Variant report

Variant	esv3693448
Chromosome Location	chr2:185242856-185333717
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:291)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:2)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr2:185308834-185309398	GM12878	blood:	n/a	n/a
2	ATF2	chr2:185308801-185309526	GM12878	blood:	n/a	n/a
3	BATF	chr2:185308921-185309210	GM12878	blood:	n/a	n/a
4	BATF	chr2:185290327-185290619	GM12878	blood:	n/a	n/a
5	BATF	chr2:185317686-185318018	GM12878	blood:	n/a	chr2:185317694-185317703
6	BATF	chr2:185317747-185317965	GM12878	blood:	n/a	n/a
7	BATF	chr2:185308924-185309328	GM12878	blood:	n/a	n/a
8	BCL11A	chr2:185308935-185309247	GM12878	blood:	n/a	n/a
9	BCL11A	chr2:185308850-185309390	GM12878	blood:	n/a	n/a
10	BCL11A	chr2:185289883-185290123	GM12878	blood:	n/a	n/a
11	BCL3	chr2:185308945-185309370	GM12878	blood:	n/a	n/a
12	BCLAF1	chr2:185308913-185309383	GM12878	blood:	n/a	n/a
13	BHLHE40	chr2:185289855-185290047	GM12878	blood:	n/a	n/a
14	BHLHE40	chr2:185251589-185251715	K562	blood:	n/a	n/a
15	BHLHE40	chr2:185317634-185318085	GM12878	blood:	n/a	n/a
16	BHLHE40	chr2:185308886-185309417	GM12878	blood:	n/a	n/a
17	CBX3	chr2:185271763-185272041	K562	blood:	n/a	n/a
18	CEBPB	chr2:185332869-185333518	A549	lung:	n/a	n/a
19	CEBPB	chr2:185251635-185251802	K562	blood:	n/a	chr2:185251752-185251763
20	CEBPB	chr2:185328331-185328670	IMR90	lung:	n/a	chr2:185328492-185328501 chr2:185328490-185328501
21	CEBPB	chr2:185302568-185302810	HepG2	liver:	n/a	chr2:185302693-185302704
22	CEBPB	chr2:185251698-185251921	Hela-S3	cervix:	n/a	chr2:185251752-185251763
23	CEBPB	chr2:185332841-185333575	HepG2	liver:	n/a	n/a
24	CEBPB	chr2:185255484-185255530	HepG2	liver:	n/a	chr2:185255514-185255525
25	CEBPB	chr2:185328388-185328654	H1-hESC	embryonic stem cell:	n/a	chr2:185328492-185328501 chr2:185328490-185328501
26	CEBPB	chr2:185328337-185328685	A549	lung:	n/a	chr2:185328492-185328501 chr2:185328490-185328501
27	CEBPB	chr2:185328162-185328686	HepG2	liver:	n/a	chr2:185328492-185328501 chr2:185328490-185328501
28	CEBPB	chr2:185332852-185333581	IMR90	lung:	n/a	n/a
29	CEBPB	chr2:185284749-185284771	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr2:185328320-185328665	K562	blood:	n/a	chr2:185328492-185328501 chr2:185328490-185328501
31	CEBPB	chr2:185289894-185290183	HepG2	liver:	n/a	chr2:185290037-185290048 chr2:185290036-185290049 chr2:185290053-185290070
32	CEBPB	chr2:185274251-185274354	K562	blood:	n/a	n/a
33	CEBPB	chr2:185328390-185328569	HepG2	liver:	n/a	chr2:185328492-185328501 chr2:185328490-185328501
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	chr2:185332924-185333589	K562	blood:	n/a	n/a
37	CHD2	chr2:185289947-185289965	GM12878	blood:	n/a	n/a
38	CHD2	chr2:185308908-185309379	GM12878	blood:	n/a	n/a
39	CTCF	chr2:185264290-185264447	K562	blood:	n/a	n/a
40	CTCF	chr2:185330600-185330750	BE2_C	brain:	n/a	n/a
41	CTCF	chr2:185264221-185264400	GM12878	blood:	n/a	n/a
42	CTCF	chr2:185264326-185264371	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr2:185264260-185264410	HRPEpiC	eye:	n/a	n/a
44	CTCF	chr2:185264260-185264410	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chr2:185324780-185324839	GM20000	blood:	n/a	n/a
46	CTCF	chr2:185304640-185304790	AG09309	skin:	n/a	n/a
47	CTCF	chr2:185330560-185330710	HCT-116	colon:	n/a	n/a
48	CTCF	chr2:185258955-185259023	MCF-7	breast:	n/a	n/a
49	CTCF	chr2:185264107-185264466	HCT-116	colon:	n/a	n/a
50	CUX1	chr2:185299883-185300034	GM12878	blood:	n/a	chr2:185300022-185300031

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:185295330..185297259-chr2:185298334..185299844,2	K562	blood:
2	chr2:185299549..185301224-chr2:185314147..185316677,2	K562	blood:
3	chr2:185320111..185322063-chr2:185324941..185327547,2	K562	blood:
4	chr2:45032907..45033761-chr2:185301029..185301683,2	MCF-7	breast:
5	chr2:185265120..185267657-chr2:185268029..185269760,2	K562	blood:
6	chr2:185313038..185315392-chr2:185318156..185320285,2	K562	blood:
7	chr2:185320111..185322626-chr2:185324313..185327547,4	K562	blood:
8	chr2:185065862..185068679-chr2:185266062..185268642,2	K562	blood:
9	chr2:185330574..185332940-chr2:185333705..185335607,3	K562	blood:
10	chr2:185103488..185105465-chr2:185244326..185245928,2	K562	blood:
11	chr2:185299545..185302161-chr2:185314147..185317606,4	K562	blood:
12	chr2:185320111..185322626-chr2:185324313..185327547,4	K562	blood:
13	chr2:185315694..185318075-chr2:185327155..185329634,2	K562	blood:
14	chr2:185299549..185301224-chr2:185314147..185316677,2	K562	blood:
15	chr2:185326685..185328359-chr2:185333481..185335539,2	K562	blood:
16	chr2:185318144..185319862-chr2:185320173..185322661,2	K562	blood:
17	chr2:185267016..185267836-chr3:27870668..27871485,2	MCF-7	breast:
18	chr2:185201237..185203817-chr2:185332460..185335138,2	K562	blood:
19	chr2:185318144..185319862-chr2:185320173..185322661,2	K562	blood:
20	chr2:185299545..185302161-chr2:185314147..185317606,4	K562	blood:
21	chr2:185330612..185332940-chr2:185333705..185335387,2	K562	blood:
22	chr2:185320111..185322063-chr2:185324941..185327547,2	K562	blood:
23	chr2:185330574..185332940-chr2:185333705..185335607,3	K562	blood:
24	chr2:185326685..185328359-chr2:185333481..185335539,2	K562	blood:
25	chr2:185330612..185332940-chr2:185333705..185335387,2	K562	blood:
26	chr2:185315694..185318075-chr2:185327155..185329634,2	K562	blood:
27	chr2:185226895..185229045-chr2:185330186..185332070,2	K562	blood:
28	chr2:185295330..185297259-chr2:185298334..185299844,2	K562	blood:
29	chr2:185265120..185267657-chr2:185268029..185269760,2	K562	blood:
30	chr2:185313038..185315392-chr2:185318156..185320285,2	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: 893 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:893 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182725847	chr2:185243065-185243066	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs374509700	chr2:185243098-185243099	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs187847057	chr2:185243131-185243132	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs138416105	chr2:185243132-185243133	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs537227372	chr2:185243157-185243158	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs192361225	chr2:185243173-185243174	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs577114730	chr2:185243188-185243189	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs576393068	chr2:185243505-185243506	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs73035493	chr2:185243509-185243510	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs547721690	chr2:185243525-185243526	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs566031589	chr2:185243527-185243528	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs555888607	chr2:185243537-185243538	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs376082871	chr2:185243564-185243565	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs192303110	chr2:185243570-185243571	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs548592507	chr2:185243588-185243589	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs570037089	chr2:185243648-185243649	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs139251966	chr2:185244889-185244890	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs149390917	chr2:185244995-185244996	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs530830981	chr2:185245000-185245001	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs552179828	chr2:185245003-185245004	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs73035497	chr2:185246887-185246888	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs528113469	chr2:185246891-185246892	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs546311419	chr2:185246913-185246914	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs568135007	chr2:185246924-185246925	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs535242257	chr2:185246932-185246933	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs73035500	chr2:185247017-185247018	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs182943234	chr2:185247056-185247057	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs539313281	chr2:185247075-185247076	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs557653019	chr2:185247078-185247079	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs573081936	chr2:185247125-185247126	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs531710970	chr2:185247175-185247176	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs549374715	chr2:185247205-185247206	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs36012782	chr2:185247257-185247258	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs35492302	chr2:185251639-185251640	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs35515524	chr2:185251641-185251642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552353464	chr2:185251645-185251646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368031056	chr2:185251674-185251675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571031986	chr2:185251704-185251705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528743345	chr2:185251722-185251723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370580686	chr2:185251724-185251725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547292123	chr2:185251742-185251743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35943580	chr2:185251751-185251752	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs536236412	chr2:185251761-185251762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554645346	chr2:185251763-185251764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1596270	chr2:185251767-185251768	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs537146703	chr2:185251778-185251779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558744730	chr2:185251793-185251794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576983446	chr2:185251806-185251807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540940199	chr2:185251820-185251821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1596271	chr2:185251841-185251842	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

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

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185251600-185252200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr2:185259400-185260000	Enhancers	Liver	Liver
3	chr2:185270400-185270800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:185284200-185284600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:185284600-185285000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:185284600-185285200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:185288600-185289600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:185288800-185289200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:185289200-185289400	Enhancers	Adipose Nuclei	Adipose
10	chr2:185289400-185290000	Weak transcription	Adipose Nuclei	Adipose
11	chr2:185289600-185290000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:185290000-185290800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:185290000-185290800	Enhancers	Adipose Nuclei	Adipose
14	chr2:185295800-185296600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:185306000-185306200	Enhancers	GM12878-XiMat	blood
16	chr2:185306400-185307600	Weak transcription	GM12878-XiMat	blood
17	chr2:185307600-185308200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr2:185307600-185308400	Enhancers	GM12878-XiMat	blood
19	chr2:185308200-185308600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:185308400-185308800	Flanking Active TSS	GM12878-XiMat	blood
21	chr2:185308600-185309000	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr2:185308800-185309400	Active TSS	GM12878-XiMat	blood
23	chr2:185309000-185309400	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr2:185309400-185309800	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr2:185309400-185309800	Flanking Active TSS	GM12878-XiMat	blood
26	chr2:185309800-185310400	Enhancers	GM12878-XiMat	blood
27	chr2:185310400-185315800	Weak transcription	GM12878-XiMat	blood
28	chr2:185315800-185317800	Enhancers	GM12878-XiMat	blood
29	chr2:185317800-185318200	Flanking Active TSS	GM12878-XiMat	blood
30	chr2:185325200-185325800	Enhancers	K562	blood
31	chr2:185325800-185326000	Weak transcription	K562	blood
32	chr2:185326000-185327000	Active TSS	K562	blood
33	chr2:185326600-185326800	Enhancers	Fetal Intestine Small	intestine
34	chr2:185326600-185327600	Enhancers	Fetal Intestine Large	intestine
35	chr2:185326800-185327400	Weak transcription	Fetal Intestine Small	intestine
36	chr2:185326800-185327600	Enhancers	Liver	Liver
37	chr2:185327000-185327800	Enhancers	Duodenum Mucosa	Duodenum
38	chr2:185327400-185327800	Enhancers	Fetal Intestine Small	intestine
39	chr2:185327600-185328200	Flanking Active TSS	Fetal Intestine Large	intestine
40	chr2:185327600-185328400	Flanking Active TSS	Liver	Liver
41	chr2:185327600-185328800	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr2:185327800-185328200	Active TSS	Duodenum Mucosa	Duodenum
43	chr2:185327800-185328200	Flanking Active TSS	Fetal Intestine Small	intestine
44	chr2:185327800-185328400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:185327800-185328400	Enhancers	HepG2	liver
46	chr2:185328000-185328600	Enhancers	Pancreas	Pancrea
47	chr2:185328200-185328400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr2:185328200-185328400	Enhancers	Fetal Intestine Large	intestine
49	chr2:185328200-185331200	Weak transcription	Fetal Intestine Small	intestine
50	chr2:185328400-185328800	Weak transcription	Fetal Intestine Large	intestine

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