Variant report

Variant	nsv875498
Chromosome Location	chr2:185210610-185326251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:411)
CpG islands
(count:0)
Chromatin interactive
region (count:29)
LncRNA
region (count:2)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:411 , 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	ATF2	chr2:185308801-185309526	GM12878	blood:	n/a	n/a
3	ATF2	chr2:185308834-185309398	GM12878	blood:	n/a	n/a
4	BATF	chr2:185308924-185309328	GM12878	blood:	n/a	n/a
5	BATF	chr2:185317686-185318018	GM12878	blood:	n/a	chr2:185317694-185317703
6	BATF	chr2:185308921-185309210	GM12878	blood:	n/a	n/a
7	BATF	chr2:185317747-185317965	GM12878	blood:	n/a	n/a
8	BATF	chr2:185290327-185290619	GM12878	blood:	n/a	n/a
9	BCL11A	chr2:185308850-185309390	GM12878	blood:	n/a	n/a
10	BCL11A	chr2:185308935-185309247	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	chr2:185227990-185228275	HepG2	liver:	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	BHLHE40	chr2:185251589-185251715	K562	blood:	n/a	n/a
18	BHLHE40	chr2:185289855-185290047	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	chr2:185234153-185234367	HepG2	liver:	n/a	chr2:185234227-185234240 chr2:185234228-185234239 chr2:185234227-185234240 chr2:185234205-185234216
22	CEBPB	chr2:185234071-185234445	HepG2	liver:	n/a	chr2:185234227-185234240 chr2:185234228-185234239 chr2:185234227-185234240 chr2:185234205-185234216
23	CEBPB	chr2:185251635-185251802	K562	blood:	n/a	chr2:185251752-185251763
24	CEBPB	chr2:185220639-185220873	HepG2	liver:	n/a	n/a
25	CEBPB	chr2:185228101-185228119	K562	blood:	n/a	n/a
26	CEBPB	chr2:185274251-185274354	K562	blood:	n/a	n/a
27	CEBPB	chr2:185225898-185226098	K562	blood:	n/a	n/a
28	CEBPB	chr2:185255484-185255530	HepG2	liver:	n/a	chr2:185255514-185255525
29	CEBPB	chr2:185251568-185251928	HepG2	liver:	n/a	chr2:185251752-185251763
30	CEBPB	chr2:185284749-185284771	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr2:185251698-185251921	Hela-S3	cervix:	n/a	chr2:185251752-185251763
32	CEBPB	chr2:185302568-185302810	HepG2	liver:	n/a	chr2:185302693-185302704
33	CEBPB	chr2:185289894-185290183	HepG2	liver:	n/a	chr2:185290037-185290048 chr2:185290036-185290049 chr2:185290053-185290070
34	CHD2	chr2:185289947-185289965	GM12878	blood:	n/a	n/a
35	CHD2	chr2:185308908-185309379	GM12878	blood:	n/a	n/a
36	CTCF	chr2:185228040-185228190	GM12873	blood:	n/a	n/a
37	CTCF	chr2:185228034-185228217	MCF-7	breast:	n/a	n/a
38	CTCF	chr2:185227881-185228277	MCF-7	breast:	n/a	n/a
39	CTCF	chr2:185228020-185228170	GM12872	blood:	n/a	n/a
40	CTCF	chr2:185304640-185304790	AG09309	skin:	n/a	n/a
41	CTCF	chr2:185228120-185228270	A549	lung:	n/a	n/a
42	CTCF	chr2:185228020-185228170	HEK293	kidney:	n/a	n/a
43	CTCF	chr2:185228040-185228190	GM12869	blood:	n/a	n/a
44	CTCF	chr2:185228058-185228205	GM19238	blood:	n/a	n/a
45	CTCF	chr2:185228080-185228230	MCF-7	breast:	n/a	n/a
46	CTCF	chr2:185228086-185228183	NHEK	skin:	n/a	n/a
47	CTCF	chr2:185228067-185228153	LNCaP	prostate:	n/a	n/a
48	CTCF	chr2:185228120-185228270	GM12875	blood:	n/a	n/a
49	CTCF	chr2:185264107-185264466	HCT-116	colon:	n/a	n/a
50	CTCF	chr2:185228033-185228249	GM12878	blood:	n/a	n/a

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:185320111..185322626-chr2:185324313..185327547,4	K562	blood:
2	chr2:185299545..185302161-chr2:185314147..185317606,4	K562	blood:
3	chr2:185204369..185206130-chr2:185218623..185221505,2	K562	blood:
4	chr2:185265120..185267657-chr2:185268029..185269760,2	K562	blood:
5	chr2:185315694..185318075-chr2:185327155..185329634,2	K562	blood:
6	chr2:185223918..185225918-chr2:185227977..185230621,2	K562	blood:
7	chr2:185265120..185267657-chr2:185268029..185269760,2	K562	blood:
8	chr2:185313038..185315392-chr2:185318156..185320285,2	K562	blood:
9	chr2:185318144..185319862-chr2:185320173..185322661,2	K562	blood:
10	chr2:185223918..185225918-chr2:185227977..185230621,2	K562	blood:
11	chr2:185065862..185068679-chr2:185266062..185268642,2	K562	blood:
12	chr2:185295330..185297259-chr2:185298334..185299844,2	K562	blood:
13	chr2:185318144..185319862-chr2:185320173..185322661,2	K562	blood:
14	chr2:45032907..45033761-chr2:185301029..185301683,2	MCF-7	breast:
15	chr2:185299545..185302161-chr2:185314147..185317606,4	K562	blood:
16	chr2:185066479..185068495-chr2:185209496..185211402,2	K562	blood:
17	chr2:185320111..185322626-chr2:185324313..185327547,4	K562	blood:
18	chr2:185103488..185105465-chr2:185244326..185245928,2	K562	blood:
19	chr2:185313038..185315392-chr2:185318156..185320285,2	K562	blood:
20	chr2:185208077..185209998-chr2:185211977..185213608,2	K562	blood:
21	chr2:185295330..185297259-chr2:185298334..185299844,2	K562	blood:
22	chr2:185299549..185301224-chr2:185314147..185316677,2	K562	blood:
23	chr2:185299549..185301224-chr2:185314147..185316677,2	K562	blood:
24	chr2:185226895..185229045-chr2:185330186..185332070,2	K562	blood:
25	chr2:185267016..185267836-chr3:27870668..27871485,2	MCF-7	breast:
26	chr2:185320111..185322063-chr2:185324941..185327547,2	K562	blood:
27	chr2:185230131..185232758-chr2:185233211..185235341,2	MCF-7	breast:
28	chr2:185320111..185322063-chr2:185324941..185327547,2	K562	blood:
29	chr2:185230131..185232758-chr2:185233211..185235341,2	MCF-7	breast:

(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: 952 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:952 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12328731	chr2:185210610-185210611	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535823230	chr2:185210614-185210615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534909118	chr2:185210615-185210616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs59941344	chr2:185210634-185210635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147401405	chr2:185210656-185210657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574838671	chr2:185210666-185210667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567864975	chr2:185210721-185210722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1455887	chr2:185210745-185210746	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs139799299	chr2:185210773-185210774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189251546	chr2:185210782-185210783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533907107	chr2:185210799-185210800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181644376	chr2:185210902-185210903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76228289	chr2:185210913-185210914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149957101	chr2:185210946-185210947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79168949	chr2:185210948-185210949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373304556	chr2:185210990-185210991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116560404	chr2:185211000-185211001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576975324	chr2:185211013-185211014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113292544	chr2:185211017-185211018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547890283	chr2:185211061-185211062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569703917	chr2:185211178-185211179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536734324	chr2:185211201-185211202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538021263	chr2:185211207-185211208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185823520	chr2:185211270-185211271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570660206	chr2:185211271-185211272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534818484	chr2:185211301-185211302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190250344	chr2:185211348-185211349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs180990813	chr2:185211353-185211354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75232847	chr2:185211375-185211376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114425618	chr2:185211442-185211443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs80105762	chr2:185211443-185211444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74846351	chr2:185211462-185211463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs71430143	chr2:185211483-185211484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148717435	chr2:185211514-185211515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185771136	chr2:185211554-185211555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142256614	chr2:185211563-185211564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377372676	chr2:185211564-185211565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs61196908	chr2:185233001-185233002	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs74846548	chr2:185233044-185233045	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs551899694	chr2:185233058-185233059	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs185480163	chr2:185233059-185233060	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs527902273	chr2:185233090-185233091	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs549670330	chr2:185233123-185233124	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs551840891	chr2:185233129-185233130	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs144891530	chr2:185233145-185233146	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs529679366	chr2:185233150-185233151	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs13387150	chr2:185233191-185233192	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs550293963	chr2:185233203-185233204	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs202128573	chr2:185233244-185233245	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs374765371	chr2:185233246-185233247	Active TSS	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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185210600-185211600	Enhancers	HUVEC	blood vessel
2	chr2:185211000-185211400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr2:185233000-185233800	Active TSS	Liver	Liver
4	chr2:185233600-185234200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:185233800-185234200	Flanking Active TSS	Liver	Liver
6	chr2:185234200-185234800	Active TSS	Liver	Liver
7	chr2:185234800-185235200	Weak transcription	Liver	Liver
8	chr2:185235200-185235800	ZNF genes & repeats	Liver	Liver
9	chr2:185235800-185236200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:185235800-185237200	Enhancers	Primary B cells from peripheral blood	blood
11	chr2:185236200-185236600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:185236200-185237200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:185236200-185237800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:185236400-185237200	Enhancers	Fetal Stomach	stomach
15	chr2:185236600-185237200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:185236600-185237600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:185236600-185238200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:185236800-185237400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr2:185236800-185237400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:185236800-185237600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:185236800-185237600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:185236800-185237600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:185236800-185237600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:185236800-185238200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:185237000-185237600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:185237200-185237600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr2:185251600-185252200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:185259400-185260000	Enhancers	Liver	Liver
29	chr2:185270400-185270800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:185284200-185284600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:185284600-185285000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:185284600-185285200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr2:185288600-185289600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:185288800-185289200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr2:185289200-185289400	Enhancers	Adipose Nuclei	Adipose
36	chr2:185289400-185290000	Weak transcription	Adipose Nuclei	Adipose
37	chr2:185289600-185290000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:185290000-185290800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:185290000-185290800	Enhancers	Adipose Nuclei	Adipose
40	chr2:185295800-185296600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr2:185306000-185306200	Enhancers	GM12878-XiMat	blood
42	chr2:185306400-185307600	Weak transcription	GM12878-XiMat	blood
43	chr2:185307600-185308200	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr2:185307600-185308400	Enhancers	GM12878-XiMat	blood
45	chr2:185308200-185308600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr2:185308400-185308800	Flanking Active TSS	GM12878-XiMat	blood
47	chr2:185308600-185309000	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr2:185308800-185309400	Active TSS	GM12878-XiMat	blood
49	chr2:185309000-185309400	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr2:185309400-185309800	Enhancers	Pancreatic Islets	Pancreatic Islet

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