Variant report

Variant	esv2763031
Chromosome Location	chr2:185188572-185320059
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:475)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:2)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:475 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

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	ATF2	chr2:185308801-185309526	GM12878	blood:	n/a	n/a
3	ATF2	chr2:185308834-185309398	GM12878	blood:	n/a	n/a
4	BATF	chr2:185317747-185317965	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	chr2:185317686-185318018	GM12878	blood:	n/a	chr2:185317694-185317703
8	BATF	chr2:185308924-185309328	GM12878	blood:	n/a	n/a
9	BCL11A	chr2:185308935-185309247	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	BCL3	chr2:185308945-185309370	GM12878	blood:	n/a	n/a
13	BCLAF1	chr2:185308913-185309383	GM12878	blood:	n/a	n/a
14	BHLHE40	chr2:185289855-185290047	GM12878	blood:	n/a	n/a
15	BHLHE40	chr2:185251589-185251715	K562	blood:	n/a	n/a
16	BHLHE40	chr2:185308886-185309417	GM12878	blood:	n/a	n/a
17	BHLHE40	chr2:185227990-185228275	HepG2	liver:	n/a	n/a
18	BHLHE40	chr2:185317634-185318085	GM12878	blood:	n/a	n/a
19	BRCA1	chr2:185234005-185234016	HepG2	liver:	n/a	n/a
20	CBX3	chr2:185271763-185272041	K562	blood:	n/a	n/a
21	CEBPB	chr2:185255484-185255530	HepG2	liver:	n/a	chr2:185255514-185255525
22	CEBPB	chr2:185225898-185226098	K562	blood:	n/a	n/a
23	CEBPB	chr2:185251698-185251921	Hela-S3	cervix:	n/a	chr2:185251752-185251763
24	CEBPB	chr2:185274251-185274354	K562	blood:	n/a	n/a
25	CEBPB	chr2:185234071-185234445	HepG2	liver:	n/a	chr2:185234227-185234240 chr2:185234228-185234239 chr2:185234227-185234240 chr2:185234205-185234216
26	CEBPB	chr2:185207055-185207352	Hela-S3	cervix:	n/a	chr2:185207173-185207184 chr2:185207208-185207219 chr2:185207173-185207182
27	CEBPB	chr2:185189157-185189474	HepG2	liver:	n/a	chr2:185189324-185189335 chr2:185189302-185189313
28	CEBPB	chr2:185207011-185207394	HepG2	liver:	n/a	chr2:185207173-185207184 chr2:185207208-185207219 chr2:185207173-185207182
29	CEBPB	chr2:185207047-185207335	A549	lung:	n/a	chr2:185207173-185207184 chr2:185207208-185207219 chr2:185207173-185207182
30	CEBPB	chr2:185228101-185228119	K562	blood:	n/a	n/a
31	CEBPB	chr2:185289894-185290183	HepG2	liver:	n/a	chr2:185290037-185290048 chr2:185290036-185290049 chr2:185290053-185290070
32	CEBPB	chr2:185302568-185302810	HepG2	liver:	n/a	chr2:185302693-185302704
33	CEBPB	chr2:185234153-185234367	HepG2	liver:	n/a	chr2:185234227-185234240 chr2:185234228-185234239 chr2:185234227-185234240 chr2:185234205-185234216
34	CEBPB	chr2:185220639-185220873	HepG2	liver:	n/a	n/a
35	CEBPB	chr2:185251635-185251802	K562	blood:	n/a	chr2:185251752-185251763
36	CEBPB	chr2:185251568-185251928	HepG2	liver:	n/a	chr2:185251752-185251763
37	CEBPB	chr2:185284749-185284771	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr2:185289947-185289965	GM12878	blood:	n/a	n/a
39	CHD2	chr2:185308908-185309379	GM12878	blood:	n/a	n/a
40	CTCF	chr2:185228013-185228274	MCF-7	breast:	n/a	n/a
41	CTCF	chr2:185228086-185228183	NHEK	skin:	n/a	n/a
42	CTCF	chr2:185264221-185264400	GM12878	blood:	n/a	n/a
43	CTCF	chr2:185228051-185228206	K562	blood:	n/a	n/a
44	CTCF	chr2:185228080-185228230	GM12874	blood:	n/a	n/a
45	CTCF	chr2:185228100-185228139	GM13977	blood:	n/a	n/a
46	CTCF	chr2:185223660-185223810	HepG2	liver:	n/a	n/a
47	CTCF	chr2:185228040-185228190	GM12869	blood:	n/a	n/a
48	CTCF	chr2:185228051-185228227	HepG2	liver:	n/a	n/a
49	CTCF	chr2:185228060-185228210	GM12873	blood:	n/a	n/a
50	CTCF	chr2:185228080-185228230	NB4	blood:	n/a	n/a

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:185295330..185297259-chr2:185298334..185299844,2	K562	blood:
2	chr2:185318144..185319862-chr2:185320173..185322661,2	K562	blood:
3	chr2:185267016..185267836-chr3:27870668..27871485,2	MCF-7	breast:
4	chr2:185204369..185206130-chr2:185218623..185221505,2	K562	blood:
5	chr2:185201237..185203817-chr2:185332460..185335138,2	K562	blood:
6	chr2:185208077..185209998-chr2:185211977..185213608,2	K562	blood:
7	chr2:185265120..185267657-chr2:185268029..185269760,2	K562	blood:
8	chr2:185299545..185302161-chr2:185314147..185317606,4	K562	blood:
9	chr2:185299545..185302161-chr2:185314147..185317606,4	K562	blood:
10	chr2:185265120..185267657-chr2:185268029..185269760,2	K562	blood:
11	chr2:185208077..185209998-chr2:185211977..185213608,2	K562	blood:
12	chr2:185226895..185229045-chr2:185330186..185332070,2	K562	blood:
13	chr2:185295330..185297259-chr2:185298334..185299844,2	K562	blood:
14	chr2:185160917..185163331-chr2:185190953..185193318,2	K562	blood:
15	chr2:185103488..185105465-chr2:185244326..185245928,2	K562	blood:
16	chr2:185299549..185301224-chr2:185314147..185316677,2	K562	blood:
17	chr2:45032907..45033761-chr2:185301029..185301683,2	MCF-7	breast:
18	chr2:185315694..185318075-chr2:185327155..185329634,2	K562	blood:
19	chr2:185066479..185068495-chr2:185209496..185211402,2	K562	blood:
20	chr2:185223918..185225918-chr2:185227977..185230621,2	K562	blood:
21	chr2:185230131..185232758-chr2:185233211..185235341,2	MCF-7	breast:
22	chr2:185204369..185206130-chr2:185218623..185221505,2	K562	blood:
23	chr2:185313038..185315392-chr2:185318156..185320285,2	K562	blood:
24	chr2:185223918..185225918-chr2:185227977..185230621,2	K562	blood:
25	chr2:185230131..185232758-chr2:185233211..185235341,2	MCF-7	breast:
26	chr2:185299549..185301224-chr2:185314147..185316677,2	K562	blood:
27	chr2:185065862..185068679-chr2:185266062..185268642,2	K562	blood:
28	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	chr2:185244856-185245013	NONHSAT075951
2	lnc-ZNF804A-3	chr2:185246875-185247280	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: 1456 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1456 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10183564	chr2:185188572-185188573	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10173537	chr2:185188590-185188591	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs12470720	chr2:185188599-185188600	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556205503	chr2:185188687-185188688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189486384	chr2:185188727-185188728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538568083	chr2:185188770-185188771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576915068	chr2:185188815-185188816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553718625	chr2:185188863-185188864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1982506	chr2:185188871-185188872	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs201027709	chr2:185188891-185188892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542643377	chr2:185188933-185188934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138768071	chr2:185188946-185188947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576468102	chr2:185188959-185188960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566366229	chr2:185188967-185188968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140377919	chr2:185189001-185189002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565357552	chr2:185189011-185189012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs60682486	chr2:185189017-185189018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17582956	chr2:185189018-185189019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs397715106	chr2:185189028-185189029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370297708	chr2:185189029-185189030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556341696	chr2:185189064-185189065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7421572	chr2:185189068-185189069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574618999	chr2:185189088-185189089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138140465	chr2:185189104-185189105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76486868	chr2:185189112-185189113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527274105	chr2:185189127-185189128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548745067	chr2:185189177-185189178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9989770	chr2:185189181-185189182	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531309876	chr2:185189195-185189196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149551883	chr2:185189205-185189206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560480675	chr2:185189269-185189270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147272567	chr2:185189286-185189287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367815695	chr2:185189295-185189296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538483342	chr2:185189319-185189320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139110276	chr2:185189338-185189339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565686511	chr2:185189342-185189343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536203810	chr2:185189363-185189364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143226995	chr2:185189386-185189387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147506773	chr2:185189405-185189406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537162031	chr2:185189451-185189452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559043673	chr2:185189465-185189466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374640340	chr2:185189524-185189525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577491716	chr2:185189622-185189623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541690851	chr2:185189633-185189634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527676632	chr2:185189691-185189692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs151235602	chr2:185189696-185189697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200420573	chr2:185189698-185189699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12989252	chr2:185189699-185189700	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs72904822	chr2:185189715-185189716	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs11894883	chr2:185189716-185189717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185188400-185188600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:185188400-185189000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:185188400-185190800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:185188600-185189200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:185189200-185190400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:185189400-185189600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:185189600-185190000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:185189600-185190800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:185190400-185191000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:185190800-185191800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:185191000-185191200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:185200000-185200600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:185200600-185201600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:185201400-185201800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
15	chr2:185201600-185201800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:185201600-185202000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
17	chr2:185201600-185202000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:185201600-185203800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
19	chr2:185202000-185204000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:185202200-185202600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
21	chr2:185202600-185203000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
22	chr2:185202800-185203000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:185203000-185204000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:185203000-185204400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
25	chr2:185203200-185203400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr2:185203200-185203400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
27	chr2:185203200-185203800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:185203200-185204200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
29	chr2:185203200-185204600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
30	chr2:185203400-185203600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
31	chr2:185203400-185203600	Enhancers	Fetal Kidney	kidney
32	chr2:185203800-185204000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
33	chr2:185203800-185204000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
34	chr2:185203800-185204200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
35	chr2:185204000-185205400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr2:185204200-185204400	Enhancers	Fetal Kidney	kidney
37	chr2:185204200-185204600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
38	chr2:185204200-185205400	Enhancers	HUVEC	blood vessel
39	chr2:185204400-185204800	Enhancers	NH-A	brain
40	chr2:185204800-185205200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
41	chr2:185204800-185205200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
42	chr2:185205400-185210600	Weak transcription	HUVEC	blood vessel
43	chr2:185207000-185207400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
44	chr2:185207000-185207400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
45	chr2:185207000-185207400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
46	chr2:185207000-185207400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
47	chr2:185207000-185207600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
48	chr2:185207000-185207600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:185207000-185208000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:185207200-185207400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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