Variant report

Variant	rs4451572
Chromosome Location	chr1:57112632-57112633
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10749709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10889001	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10889002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10889003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11206875	0.81[ASN][1000 genomes]
rs11206879	0.82[ASN][1000 genomes]
rs11206891	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12119770	0.94[ASN][1000 genomes]
rs12134054	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12138351	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12402675	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12405291	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12757089	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12759063	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2051040	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2143749	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2746342	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2746344	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2796542	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4561065	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4912408	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4912411	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6588645	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6588646	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6588647	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6663750	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6676950	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6688242	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6688263	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57109800-57113200	Active TSS	Right Atrium	heart
2	chr1:57109800-57114600	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr1:57110000-57113200	Active TSS	Stomach Smooth Muscle	stomach
4	chr1:57110000-57113400	Active TSS	Right Ventricle	heart
5	chr1:57110200-57113000	Active TSS	Fetal Heart	heart
6	chr1:57111400-57113000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:57111800-57113000	Active TSS	Fetal Kidney	kidney
8	chr1:57111800-57113200	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr1:57112000-57112800	Active TSS	HepG2	liver
10	chr1:57112000-57113000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:57112000-57117400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:57112000-57119800	Weak transcription	HUVEC	blood vessel
13	chr1:57112200-57112800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:57112200-57112800	Enhancers	Colon Smooth Muscle	Colon
15	chr1:57112200-57112800	Flanking Active TSS	Hela-S3	cervix
16	chr1:57112200-57112800	Active TSS	NHLF	lung
17	chr1:57112200-57113600	Enhancers	Fetal Stomach	stomach
18	chr1:57112600-57112800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
19	chr1:57112600-57112800	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr1:57112600-57112800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr1:57112600-57112800	Flanking Active TSS	A549	lung
22	chr1:57112600-57112800	Bivalent Enhancer	NHDF-Ad	bronchial
23	chr1:57112600-57113400	Enhancers	Rectal Smooth Muscle	rectum
24	chr1:57112600-57115000	Weak transcription	Left Ventricle	heart
25	chr1:57112600-57121200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:57112600-57121800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links