Variant report

Variant	rs72808236
Chromosome Location	chr2:64113686-64113687
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:64113269-64114192	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr2:64113360-64114219	HepG2	liver:	n/a	n/a
3	FOSL2	chr2:64113395-64114888	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:64113423-64122202	K562	blood:	n/a	n/a
5	POLR2A	chr2:64113411-64113980	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr2:64113274-64117099	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr2:64113616-64114359	HepG2	liver:	n/a	n/a
8	POLR2A	chr2:64113402-64114072	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr2:64113594-64113986	HepG2	liver:	n/a	n/a
10	POLR2A	chr2:64113011-64113852	PFSK-1	brain:	n/a	n/a
11	ATF2	chr2:64113563-64114044	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr2:64113577-64114051	HepG2	liver:	n/a	n/a
13	MXI1	chr2:64113536-64113736	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr2:64113497-64113972	Hela-S3	cervix:	n/a	n/a
15	GTF2F1	chr2:64113682-64113734	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr2:64112249-64114157	HepG2	liver:	n/a	n/a
17	POLR2A	chr2:64113548-64113954	HepG2	liver:	n/a	n/a
18	POLR2A	chr2:64113394-64113986	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:64100029..64102648-chr2:64113034..64115092,3	K562	blood:
2	chr2:64100029..64102701-chr2:64113484..64115928,2	K562	blood:
3	chr2:64108363..64110268-chr2:64112506..64114878,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251775	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10166971	0.86[ASN][1000 genomes]
rs12993544	0.84[ASN][1000 genomes]
rs12999675	0.86[ASN][1000 genomes]
rs1345479	0.83[ASN][1000 genomes]
rs17555655	0.86[ASN][1000 genomes]
rs17620012	0.86[ASN][1000 genomes]
rs2119133	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2287361	0.86[ASN][1000 genomes]
rs34145077	0.88[ASN][1000 genomes]
rs34196086	0.86[ASN][1000 genomes]
rs34200806	0.86[ASN][1000 genomes]
rs35521527	0.86[ASN][1000 genomes]
rs4482470	0.83[ASN][1000 genomes]
rs4671537	0.86[ASN][1000 genomes]
rs66595136	0.86[ASN][1000 genomes]
rs66660401	0.81[ASN][1000 genomes]
rs67962955	0.86[ASN][1000 genomes]
rs72806068	1.00[AFR][1000 genomes]
rs72806087	1.00[AFR][1000 genomes]
rs72808245	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv521717	chr2:64104132-64186582	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64083000-64123000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:64083000-64129200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:64103200-64117400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:64103600-64118600	Weak transcription	Brain Angular Gyrus	brain
5	chr2:64103600-64128400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:64103800-64130400	Weak transcription	Stomach Mucosa	stomach
7	chr2:64105200-64121600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:64105600-64118400	Strong transcription	HepG2	liver
9	chr2:64107200-64130000	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:64107400-64116400	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:64107400-64119000	Strong transcription	HSMMtube	muscle
12	chr2:64107400-64119200	Strong transcription	Primary B cells from cord blood	blood
13	chr2:64107400-64121400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:64107400-64121800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:64107400-64127600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:64107400-64129600	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr2:64107600-64122000	Strong transcription	HSMM	muscle
18	chr2:64107600-64122200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:64107600-64122200	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:64107600-64122200	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr2:64107600-64128800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr2:64107600-64129200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:64107800-64115800	Strong transcription	Fetal Muscle Leg	muscle
24	chr2:64107800-64117600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:64107800-64118800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:64107800-64124600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:64107800-64126200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:64107800-64127000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr2:64108000-64118600	Strong transcription	A549	lung
30	chr2:64108200-64115600	Strong transcription	Liver	Liver
31	chr2:64108200-64120800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:64108200-64121800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr2:64108200-64127200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:64108400-64121400	Strong transcription	HMEC	breast
35	chr2:64108400-64127200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:64108600-64115600	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr2:64108600-64128200	Strong transcription	Primary hematopoietic stem cells	blood
38	chr2:64108800-64121400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:64108800-64121400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:64108800-64121800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:64109000-64113800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:64109000-64122200	Strong transcription	NHDF-Ad	bronchial
43	chr2:64109200-64115800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:64109200-64125800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:64109400-64115200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:64109400-64119000	Strong transcription	Fetal Intestine Large	intestine
47	chr2:64109400-64119600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:64109400-64127000	Strong transcription	Placenta	Placenta
49	chr2:64109400-64129000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr2:64109600-64113800	Strong transcription	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links