Variant report

Variant	nsv875494
Chromosome Location	chr2:185104115-185287387
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	chr2:185227990-185228275	HepG2	liver:	n/a	n/a
6	BHLHE40	chr2:185137191-185137291	K562	blood:	n/a	n/a
7	BHLHE40	chr2:185251589-185251715	K562	blood:	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	chr2:185167388-185167561	HepG2	liver:	n/a	chr2:185167453-185167464
12	CEBPB	chr2:185220639-185220873	HepG2	liver:	n/a	n/a
13	CEBPB	chr2:185112478-185112662	HepG2	liver:	n/a	n/a
14	CEBPB	chr2:185147241-185147522	HepG2	liver:	n/a	chr2:185147372-185147383
15	CEBPB	chr2:185147218-185147526	IMR90	lung:	n/a	chr2:185147372-185147383
16	CEBPB	chr2:185152684-185152884	K562	blood:	n/a	chr2:185152760-185152771 chr2:185152760-185152773
17	CEBPB	chr2:185234153-185234367	HepG2	liver:	n/a	chr2:185234227-185234240 chr2:185234228-185234239 chr2:185234227-185234240 chr2:185234205-185234216
18	CEBPB	chr2:185225898-185226098	K562	blood:	n/a	n/a
19	CEBPB	chr2:185251698-185251921	Hela-S3	cervix:	n/a	chr2:185251752-185251763
20	CEBPB	chr2:185167273-185167627	Hela-S3	cervix:	n/a	chr2:185167453-185167464
21	CEBPB	chr2:185132408-185132718	HepG2	liver:	n/a	chr2:185132561-185132572
22	CEBPB	chr2:185117823-185117990	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr2:185251635-185251802	K562	blood:	n/a	chr2:185251752-185251763
24	CEBPB	chr2:185251568-185251928	HepG2	liver:	n/a	chr2:185251752-185251763
25	CEBPB	chr2:185189157-185189474	HepG2	liver:	n/a	chr2:185189324-185189335 chr2:185189302-185189313
26	CEBPB	chr2:185207055-185207352	Hela-S3	cervix:	n/a	chr2:185207173-185207184 chr2:185207208-185207219 chr2:185207173-185207182
27	CEBPB	chr2:185255484-185255530	HepG2	liver:	n/a	chr2:185255514-185255525
28	CEBPB	chr2:185284749-185284771	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr2:185173289-185173559	HepG2	liver:	n/a	chr2:185173409-185173420
30	CEBPB	chr2:185228101-185228119	K562	blood:	n/a	n/a
31	CEBPB	chr2:185274251-185274354	K562	blood:	n/a	n/a
32	CEBPB	chr2:185135546-185135816	H1-hESC	embryonic stem cell:	n/a	chr2:185135672-185135689 chr2:185135675-185135686
33	CEBPB	chr2:185173271-185173521	Hela-S3	cervix:	n/a	chr2:185173409-185173420
34	CEBPB	chr2:185234071-185234445	HepG2	liver:	n/a	chr2:185234227-185234240 chr2:185234228-185234239 chr2:185234227-185234240 chr2:185234205-185234216
35	CEBPB	chr2:185207047-185207335	A549	lung:	n/a	chr2:185207173-185207184 chr2:185207208-185207219 chr2:185207173-185207182
36	CEBPB	chr2:185207011-185207394	HepG2	liver:	n/a	chr2:185207173-185207184 chr2:185207208-185207219 chr2:185207173-185207182
37	CEBPB	chr2:185135564-185135804	HepG2	liver:	n/a	chr2:185135672-185135689 chr2:185135675-185135686
38	CEBPB	chr2:185104623-185104834	HepG2	liver:	n/a	chr2:185104729-185104742 chr2:185104731-185104742 chr2:185104729-185104740 chr2:185104731-185104742 chr2:185104729-185104742
39	CTCF	chr2:185227882-185228392	MCF-7	breast:	n/a	n/a
40	CTCF	chr2:185227978-185228310	GM12878	blood:	n/a	n/a
41	CTCF	chr2:185228020-185228170	AG04449	skin:	n/a	n/a
42	CTCF	chr2:185228040-185228190	MCF-7	breast:	n/a	n/a
43	CTCF	chr2:185129823-185129906	GM13976	blood:	n/a	n/a
44	CTCF	chr2:185228100-185228250	BE2_C	brain:	n/a	n/a
45	CTCF	chr2:185228040-185228190	GM12869	blood:	n/a	n/a
46	CTCF	chr2:185264260-185264410	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr2:185228009-185228188	T-47D	breast:	n/a	n/a
48	CTCF	chr2:185228120-185228270	A549	lung:	n/a	n/a
49	CTCF	chr2:185228180-185228330	GM12872	blood:	n/a	n/a
50	CTCF	chr2:185228040-185228190	GM12873	blood:	n/a	n/a

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

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

Extended variants
information (count: 1712 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1712 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530316760	chr2:185116246-185116247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138339884	chr2:185116253-185116254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530951201	chr2:185116271-185116272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557203071	chr2:185116280-185116281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549150894	chr2:185116317-185116318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569070889	chr2:185116342-185116343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149636352	chr2:185116343-185116344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78030104	chr2:185116351-185116352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1378672	chr2:185116373-185116374	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs540320380	chr2:185116377-185116378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555627537	chr2:185116397-185116398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143460263	chr2:185116404-185116405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558703665	chr2:185116417-185116418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182368743	chr2:185116426-185116427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563169528	chr2:185116437-185116438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533672839	chr2:185116471-185116472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545777105	chr2:185116479-185116480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564064200	chr2:185116496-185116497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528142006	chr2:185116530-185116531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs137903848	chr2:185116535-185116536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186604160	chr2:185116542-185116543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371359675	chr2:185116555-185116556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529049274	chr2:185116574-185116575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550522598	chr2:185116614-185116615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73048983	chr2:185116724-185116725	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs539356471	chr2:185116725-185116726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192728781	chr2:185116866-185116867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143566051	chr2:185116907-185116908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372809098	chr2:185116925-185116926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147168520	chr2:185116976-185116977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574073999	chr2:185117059-185117060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544746342	chr2:185117108-185117109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556490444	chr2:185117126-185117127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376324587	chr2:185117147-185117148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578235563	chr2:185117155-185117156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371088446	chr2:185117168-185117169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545715673	chr2:185117184-185117185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34955339	chr2:185117189-185117190	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs185043841	chr2:185117190-185117191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539861248	chr2:185117200-185117201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187956912	chr2:185117221-185117222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193179604	chr2:185117225-185117226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184274867	chr2:185117242-185117243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28672086	chr2:185117257-185117258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs56112436	chr2:185117293-185117294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs6716902	chr2:185117309-185117310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533005202	chr2:185117322-185117323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551240147	chr2:185117381-185117382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566445522	chr2:185117388-185117389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534170504	chr2:185117408-185117409	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
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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185116200-185116600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:185116200-185117000	Enhancers	Adipose Nuclei	Adipose
3	chr2:185117000-185118800	Weak transcription	Adipose Nuclei	Adipose
4	chr2:185118800-185119000	Enhancers	Adipose Nuclei	Adipose
5	chr2:185121400-185121800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:185125000-185125600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:185125400-185127400	Enhancers	Liver	Liver
8	chr2:185125600-185127000	Enhancers	Adipose Nuclei	Adipose
9	chr2:185126000-185126800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:185126800-185128600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:185127000-185134200	Weak transcription	Adipose Nuclei	Adipose
12	chr2:185128600-185129200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:185129000-185129200	Enhancers	Liver	Liver
14	chr2:185129200-185134800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:185133800-185134200	Enhancers	Psoas Muscle	Psoas
16	chr2:185134200-185134600	Weak transcription	Psoas Muscle	Psoas
17	chr2:185134200-185136600	Enhancers	Adipose Nuclei	Adipose
18	chr2:185134600-185134800	Enhancers	Psoas Muscle	Psoas
19	chr2:185134600-185134800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr2:185134800-185136200	Weak transcription	Psoas Muscle	Psoas
21	chr2:185134800-185137000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:185135400-185137400	Enhancers	K562	blood
23	chr2:185135600-185136000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:185135600-185136000	Enhancers	Fetal Kidney	kidney
25	chr2:185135600-185136200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:185136000-185137000	Weak transcription	Fetal Kidney	kidney
27	chr2:185136000-185137600	Enhancers	Fetal Heart	heart
28	chr2:185136200-185136800	Enhancers	Psoas Muscle	Psoas
29	chr2:185136600-185137000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr2:185137000-185137200	Enhancers	Fetal Kidney	kidney
31	chr2:185167400-185169200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr2:185167600-185168600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:185168600-185169400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:185169600-185169800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:185181000-185182200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr2:185184400-185185000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:185185000-185188400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:185188400-185188600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:185188400-185189000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:185188400-185190800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:185188600-185189200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:185189200-185190400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:185189400-185189600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:185189600-185190000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:185189600-185190800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:185190400-185191000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:185190800-185191800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:185191000-185191200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:185200000-185200600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:185200600-185201600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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