs185513781	chr2:185233769-185233770	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs188366885	chr2:185233774-185233775	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs550451508	chr2:185233817-185233818	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs568717359	chr2:185233873-185233874	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs570730701	chr2:185233890-185233891	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs138157799	chr2:185233901-185233902	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs551163533	chr2:185233930-185233931	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs566210667	chr2:185233966-185233967	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs533677941	chr2:185234034-185234035	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs555133090	chr2:185234036-185234037	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs78346013	chr2:185234044-185234045	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs114158182	chr2:185234067-185234068	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs556435543	chr2:185234077-185234078	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs7349369	chr2:185234102-185234103	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs370193434	chr2:185234148-185234149	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs372892894	chr2:185234173-185234174	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Psychiatric disorder	20548289	CNVD
Psychosis	20048749	CNVD
Rectal cancer	20877625	CNVD
Schizophrenia	20548289	CNVD
anxiety disorder	20548289	CNVD
Autism	20548289	CNVD
Bipolar disorder	20548289	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185233000-185233800	Active TSS	Liver	Liver
2	chr2:185233600-185234200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:185233800-185234200	Flanking Active TSS	Liver	Liver
4	chr2:185234200-185234800	Active TSS	Liver	Liver
5	chr2:185234800-185235200	Weak transcription	Liver	Liver
6	chr2:185235200-185235800	ZNF genes & repeats	Liver	Liver
7	chr2:185235800-185236200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:185235800-185237200	Enhancers	Primary B cells from peripheral blood	blood
9	chr2:185236200-185236600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:185236200-185237200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:185236200-185237800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:185236400-185237200	Enhancers	Fetal Stomach	stomach
13	chr2:185236600-185237200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:185236600-185237600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:185236600-185238200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:185236800-185237400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr2:185236800-185237400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:185236800-185237600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:185236800-185237600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:185236800-185237600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:185236800-185237600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:185236800-185238200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:185237000-185237600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:185237200-185237600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr2:185251600-185252200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:185259400-185260000	Enhancers	Liver	Liver
27	chr2:185270400-185270800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:185284200-185284600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr2:185284600-185285000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:185284600-185285200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr2:185288600-185289600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:185288800-185289200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr2:185289200-185289400	Enhancers	Adipose Nuclei	Adipose
34	chr2:185289400-185290000	Weak transcription	Adipose Nuclei	Adipose
35	chr2:185289600-185290000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:185290000-185290800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:185290000-185290800	Enhancers	Adipose Nuclei	Adipose
38	chr2:185295800-185296600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr2:185306000-185306200	Enhancers	GM12878-XiMat	blood
40	chr2:185306400-185307600	Weak transcription	GM12878-XiMat	blood
41	chr2:185307600-185308200	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr2:185307600-185308400	Enhancers	GM12878-XiMat	blood
43	chr2:185308200-185308600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr2:185308400-185308800	Flanking Active TSS	GM12878-XiMat	blood
45	chr2:185308600-185309000	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr2:185308800-185309400	Active TSS	GM12878-XiMat	blood
47	chr2:185309000-185309400	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr2:185309400-185309800	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr2:185309400-185309800	Flanking Active TSS	GM12878-XiMat	blood
50	chr2:185309800-185310400	Enhancers	GM12878-XiMat	blood

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