Variant report

Variant	rs1551939
Chromosome Location	chr5:58431386-58431387
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10055095	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10062340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10062397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1038080	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12654485	0.88[CEU][hapmap]
rs1559251	0.85[CHB][hapmap]
rs16877156	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2409628	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs33927508	0.88[CEU][hapmap]
rs35728243	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4700321	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6450506	0.90[CHB][hapmap]
rs6450507	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs716908	0.90[CHB][hapmap]
rs7707392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7730574	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs922435	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs922437	0.84[ASN][1000 genomes]
rs997421	1.00[CEU][hapmap];0.90[CHB][hapmap];0.98[AMR][1000 genomes];0.98[EUR][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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58424000-58439800	Weak transcription	Small Intestine	intestine
2	chr5:58424000-58447000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:58424200-58432800	Weak transcription	Right Ventricle	heart
4	chr5:58424200-58446200	Weak transcription	Fetal Intestine Large	intestine
5	chr5:58424200-58446600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:58424400-58431400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:58427200-58454000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr5:58428800-58435800	Weak transcription	Fetal Heart	heart
9	chr5:58429800-58433800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:58429800-58447200	Weak transcription	Left Ventricle	heart
11	chr5:58430000-58432600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr5:58430000-58434400	Weak transcription	Psoas Muscle	Psoas
13	chr5:58430000-58437000	Weak transcription	Colon Smooth Muscle	Colon
14	chr5:58430000-58442600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:58430400-58432600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr5:58430600-58432600	Enhancers	A549	lung
17	chr5:58430800-58431600	Enhancers	Aorta	Aorta
18	chr5:58431000-58432800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:58431000-58440000	Weak transcription	Fetal Lung	lung
20	chr5:58431200-58431800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr5:58431200-58432200	Weak transcription	Hela-S3	cervix
22	chr5:58431200-58435200	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr5:58431200-58437400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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