Variant report

Variant	nsv581472
Chromosome Location	chr2:37235324-37291320
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	chr2:37287122-37287354	K562	blood:	n/a	n/a
2	ATF2	chr2:37239989-37240618	GM12878	blood:	n/a	n/a
3	BCL11A	chr2:37240105-37240439	GM12878	blood:	n/a	n/a
4	BCLAF1	chr2:37239997-37240602	GM12878	blood:	n/a	n/a
5	BHLHE40	chr2:37240130-37240517	GM12878	blood:	n/a	n/a
6	BRCA1	chr2:37275816-37275880	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr2:37285054-37285066	K562	blood:	n/a	n/a
8	CEBPB	chr2:37246278-37246570	HepG2	liver:	n/a	chr2:37246387-37246398 chr2:37246387-37246398 chr2:37246387-37246400 chr2:37246388-37246399 chr2:37246409-37246420
9	CEBPB	chr2:37279880-37280061	A549	lung:	n/a	chr2:37280024-37280035
10	CEBPB	chr2:37269316-37269583	HepG2	liver:	n/a	chr2:37269437-37269448
11	CEBPB	chr2:37275785-37275975	A549	lung:	n/a	chr2:37275932-37275949 chr2:37275935-37275947
12	CEBPB	chr2:37246316-37246520	Hela-S3	cervix:	n/a	chr2:37246387-37246398 chr2:37246387-37246398 chr2:37246387-37246400 chr2:37246388-37246399 chr2:37246409-37246420
13	CEBPB	chr2:37265024-37265238	Hela-S3	cervix:	n/a	chr2:37265111-37265122
14	CEBPB	chr2:37279918-37280329	HepG2	liver:	n/a	chr2:37280024-37280035
15	CEBPB	chr2:37264957-37265276	A549	lung:	n/a	chr2:37265111-37265122
16	CEBPB	chr2:37248053-37248604	HepG2	liver:	n/a	chr2:37248429-37248440 chr2:37248084-37248097
17	CEBPB	chr2:37265046-37265146	H1-hESC	embryonic stem cell:	n/a	chr2:37265111-37265122
18	CEBPB	chr2:37264945-37265299	K562	blood:	n/a	chr2:37265111-37265122
19	CEBPB	chr2:37246254-37246589	A549	lung:	n/a	chr2:37246387-37246398 chr2:37246387-37246398 chr2:37246387-37246400 chr2:37246388-37246399 chr2:37246409-37246420
20	CEBPB	chr2:37246325-37246586	K562	blood:	n/a	chr2:37246387-37246398 chr2:37246387-37246398 chr2:37246387-37246400 chr2:37246388-37246399 chr2:37246409-37246420
21	CEBPB	chr2:37279874-37280161	K562	blood:	n/a	chr2:37280024-37280035
22	CEBPB	chr2:37247617-37248603	IMR90	lung:	n/a	chr2:37248429-37248440 chr2:37248084-37248097
23	CEBPB	chr2:37246381-37246531	IMR90	lung:	n/a	chr2:37246387-37246398 chr2:37246387-37246398 chr2:37246387-37246400 chr2:37246388-37246399 chr2:37246409-37246420
24	CEBPB	chr2:37264958-37265193	MCF-7	breast:	n/a	chr2:37265111-37265122
25	CEBPB	chr2:37264938-37265297	HepG2	liver:	n/a	chr2:37265111-37265122
26	CEBPB	chr2:37264954-37265270	IMR90	lung:	n/a	chr2:37265111-37265122
27	CTCF	chr2:37253340-37253490	HCT-116	colon:	n/a	n/a
28	CTCF	chr2:37253300-37253450	HCFaa	heart:	n/a	n/a
29	CTCF	chr2:37253260-37253410	RPTEC	kidney:	n/a	n/a
30	CTCF	chr2:37253300-37253450	HVMF	connective:	n/a	n/a
31	CTCF	chr2:37253340-37253490	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr2:37253323-37253489	Medullo	brain:	n/a	n/a
33	CTCF	chr2:37253329-37253503	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr2:37253332-37253466	GM19239	blood:	n/a	n/a
35	CTCF	chr2:37272960-37273110	Caco-2	colon:	n/a	n/a
36	CTCF	chr2:37253320-37253470	HPAF	blood vessel:	n/a	n/a
37	CTCF	chr2:37253321-37253476	NHEK	skin:	n/a	n/a
38	CTCF	chr2:37253280-37253430	HepG2	liver:	n/a	n/a
39	CTCF	chr2:37253300-37253450	BJ	skin:	n/a	n/a
40	CTCF	chr2:37253320-37253470	HPF	lung:	n/a	n/a
41	CTCF	chr2:37253300-37253450	SAEC	small airway:	n/a	n/a
42	CTCF	chr2:37253260-37253530	A549	lung:	n/a	n/a
43	CTCF	chr2:37253300-37253450	AG09309	skin:	n/a	n/a
44	CTCF	chr2:37244466-37244517	MCF-7	breast:	n/a	n/a
45	CTCF	chr2:37253359-37253469	GM10266	blood:	n/a	n/a
46	CTCF	chr2:37253380-37253530	GM12867	blood:	n/a	n/a
47	CTCF	chr2:37253148-37253615	HepG2	liver:	n/a	n/a
48	CTCF	chr2:37253320-37253470	GM12866	blood:	n/a	n/a
49	CTCF	chr2:37253320-37253470	K562	blood:	n/a	n/a
50	CTCF	chr2:37253320-37253470	HA-sp	spinal cord:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:37284639..37287706-chr2:37310103..37313648,3	K562	blood:
2	chr2:37258831..37261022-chr2:37271777..37274021,2	MCF-7	breast:
3	chr2:37232752..37235418-chr2:37239434..37241635,2	K562	blood:
4	chr2:37273282..37277482-chr2:37277722..37281272,4	K562	blood:
5	chr2:37274910..37276585-chr2:37282399..37284618,2	MCF-7	breast:
6	chr2:37268003..37270548-chr2:37276680..37278983,2	K562	blood:
7	chr2:37263179..37264825-chr2:37269498..37271219,2	K562	blood:
8	chr2:37193009..37195682-chr2:37250815..37252662,2	K562	blood:
9	chr2:37286149..37287887-chr2:37310266..37312882,2	K562	blood:
10	chr2:37219829..37222181-chr2:37235362..37237238,2	K562	blood:
11	chr2:37237050..37239169-chr2:37241274..37243867,2	K562	blood:
12	chr2:37266157..37269087-chr2:37341136..37344012,2	K562	blood:
13	chr2:37250519..37253429-chr2:85770477..85772159,2	MCF-7	breast:
14	chr2:37275245..37277976-chr2:37283983..37286805,2	K562	blood:
15	chr2:37273282..37277482-chr2:37277722..37281272,4	K562	blood:
16	chr2:37268003..37270548-chr2:37276680..37278983,2	K562	blood:
17	chr2:37263179..37264825-chr2:37269498..37271219,2	K562	blood:
18	chr2:37275245..37277976-chr2:37283983..37286805,2	K562	blood:
19	chr2:37192475..37194046-chr2:37274865..37276412,2	K562	blood:
20	chr2:37191677..37193362-chr2:37233119..37235779,2	K562	blood:
21	chr2:37251052..37253037-chr2:37255174..37257744,2	K562	blood:
22	chr2:37288334..37292049-chr2:37300310..37302436,3	K562	blood:
23	chr2:37275982..37277521-chr2:37277722..37279319,2	K562	blood:
24	chr2:37258831..37261022-chr2:37271777..37274021,2	MCF-7	breast:
25	chr2:37251052..37253037-chr2:37255174..37257744,2	K562	blood:
26	chr2:37275982..37277521-chr2:37277722..37279319,2	K562	blood:
27	chr2:37237050..37239169-chr2:37241274..37243867,2	K562	blood:
28	chr2:37212231..37214849-chr2:37242255..37244987,2	K562	blood:

Variant related genes	Relation type
HEATR5B	TF binding region
ENSG00000152133	chromatin interactions
ENSG00000115808	chromatin interactions
ENSG00000008869	chromatin interactions

Extended variants
information (count: 2396 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2396 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2160411	chr2:37235324-37235325	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs147995117	chr2:37235394-37235395	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs573174205	chr2:37235443-37235444	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540648334	chr2:37235458-37235459	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10169667	chr2:37235525-37235526	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577305345	chr2:37235527-37235528	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs180959592	chr2:37235543-37235544	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563145755	chr2:37235681-37235682	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530686443	chr2:37235688-37235689	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548880225	chr2:37235689-37235690	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs151110628	chr2:37235725-37235726	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372217707	chr2:37235775-37235776	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139581322	chr2:37235782-37235783	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562047856	chr2:37235794-37235795	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149680203	chr2:37235831-37235832	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376150738	chr2:37235862-37235863	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183673204	chr2:37235893-37235894	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140310043	chr2:37235908-37235909	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571245366	chr2:37235911-37235912	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146430953	chr2:37235917-37235918	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs199872653	chr2:37235920-37235921	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142362182	chr2:37235927-37235928	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140557608	chr2:37235961-37235962	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375478598	chr2:37235976-37235977	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369941774	chr2:37235982-37235983	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373404513	chr2:37235996-37235997	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374834280	chr2:37236002-37236003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200754283	chr2:37236018-37236019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145953830	chr2:37236053-37236054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189510326	chr2:37236130-37236131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555277712	chr2:37236146-37236147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573524623	chr2:37236162-37236163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533929008	chr2:37236174-37236175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138517806	chr2:37236183-37236184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577220594	chr2:37236231-37236232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564432905	chr2:37236258-37236259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544321665	chr2:37236270-37236271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563107746	chr2:37236271-37236272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181778637	chr2:37236302-37236303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141888995	chr2:37236315-37236316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577405836	chr2:37236333-37236334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528427586	chr2:37236350-37236351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541638737	chr2:37236355-37236356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187176286	chr2:37236356-37236357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567266764	chr2:37236357-37236358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192053211	chr2:37236358-37236359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111581305	chr2:37236397-37236398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113035863	chr2:37236404-37236405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10183865	chr2:37236421-37236422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs57022846	chr2:37236422-37236423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1685 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37195200-37252800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:37195400-37248600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:37209000-37290200	Weak transcription	Small Intestine	intestine
4	chr2:37211400-37238200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr2:37214200-37248400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:37216000-37239800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:37219200-37256400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:37220000-37239600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:37221000-37307600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:37223200-37236200	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:37223400-37236000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:37223400-37282600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:37223400-37300400	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr2:37223600-37235400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:37224000-37236000	Strong transcription	Adipose Nuclei	Adipose
16	chr2:37224000-37236000	Strong transcription	Fetal Muscle Trunk	muscle
17	chr2:37224000-37238600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr2:37224000-37256000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:37224000-37270600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:37224200-37235400	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:37224400-37236000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:37224400-37236600	Strong transcription	Left Ventricle	heart
23	chr2:37224600-37248200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:37225200-37236000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:37225200-37236000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:37225200-37239800	Weak transcription	Colonic Mucosa	Colon
27	chr2:37225400-37236000	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:37225400-37237000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:37225400-37238800	Strong transcription	Fetal Muscle Leg	muscle
30	chr2:37226200-37237600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:37226400-37236200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:37226600-37236200	Strong transcription	Placenta	Placenta
33	chr2:37226800-37256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:37227400-37239600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:37227800-37236000	Strong transcription	Primary B cells from cord blood	blood
36	chr2:37227800-37246000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:37228000-37247200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:37228600-37236000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:37228600-37236000	Strong transcription	HepG2	liver
40	chr2:37228600-37237000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:37228600-37240600	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr2:37228600-37267000	Weak transcription	Stomach Mucosa	stomach
43	chr2:37228800-37236000	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr2:37229000-37236000	Strong transcription	Osteobl	bone
45	chr2:37229200-37236000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:37229200-37236000	Strong transcription	Fetal Intestine Large	intestine
47	chr2:37229800-37251200	Weak transcription	K562	blood
48	chr2:37230000-37239800	Weak transcription	Esophagus	oesophagus
49	chr2:37230000-37242000	Weak transcription	A549	lung
50	chr2:37230400-37238200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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