Variant report

Variant	nsv875791
Chromosome Location	chr2:212824999-212874828
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	BACH1	chr2:212845863-212845874	H1-hESC	embryonic stem cell:	n/a	n/a
2	BATF	chr2:212861625-212861892	GM12878	blood:	n/a	n/a
3	BATF	chr2:212861562-212861966	GM12878	blood:	n/a	n/a
4	BHLHE40	chr2:212870003-212870157	GM12878	blood:	n/a	n/a
5	CBX3	chr2:212869803-212870344	HCT-116	colon:	n/a	n/a
6	CEBPB	chr2:212865870-212866076	HepG2	liver:	n/a	chr2:212865974-212865985
7	CEBPB	chr2:212870037-212870315	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr2:212832105-212832293	H1-hESC	embryonic stem cell:	n/a	chr2:212832153-212832164 chr2:212832152-212832165
9	CEBPB	chr2:212869891-212870388	HCT-116	colon:	n/a	n/a
10	CEBPB	chr2:212834878-212835178	IMR90	lung:	n/a	chr2:212835027-212835038
11	CEBPB	chr2:212834867-212835174	A549	lung:	n/a	chr2:212835027-212835038
12	CEBPB	chr2:212834857-212835205	HepG2	liver:	n/a	chr2:212835027-212835038
13	CEBPB	chr2:212870053-212870336	IMR90	lung:	n/a	n/a
14	CEBPB	chr2:212831998-212832325	HepG2	liver:	n/a	chr2:212832153-212832164 chr2:212832152-212832165
15	CEBPB	chr2:212831990-212832334	IMR90	lung:	n/a	chr2:212832153-212832164 chr2:212832152-212832165
16	CEBPB	chr2:212832032-212832309	A549	lung:	n/a	chr2:212832153-212832164 chr2:212832152-212832165
17	CTCF	chr2:212869874-212870145	Medullo	brain:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
18	CTCF	chr2:212869920-212870070	HCPEpiC	choroid plexus:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
19	CTCF	chr2:212869820-212869970	GM12869	blood:	n/a	n/a
20	CTCF	chr2:212869893-212870119	HepG2	liver:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
21	CTCF	chr2:212869920-212870070	AoAF	blood vessel:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
22	CTCF	chr2:212869920-212870070	AG10803	skin:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
23	CTCF	chr2:212869900-212870050	HUVEC	blood vessel:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
24	CTCF	chr2:212869962-212870034	Lung_OC	lung:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
25	CTCF	chr2:212869796-212870346	SK-N-SH	brain:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
26	CTCF	chr2:212869881-212870141	A549	lung:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
27	CTCF	chr2:212869920-212870070	HRE	kidney:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
28	CTCF	chr2:212869920-212870070	HBMEC	blood vessel:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
29	CTCF	chr2:212869899-212870079	H1-hESC	embryonic stem cell:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
30	CTCF	chr2:212869868-212870117	LNCaP	prostate:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
31	CTCF	chr2:212869900-212870050	NHDF-neo	bronchial:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
32	CTCF	chr2:212869909-212870074	GM12891	blood:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
33	CTCF	chr2:212869940-212870090	GM12801	blood:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
34	CTCF	chr2:212870089-212870090	GM10248	blood:	n/a	n/a
35	CTCF	chr2:212869898-212870099	NHEK	skin:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
36	CTCF	chr2:212869873-212870083	T-47D	breast:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
37	CTCF	chr2:212869940-212870090	NHEK	skin:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
38	CTCF	chr2:212869900-212870050	GM12871	blood:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
39	CTCF	chr2:212869879-212870275	HCT-116	colon:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
40	CTCF	chr2:212869920-212870070	HA-sp	spinal cord:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
41	CTCF	chr2:212869920-212870070	AG04450	lung:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
42	CTCF	chr2:212869920-212870070	GM12873	blood:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
43	CTCF	chr2:212869840-212869990	A549	lung:	n/a	n/a
44	CTCF	chr2:212869920-212870070	HEEpiC	esophagus:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
45	CTCF	chr2:212870280-212870430	GM12864	blood:	n/a	n/a
46	CTCF	chr2:212869860-212870010	GM12865	blood:	n/a	n/a
47	CTCF	chr2:212869940-212870090	HAc	cerebellar:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
48	CTCF	chr2:212869907-212870088	Fibrobl	skin:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
49	CTCF	chr2:212869922-212870043	GM20000	blood:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012
50	CTCF	chr2:212869900-212870050	GM12873	blood:	n/a	chr2:212869996-212870017 chr2:212869995-212870011 chr2:212869994-212870012

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:212819022..212821702-chr2:212822393..212825012,4	MCF-7	breast:

Variant related genes	Relation type
ERBB4	TF binding region

Extended variants
information (count: 626 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:626 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573805362	chr2:212825491-212825492	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs542926062	chr2:212825496-212825497	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs547651696	chr2:212825512-212825513	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs558272344	chr2:212826060-212826061	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs141317916	chr2:212826062-212826063	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs145267038	chr2:212826176-212826177	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs183661913	chr2:212826198-212826199	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs75641218	chr2:212826204-212826205	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs147902674	chr2:212826208-212826209	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs572692793	chr2:212826224-212826225	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs368579840	chr2:212826273-212826274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544851534	chr2:212826278-212826279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141598999	chr2:212826287-212826288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186847205	chr2:212826335-212826336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34306926	chr2:212826392-212826393	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs560693109	chr2:212826404-212826405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370996306	chr2:212826438-212826439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs67565187	chr2:212826472-212826473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs150431648	chr2:212826477-212826478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535225313	chr2:212826569-212826570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551955918	chr2:212826614-212826615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571877890	chr2:212826635-212826636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573559977	chr2:212826697-212826698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73986004	chr2:212826706-212826707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs191680770	chr2:212826727-212826728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573938311	chr2:212826824-212826825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542204813	chr2:212826841-212826842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28535995	chr2:212826903-212826904	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs565694624	chr2:212826908-212826909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371236513	chr2:212826928-212826929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143951482	chr2:212826951-212826952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72935738	chr2:212826952-212826953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs74746441	chr2:212826982-212826983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs839500	chr2:212826983-212826984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs138122499	chr2:212826990-212826991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546419662	chr2:212827039-212827040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374831283	chr2:212827077-212827078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368702451	chr2:212827083-212827084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181866109	chr2:212827095-212827096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368080912	chr2:212827098-212827099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372630600	chr2:212827123-212827124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561071979	chr2:212827161-212827162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529646100	chr2:212827214-212827215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540274822	chr2:212827235-212827236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114203671	chr2:212827241-212827242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546709625	chr2:212827254-212827255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552125953	chr2:212827255-212827256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571728337	chr2:212827258-212827259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs16847346	chr2:212827279-212827280	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs576476651	chr2:212827308-212827309	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212826200-212826400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:212826400-212827200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:212827200-212827600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:212841800-212842600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:212845800-212847400	Enhancers	Fetal Heart	heart
6	chr2:212845800-212848200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:212845800-212848200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:212846400-212846600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:212846400-212848000	Enhancers	HUVEC	blood vessel
10	chr2:212847400-212853000	Weak transcription	Fetal Heart	heart
11	chr2:212853000-212853800	Enhancers	Fetal Heart	heart
12	chr2:212854600-212855200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:212859400-212859800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr2:212859400-212859800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:212861400-212861800	Enhancers	GM12878-XiMat	blood
16	chr2:212865000-212865200	Enhancers	Brain Hippocampus Middle	brain
17	chr2:212865200-212865800	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:212865800-212866400	Enhancers	Brain Anterior Caudate	brain
19	chr2:212865800-212866600	Enhancers	Brain Hippocampus Middle	brain
20	chr2:212872600-212874400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:212874200-212874800	Enhancers	Brain Angular Gyrus	brain
22	chr2:212874400-212875800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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