Variant report

Variant	rs72718734
Chromosome Location	chr1:85322893-85322894
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55800555	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56377436	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72716999	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9324142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830448	chr1:85294094-85491110	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85289400-85330800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr1:85313000-85332800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:85313600-85330600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:85313600-85357200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:85314000-85330400	Weak transcription	Pancreas	Pancrea
6	chr1:85314600-85328400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:85315600-85336400	Weak transcription	Right Ventricle	heart
8	chr1:85319400-85336400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:85319600-85323200	Enhancers	Fetal Heart	heart
10	chr1:85320600-85354800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:85320800-85323200	Enhancers	Fetal Brain Male	brain
12	chr1:85320800-85324200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:85320800-85326000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:85320800-85327200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:85321000-85324400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:85321000-85324400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:85321000-85327000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:85321000-85342800	Weak transcription	Right Atrium	heart
19	chr1:85321200-85324200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr1:85321400-85324200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr1:85321400-85324200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:85321600-85327000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:85321800-85323800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:85321800-85324200	Weak transcription	GM12878-XiMat	blood
25	chr1:85321800-85324200	Weak transcription	NHEK	skin
26	chr1:85321800-85332400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:85322000-85323800	Strong transcription	HMEC	breast
28	chr1:85322000-85324200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:85322000-85325000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:85322200-85325600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:85322200-85326200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:85322400-85323200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:85322800-85323600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:85322800-85324000	Weak transcription	Left Ventricle	heart
35	chr1:85322800-85355800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links