Variant report

Variant	nsv1011774
Chromosome Location	chr2:185100627-185289130
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:185136996-185137081	K562	blood:	n/a	n/a
2	ARID3A	chr2:185234055-185234428	HepG2	liver:	n/a	n/a
3	ATF2	chr2:185187340-185187651	GM12878	blood:	n/a	n/a
4	BATF	chr2:185187318-185187665	GM12878	blood:	n/a	n/a
5	BHLHE40	chr2:185251589-185251715	K562	blood:	n/a	n/a
6	BHLHE40	chr2:185137191-185137291	K562	blood:	n/a	n/a
7	BHLHE40	chr2:185227990-185228275	HepG2	liver:	n/a	n/a
8	BRCA1	chr2:185234005-185234016	HepG2	liver:	n/a	n/a
9	CBX3	chr2:185271763-185272041	K562	blood:	n/a	n/a
10	CCNT2	chr2:185106876-185106964	K562	blood:	n/a	n/a
11	CEBPB	chr2:185132408-185132718	HepG2	liver:	n/a	chr2:185132561-185132572
12	CEBPB	chr2:185104623-185104834	HepG2	liver:	n/a	chr2:185104729-185104742 chr2:185104731-185104742 chr2:185104729-185104740 chr2:185104731-185104742 chr2:185104729-185104742
13	CEBPB	chr2:185152684-185152884	K562	blood:	n/a	chr2:185152760-185152771 chr2:185152760-185152773
14	CEBPB	chr2:185207047-185207335	A549	lung:	n/a	chr2:185207173-185207184 chr2:185207208-185207219 chr2:185207173-185207182
15	CEBPB	chr2:185173289-185173559	HepG2	liver:	n/a	chr2:185173409-185173420
16	CEBPB	chr2:185251568-185251928	HepG2	liver:	n/a	chr2:185251752-185251763
17	CEBPB	chr2:185147241-185147522	HepG2	liver:	n/a	chr2:185147372-185147383
18	CEBPB	chr2:185220639-185220873	HepG2	liver:	n/a	n/a
19	CEBPB	chr2:185284749-185284771	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr2:185117823-185117990	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr2:185255484-185255530	HepG2	liver:	n/a	chr2:185255514-185255525
22	CEBPB	chr2:185189157-185189474	HepG2	liver:	n/a	chr2:185189324-185189335 chr2:185189302-185189313
23	CEBPB	chr2:185228101-185228119	K562	blood:	n/a	n/a
24	CEBPB	chr2:185225898-185226098	K562	blood:	n/a	n/a
25	CEBPB	chr2:185234153-185234367	HepG2	liver:	n/a	chr2:185234227-185234240 chr2:185234228-185234239 chr2:185234227-185234240 chr2:185234205-185234216
26	CEBPB	chr2:185207011-185207394	HepG2	liver:	n/a	chr2:185207173-185207184 chr2:185207208-185207219 chr2:185207173-185207182
27	CEBPB	chr2:185135546-185135816	H1-hESC	embryonic stem cell:	n/a	chr2:185135672-185135689 chr2:185135675-185135686
28	CEBPB	chr2:185251698-185251921	Hela-S3	cervix:	n/a	chr2:185251752-185251763
29	CEBPB	chr2:185173271-185173521	Hela-S3	cervix:	n/a	chr2:185173409-185173420
30	CEBPB	chr2:185167388-185167561	HepG2	liver:	n/a	chr2:185167453-185167464
31	CEBPB	chr2:185251635-185251802	K562	blood:	n/a	chr2:185251752-185251763
32	CEBPB	chr2:185234071-185234445	HepG2	liver:	n/a	chr2:185234227-185234240 chr2:185234228-185234239 chr2:185234227-185234240 chr2:185234205-185234216
33	CEBPB	chr2:185112478-185112662	HepG2	liver:	n/a	n/a
34	CEBPB	chr2:185207055-185207352	Hela-S3	cervix:	n/a	chr2:185207173-185207184 chr2:185207208-185207219 chr2:185207173-185207182
35	CEBPB	chr2:185135564-185135804	HepG2	liver:	n/a	chr2:185135672-185135689 chr2:185135675-185135686
36	CEBPB	chr2:185147218-185147526	IMR90	lung:	n/a	chr2:185147372-185147383
37	CEBPB	chr2:185167273-185167627	Hela-S3	cervix:	n/a	chr2:185167453-185167464
38	CEBPB	chr2:185274251-185274354	K562	blood:	n/a	n/a
39	CTCF	chr2:185228120-185228270	A549	lung:	n/a	n/a
40	CTCF	chr2:185228180-185228330	GM12872	blood:	n/a	n/a
41	CTCF	chr2:185228060-185228210	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr2:185211510-185211604	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr2:185227960-185228110	GM12868	blood:	n/a	n/a
44	CTCF	chr2:185228088-185228185	GM19240	blood:	n/a	n/a
45	CTCF	chr2:185228020-185228170	AG04449	skin:	n/a	n/a
46	CTCF	chr2:185228020-185228170	BE2_C	brain:	n/a	n/a
47	CTCF	chr2:185228051-185228227	HepG2	liver:	n/a	n/a
48	CTCF	chr2:185228033-185228249	GM12878	blood:	n/a	n/a
49	CTCF	chr2:185228080-185228230	MCF-7	breast:	n/a	n/a
50	CTCF	chr2:185228043-185228239	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:185201237..185203817-chr2:185332460..185335138,2	K562	blood:
2	chr2:185169023..185171389-chr2:185175264..185178248,2	K562	blood:
3	chr2:185204369..185206130-chr2:185218623..185221505,2	K562	blood:
4	chr2:185103488..185105465-chr2:185244326..185245928,2	K562	blood:
5	chr2:185223918..185225918-chr2:185227977..185230621,2	K562	blood:
6	chr2:185226895..185229045-chr2:185330186..185332070,2	K562	blood:
7	chr2:185128748..185131745-chr2:185134110..185138355,3	K562	blood:
8	chr2:185208077..185209998-chr2:185211977..185213608,2	K562	blood:
9	chr2:185169023..185171389-chr2:185175264..185178248,2	K562	blood:
10	chr15:41186270..41188900-chr2:185100150..185103068,2	K562	blood:
11	chr2:185160917..185163331-chr2:185190953..185193318,2	K562	blood:
12	chr2:185065862..185068679-chr2:185266062..185268642,2	K562	blood:
13	chr2:185265120..185267657-chr2:185268029..185269760,2	K562	blood:
14	chr2:185230131..185232758-chr2:185233211..185235341,2	MCF-7	breast:
15	chr16:57227705..57228253-chr2:185151504..185152004,2	NB4	blood:
16	chr2:185223918..185225918-chr2:185227977..185230621,2	K562	blood:
17	chr2:185103488..185105465-chr2:185244326..185245928,2	K562	blood:
18	chr2:185267016..185267836-chr3:27870668..27871485,2	MCF-7	breast:
19	chr2:185066479..185068495-chr2:185209496..185211402,2	K562	blood:
20	chr2:127533916..127534758-chr2:185187632..185188334,2	MCF-7	breast:
21	chr2:185160917..185163331-chr2:185190953..185193318,2	K562	blood:
22	chr2:185208077..185209998-chr2:185211977..185213608,2	K562	blood:
23	chr2:185115001..185116702-chr2:185121013..185123546,2	K562	blood:
24	chr2:185115001..185116702-chr2:185121013..185123546,2	K562	blood:
25	chr2:185128748..185131745-chr2:185134110..185138355,3	K562	blood:
26	chr2:185265120..185267657-chr2:185268029..185269760,2	K562	blood:
27	chr2:185230131..185232758-chr2:185233211..185235341,2	MCF-7	breast:
28	chr2:185204369..185206130-chr2:185218623..185221505,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NCKAP1-4	chr2:185171240-185171314	l_2003_chr2:185169076-185171314_76bGuttman_hLF
2	lnc-NCKAP1-4	chr2:185169077-185169159	l_2003_chr2:185169076-185171314_76bGuttman_hLF
3	lnc-ZNF804A-3	chr2:185246875-185247280	NONHSAT075951
4	lnc-ZNF804A-3	chr2:185244856-185245013	NONHSAT075951
5	lnc-NCKAP1-4	chr2:185169187-185169348	l_2003_chr2:185169076-185171314_76bGuttman_hLF

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

Variant related genes	Relation type
MIR548AE1	TF binding region
ENSG00000104142	chromatin interactions

Extended variants
information (count: 1837 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1837 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544105427	chr2:185100640-185100641	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs556097473	chr2:185100642-185100643	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs145556353	chr2:185100777-185100778	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs545046830	chr2:185100842-185100843	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560362375	chr2:185100873-185100874	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs527819025	chr2:185100890-185100891	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs184480110	chr2:185100980-185100981	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs561551121	chr2:185100986-185100987	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs531993930	chr2:185101000-185101001	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs6759052	chr2:185101095-185101096	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs572008391	chr2:185101113-185101114	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs78637924	chr2:185101152-185101153	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571255318	chr2:185101160-185101161	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371522280	chr2:185101165-185101166	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs148909966	chr2:185101180-185101181	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs116494182	chr2:185101196-185101197	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs370588915	chr2:185101277-185101278	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs533911381	chr2:185101286-185101287	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs548859356	chr2:185101304-185101305	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs72901145	chr2:185101311-185101312	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs545922622	chr2:185101378-185101379	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs189004152	chr2:185101399-185101400	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs556861903	chr2:185101400-185101401	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs180845991	chr2:185101402-185101403	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577544250	chr2:185101404-185101405	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs112823668	chr2:185101418-185101419	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs538638640	chr2:185101431-185101432	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs35453312	chr2:185101436-185101437	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs572419449	chr2:185101444-185101445	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs543108338	chr2:185101464-185101465	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs561281691	chr2:185101495-185101496	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs527498523	chr2:185101538-185101539	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs576698617	chr2:185101541-185101542	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs186520639	chr2:185101582-185101583	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs565564769	chr2:185101586-185101587	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs532872983	chr2:185101588-185101589	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs112334373	chr2:185101668-185101669	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs147008998	chr2:185101681-185101682	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs191346771	chr2:185101698-185101699	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs549055468	chr2:185101737-185101738	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs181719488	chr2:185101738-185101739	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs1037619	chr2:185101747-185101748	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs185966017	chr2:185101765-185101766	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs530898262	chr2:185101784-185101785	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs571173786	chr2:185101788-185101789	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs538944680	chr2:185101797-185101798	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs111325257	chr2:185101805-185101806	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs79137057	chr2:185101850-185101851	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs572410082	chr2:185101856-185101857	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs536288421	chr2:185101865-185101866	Inactive region	Chromatin interactive region	1 gene(s)	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
Non-syndromic sensorineural hearing loss	22037309	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

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185100200-185100800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr2:185116200-185116600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:185116200-185117000	Enhancers	Adipose Nuclei	Adipose
4	chr2:185117000-185118800	Weak transcription	Adipose Nuclei	Adipose
5	chr2:185118800-185119000	Enhancers	Adipose Nuclei	Adipose
6	chr2:185121400-185121800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:185125000-185125600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:185125400-185127400	Enhancers	Liver	Liver
9	chr2:185125600-185127000	Enhancers	Adipose Nuclei	Adipose
10	chr2:185126000-185126800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:185126800-185128600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:185127000-185134200	Weak transcription	Adipose Nuclei	Adipose
13	chr2:185128600-185129200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:185129000-185129200	Enhancers	Liver	Liver
15	chr2:185129200-185134800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:185133800-185134200	Enhancers	Psoas Muscle	Psoas
17	chr2:185134200-185134600	Weak transcription	Psoas Muscle	Psoas
18	chr2:185134200-185136600	Enhancers	Adipose Nuclei	Adipose
19	chr2:185134600-185134800	Enhancers	Psoas Muscle	Psoas
20	chr2:185134600-185134800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:185134800-185136200	Weak transcription	Psoas Muscle	Psoas
22	chr2:185134800-185137000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:185135400-185137400	Enhancers	K562	blood
24	chr2:185135600-185136000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:185135600-185136000	Enhancers	Fetal Kidney	kidney
26	chr2:185135600-185136200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:185136000-185137000	Weak transcription	Fetal Kidney	kidney
28	chr2:185136000-185137600	Enhancers	Fetal Heart	heart
29	chr2:185136200-185136800	Enhancers	Psoas Muscle	Psoas
30	chr2:185136600-185137000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr2:185137000-185137200	Enhancers	Fetal Kidney	kidney
32	chr2:185167400-185169200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr2:185167600-185168600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:185168600-185169400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:185169600-185169800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:185181000-185182200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr2:185184400-185185000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:185185000-185188400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:185188400-185188600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:185188400-185189000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:185188400-185190800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:185188600-185189200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:185189200-185190400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:185189400-185189600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:185189600-185190000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:185189600-185190800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:185190400-185191000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:185190800-185191800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:185191000-185191200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:185200000-185200600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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