Variant report

Variant	nsv875496
Chromosome Location	chr2:185134237-185277167
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	chr2:185227990-185228275	HepG2	liver:	n/a	n/a
7	BHLHE40	chr2:185137191-185137291	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	CEBPB	chr2:185173289-185173559	HepG2	liver:	n/a	chr2:185173409-185173420
11	CEBPB	chr2:185228101-185228119	K562	blood:	n/a	n/a
12	CEBPB	chr2:185220639-185220873	HepG2	liver:	n/a	n/a
13	CEBPB	chr2:185167273-185167627	Hela-S3	cervix:	n/a	chr2:185167453-185167464
14	CEBPB	chr2:185251698-185251921	Hela-S3	cervix:	n/a	chr2:185251752-185251763
15	CEBPB	chr2:185207055-185207352	Hela-S3	cervix:	n/a	chr2:185207173-185207184 chr2:185207208-185207219 chr2:185207173-185207182
16	CEBPB	chr2:185135564-185135804	HepG2	liver:	n/a	chr2:185135672-185135689 chr2:185135675-185135686
17	CEBPB	chr2:185225898-185226098	K562	blood:	n/a	n/a
18	CEBPB	chr2:185234071-185234445	HepG2	liver:	n/a	chr2:185234227-185234240 chr2:185234228-185234239 chr2:185234227-185234240 chr2:185234205-185234216
19	CEBPB	chr2:185274251-185274354	K562	blood:	n/a	n/a
20	CEBPB	chr2:185234153-185234367	HepG2	liver:	n/a	chr2:185234227-185234240 chr2:185234228-185234239 chr2:185234227-185234240 chr2:185234205-185234216
21	CEBPB	chr2:185251568-185251928	HepG2	liver:	n/a	chr2:185251752-185251763
22	CEBPB	chr2:185251635-185251802	K562	blood:	n/a	chr2:185251752-185251763
23	CEBPB	chr2:185147241-185147522	HepG2	liver:	n/a	chr2:185147372-185147383
24	CEBPB	chr2:185147218-185147526	IMR90	lung:	n/a	chr2:185147372-185147383
25	CEBPB	chr2:185173271-185173521	Hela-S3	cervix:	n/a	chr2:185173409-185173420
26	CEBPB	chr2:185167388-185167561	HepG2	liver:	n/a	chr2:185167453-185167464
27	CEBPB	chr2:185207047-185207335	A549	lung:	n/a	chr2:185207173-185207184 chr2:185207208-185207219 chr2:185207173-185207182
28	CEBPB	chr2:185152684-185152884	K562	blood:	n/a	chr2:185152760-185152771 chr2:185152760-185152773
29	CEBPB	chr2:185135546-185135816	H1-hESC	embryonic stem cell:	n/a	chr2:185135672-185135689 chr2:185135675-185135686
30	CEBPB	chr2:185207011-185207394	HepG2	liver:	n/a	chr2:185207173-185207184 chr2:185207208-185207219 chr2:185207173-185207182
31	CEBPB	chr2:185255484-185255530	HepG2	liver:	n/a	chr2:185255514-185255525
32	CEBPB	chr2:185189157-185189474	HepG2	liver:	n/a	chr2:185189324-185189335 chr2:185189302-185189313
33	CTCF	chr2:185228009-185228188	T-47D	breast:	n/a	n/a
34	CTCF	chr2:185228040-185228190	GM12873	blood:	n/a	n/a
35	CTCF	chr2:185228043-185228239	A549	lung:	n/a	n/a
36	CTCF	chr2:185228086-185228183	NHEK	skin:	n/a	n/a
37	CTCF	chr2:185228080-185228230	NB4	blood:	n/a	n/a
38	CTCF	chr2:185228060-185228210	GM12873	blood:	n/a	n/a
39	CTCF	chr2:185264260-185264410	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr2:185264260-185264410	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr2:185258955-185259023	MCF-7	breast:	n/a	n/a
42	CTCF	chr2:185228100-185228250	BE2_C	brain:	n/a	n/a
43	CTCF	chr2:185228056-185228200	GM19239	blood:	n/a	n/a
44	CTCF	chr2:185211510-185211604	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr2:185228071-185228228	LNCaP	prostate:	n/a	n/a
46	CTCF	chr2:185228117-185228210	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr2:185228060-185228210	Caco-2	colon:	n/a	n/a
48	CTCF	chr2:185228060-185228210	GM06990	blood:	n/a	n/a
49	CTCF	chr2:185228120-185228270	GM12875	blood:	n/a	n/a
50	CTCF	chr2:185227881-185228277	MCF-7	breast:	n/a	n/a

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

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	chr2:185246875-185247280	NONHSAT075951
3	lnc-NCKAP1-4	chr2:185171240-185171314	l_2003_chr2:185169076-185171314_76bGuttman_hLF
4	lnc-NCKAP1-4	chr2:185169077-185169159	l_2003_chr2:185169076-185171314_76bGuttman_hLF
5	lnc-ZNF804A-3	chr2:185244856-185245013	NONHSAT075951

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: 1252 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1252 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13005060	chr2:185134237-185134238	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181794863	chr2:185134310-185134311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77940224	chr2:185134320-185134321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527448922	chr2:185134333-185134334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562299768	chr2:185134377-185134378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553999528	chr2:185134409-185134410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17582652	chr2:185134472-185134473	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs145570512	chr2:185134473-185134474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62175050	chr2:185134523-185134524	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs13005737	chr2:185134528-185134529	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs543474567	chr2:185134570-185134571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77763036	chr2:185134583-185134584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374198546	chr2:185134597-185134598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577278356	chr2:185134613-185134614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541171203	chr2:185134617-185134618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183635653	chr2:185134619-185134620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs13010727	chr2:185134620-185134621	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs13010926	chr2:185134645-185134646	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs188308120	chr2:185134659-185134660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs180877814	chr2:185134759-185134760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549520691	chr2:185134818-185134819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62175051	chr2:185134819-185134820	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs138061945	chr2:185134855-185134856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13011224	chr2:185134867-185134868	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs565866452	chr2:185134904-185134905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13011943	chr2:185134937-185134938	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs75340852	chr2:185135050-185135051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556050498	chr2:185135051-185135052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569857948	chr2:185135054-185135055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13012174	chr2:185135065-185135066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13012010	chr2:185135116-185135117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537413756	chr2:185135214-185135215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558672768	chr2:185135276-185135277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112786716	chr2:185135289-185135290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113387929	chr2:185135313-185135314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536053657	chr2:185135373-185135374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191360338	chr2:185135407-185135408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574662185	chr2:185135437-185135438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13012735	chr2:185135444-185135445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
40	rs181765936	chr2:185135462-185135463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72901197	chr2:185135472-185135473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575838584	chr2:185135498-185135499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185973835	chr2:185135505-185135506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564703875	chr2:185135543-185135544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191039185	chr2:185135560-185135561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183233233	chr2:185135581-185135582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559513622	chr2:185135609-185135610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529867859	chr2:185135635-185135636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548096305	chr2:185135636-185135637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114052424	chr2:185135698-185135699	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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185129200-185134800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:185134200-185134600	Weak transcription	Psoas Muscle	Psoas
3	chr2:185134200-185136600	Enhancers	Adipose Nuclei	Adipose
4	chr2:185134600-185134800	Enhancers	Psoas Muscle	Psoas
5	chr2:185134600-185134800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr2:185134800-185136200	Weak transcription	Psoas Muscle	Psoas
7	chr2:185134800-185137000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:185135400-185137400	Enhancers	K562	blood
9	chr2:185135600-185136000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:185135600-185136000	Enhancers	Fetal Kidney	kidney
11	chr2:185135600-185136200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:185136000-185137000	Weak transcription	Fetal Kidney	kidney
13	chr2:185136000-185137600	Enhancers	Fetal Heart	heart
14	chr2:185136200-185136800	Enhancers	Psoas Muscle	Psoas
15	chr2:185136600-185137000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr2:185137000-185137200	Enhancers	Fetal Kidney	kidney
17	chr2:185167400-185169200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:185167600-185168600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:185168600-185169400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:185169600-185169800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:185181000-185182200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:185184400-185185000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:185185000-185188400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:185188400-185188600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:185188400-185189000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:185188400-185190800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:185188600-185189200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:185189200-185190400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:185189400-185189600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:185189600-185190000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:185189600-185190800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:185190400-185191000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:185190800-185191800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:185191000-185191200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:185200000-185200600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:185200600-185201600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:185201400-185201800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
38	chr2:185201600-185201800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:185201600-185202000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
40	chr2:185201600-185202000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr2:185201600-185203800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
42	chr2:185202000-185204000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:185202200-185202600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
44	chr2:185202600-185203000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
45	chr2:185202800-185203000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:185203000-185204000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:185203000-185204400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
48	chr2:185203200-185203400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
49	chr2:185203200-185203400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
50	chr2:185203200-185203800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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