Variant report

Variant	rs10067219
Chromosome Location	chr5:127095999-127096000
allele	C/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:27)

rs_ID	r²[population]
rs1002214	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10044507	1.00[ASN][1000 genomes]
rs10066288	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1067705	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1086479	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1092294	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1213745	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13155734	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1356121	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1432641	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1432642	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1464132	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1616107	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2673770	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6867166	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6878186	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs711361	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs711369	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7729013	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs790829	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs790834	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs790839	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs790840	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs790841	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs796919	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs806464	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs810996	0.84[AMR][1000 genomes];0.92[EUR][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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv830480	chr5:126964751-127124522	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127090200-127097000	Weak transcription	Fetal Lung	lung
2	chr5:127090800-127102400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:127093800-127096600	Weak transcription	Brain Hippocampus Middle	brain
4	chr5:127093800-127098000	Weak transcription	Small Intestine	intestine
5	chr5:127093800-127098200	Weak transcription	Psoas Muscle	Psoas
6	chr5:127094000-127096600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr5:127094000-127098000	Weak transcription	Brain Angular Gyrus	brain
8	chr5:127094000-127101800	Weak transcription	HUVEC	blood vessel
9	chr5:127094400-127097800	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:127095000-127096800	Weak transcription	Brain Substantia Nigra	brain
11	chr5:127095000-127098200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr5:127095200-127097800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:127095200-127102800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:127095400-127096400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:127095400-127096800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:127095600-127097800	Weak transcription	Rectal Smooth Muscle	rectum

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