Variant report

Variant	esv1820206
Chromosome Location	chr2:37236821-37277811
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	ATF2	chr2:37239989-37240618	GM12878	blood:	n/a	n/a
2	BCL11A	chr2:37240105-37240439	GM12878	blood:	n/a	n/a
3	BCLAF1	chr2:37239997-37240602	GM12878	blood:	n/a	n/a
4	BHLHE40	chr2:37240130-37240517	GM12878	blood:	n/a	n/a
5	BRCA1	chr2:37275816-37275880	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr2:37264954-37265270	IMR90	lung:	n/a	chr2:37265111-37265122
7	CEBPB	chr2:37248053-37248604	HepG2	liver:	n/a	chr2:37248429-37248440 chr2:37248084-37248097
8	CEBPB	chr2:37246381-37246531	IMR90	lung:	n/a	chr2:37246387-37246398 chr2:37246387-37246398 chr2:37246387-37246400 chr2:37246388-37246399 chr2:37246409-37246420
9	CEBPB	chr2:37265024-37265238	Hela-S3	cervix:	n/a	chr2:37265111-37265122
10	CEBPB	chr2:37264958-37265193	MCF-7	breast:	n/a	chr2:37265111-37265122
11	CEBPB	chr2:37269316-37269583	HepG2	liver:	n/a	chr2:37269437-37269448
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	chr2:37264945-37265299	K562	blood:	n/a	chr2:37265111-37265122
14	CEBPB	chr2:37247617-37248603	IMR90	lung:	n/a	chr2:37248429-37248440 chr2:37248084-37248097
15	CEBPB	chr2:37246254-37246589	A549	lung:	n/a	chr2:37246387-37246398 chr2:37246387-37246398 chr2:37246387-37246400 chr2:37246388-37246399 chr2:37246409-37246420
16	CEBPB	chr2:37265046-37265146	H1-hESC	embryonic stem cell:	n/a	chr2:37265111-37265122
17	CEBPB	chr2:37264938-37265297	HepG2	liver:	n/a	chr2:37265111-37265122
18	CEBPB	chr2:37246278-37246570	HepG2	liver:	n/a	chr2:37246387-37246398 chr2:37246387-37246398 chr2:37246387-37246400 chr2:37246388-37246399 chr2:37246409-37246420
19	CEBPB	chr2:37264957-37265276	A549	lung:	n/a	chr2:37265111-37265122
20	CEBPB	chr2:37275785-37275975	A549	lung:	n/a	chr2:37275932-37275949 chr2:37275935-37275947
21	CEBPB	chr2:37246325-37246586	K562	blood:	n/a	chr2:37246387-37246398 chr2:37246387-37246398 chr2:37246387-37246400 chr2:37246388-37246399 chr2:37246409-37246420
22	CTCF	chr2:37253131-37253530	A549	lung:	n/a	n/a
23	CTCF	chr2:37253160-37253310	BJ	skin:	n/a	n/a
24	CTCF	chr2:37253300-37253450	AG09309	skin:	n/a	n/a
25	CTCF	chr2:37253300-37253450	GM12869	blood:	n/a	n/a
26	CTCF	chr2:37253319-37253446	MCF-7	breast:	n/a	n/a
27	CTCF	chr2:37253303-37253475	MCF-7	breast:	n/a	n/a
28	CTCF	chr2:37253360-37253510	GM12874	blood:	n/a	n/a
29	CTCF	chr2:37253280-37253430	HAc	cerebellar:	n/a	n/a
30	CTCF	chr2:37253320-37253470	HBMEC	blood vessel:	n/a	n/a
31	CTCF	chr2:37253367-37253450	LNCaP	prostate:	n/a	n/a
32	CTCF	chr2:37253320-37253470	HA-sp	spinal cord:	n/a	n/a
33	CTCF	chr2:37253288-37253526	GM12878	blood:	n/a	n/a
34	CTCF	chr2:37253300-37253450	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr2:37253380-37253530	HRE	kidney:	n/a	n/a
36	CTCF	chr2:37253272-37253476	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr2:37253329-37253503	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr2:37253330-37253478	GM13977	blood:	n/a	n/a
39	CTCF	chr2:37253271-37253472	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr2:37253321-37253476	NHEK	skin:	n/a	n/a
41	CTCF	chr2:37253300-37253450	HPAF	blood vessel:	n/a	n/a
42	CTCF	chr2:37253088-37253652	HCT-116	colon:	n/a	n/a
43	CTCF	chr2:37253520-37253670	GM12874	blood:	n/a	n/a
44	CTCF	chr2:37253260-37253410	BE2_C	brain:	n/a	n/a
45	CTCF	chr2:37253260-37253410	RPTEC	kidney:	n/a	n/a
46	CTCF	chr2:37253075-37253840	A549	lung:	n/a	n/a
47	CTCF	chr2:37244466-37244517	MCF-7	breast:	n/a	n/a
48	CTCF	chr2:37253320-37253470	GM12871	blood:	n/a	n/a
49	CTCF	chr2:37253280-37253430	NHLF	lung:	n/a	n/a
50	CTCF	chr2:37253240-37253390	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:37275982..37277521-chr2:37277722..37279319,2	K562	blood:
2	chr2:37263179..37264825-chr2:37269498..37271219,2	K562	blood:
3	chr2:37250519..37253429-chr2:85770477..85772159,2	MCF-7	breast:
4	chr2:37268003..37270548-chr2:37276680..37278983,2	K562	blood:
5	chr2:37266157..37269087-chr2:37341136..37344012,2	K562	blood:
6	chr2:37258831..37261022-chr2:37271777..37274021,2	MCF-7	breast:
7	chr2:37251052..37253037-chr2:37255174..37257744,2	K562	blood:
8	chr2:37263179..37264825-chr2:37269498..37271219,2	K562	blood:
9	chr2:37273282..37277482-chr2:37277722..37281272,4	K562	blood:
10	chr2:37212231..37214849-chr2:37242255..37244987,2	K562	blood:
11	chr2:37275245..37277976-chr2:37283983..37286805,2	K562	blood:
12	chr2:37258831..37261022-chr2:37271777..37274021,2	MCF-7	breast:
13	chr2:37274910..37276585-chr2:37282399..37284618,2	MCF-7	breast:
14	chr2:37237050..37239169-chr2:37241274..37243867,2	K562	blood:
15	chr2:37219829..37222181-chr2:37235362..37237238,2	K562	blood:
16	chr2:37237050..37239169-chr2:37241274..37243867,2	K562	blood:
17	chr2:37275982..37277521-chr2:37277722..37279319,2	K562	blood:
18	chr2:37251052..37253037-chr2:37255174..37257744,2	K562	blood:
19	chr2:37193009..37195682-chr2:37250815..37252662,2	K562	blood:
20	chr2:37192475..37194046-chr2:37274865..37276412,2	K562	blood:
21	chr2:37268003..37270548-chr2:37276680..37278983,2	K562	blood:
22	chr2:37273282..37277482-chr2:37277722..37281272,4	K562	blood:

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

Extended variants
information (count: 1750 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1750 , 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	rs11694342	chr2:37236821-37236822	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149919294	chr2:37236849-37236850	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537881310	chr2:37236862-37236863	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368723692	chr2:37236877-37236878	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2691120	chr2:37236915-37236916	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10208258	chr2:37236916-37236917	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs574639951	chr2:37236918-37236919	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200184336	chr2:37236924-37236925	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10173443	chr2:37236925-37236926	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542404130	chr2:37236959-37236960	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554758877	chr2:37236971-37236972	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117756482	chr2:37236973-37236974	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559889188	chr2:37236993-37236994	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181678899	chr2:37237042-37237043	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532130931	chr2:37237073-37237074	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76557268	chr2:37237078-37237079	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186689723	chr2:37237109-37237110	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554075956	chr2:37237178-37237179	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189997465	chr2:37237197-37237198	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567076434	chr2:37237198-37237199	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527943751	chr2:37237212-37237213	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552818762	chr2:37237280-37237281	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542873491	chr2:37237322-37237323	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561496990	chr2:37237325-37237326	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570836201	chr2:37237337-37237338	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541695274	chr2:37237362-37237363	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182253728	chr2:37237369-37237370	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556180939	chr2:37237373-37237374	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568175411	chr2:37237402-37237403	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535557265	chr2:37237410-37237411	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374049383	chr2:37237434-37237435	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554441335	chr2:37237440-37237441	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10176270	chr2:37237450-37237451	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs186489487	chr2:37237452-37237453	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76354791	chr2:37237550-37237551	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558795793	chr2:37237554-37237555	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140024986	chr2:37237614-37237615	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544184539	chr2:37237634-37237635	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs57533620	chr2:37237637-37237638	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs397970730	chr2:37237643-37237644	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562467415	chr2:37237672-37237673	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs58260329	chr2:37237679-37237680	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529783020	chr2:37237688-37237689	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541924980	chr2:37237693-37237694	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529473194	chr2:37237704-37237705	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190897490	chr2:37237724-37237725	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552543509	chr2:37237735-37237736	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145442163	chr2:37237784-37237785	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184227521	chr2:37237800-37237801	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531892693	chr2:37237807-37237808	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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

Chromatin state (count:1289 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

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	chr2:37223400-37282600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:37223400-37300400	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr2:37224000-37238600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr2:37224000-37256000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:37224000-37270600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:37224600-37248200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:37225200-37239800	Weak transcription	Colonic Mucosa	Colon
17	chr2:37225400-37237000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:37225400-37238800	Strong transcription	Fetal Muscle Leg	muscle
19	chr2:37226200-37237600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:37226800-37256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:37227400-37239600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:37227800-37246000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:37228000-37247200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:37228600-37237000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:37228600-37240600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr2:37228600-37267000	Weak transcription	Stomach Mucosa	stomach
27	chr2:37229800-37251200	Weak transcription	K562	blood
28	chr2:37230000-37239800	Weak transcription	Esophagus	oesophagus
29	chr2:37230000-37242000	Weak transcription	A549	lung
30	chr2:37230400-37238200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:37230400-37239600	Weak transcription	Gastric	stomach
32	chr2:37230400-37239800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:37230400-37245600	Weak transcription	Spleen	Spleen
34	chr2:37230400-37248400	Weak transcription	Right Ventricle	heart
35	chr2:37230600-37239600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:37230800-37238200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:37230800-37239800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:37230800-37248200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr2:37231400-37238600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:37231400-37239800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:37231800-37239800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:37231800-37240000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr2:37232600-37239200	Weak transcription	Brain Anterior Caudate	brain
44	chr2:37232600-37248200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:37232800-37238200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr2:37232800-37239800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:37232800-37239800	Weak transcription	Ovary	ovary
48	chr2:37232800-37239800	Weak transcription	NHLF	lung
49	chr2:37232800-37240600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:37232800-37248400	Weak transcription	Psoas Muscle	Psoas

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