Variant report

Variant	rs12120377
Chromosome Location	chr1:185219992-185219993
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185217953..185220415-chr1:185284645..185286445,2	K562	blood:
2	chr1:185217201..185220197-chr1:185235782..185237394,2	K562	blood:

Variant related genes	Relation type
ENSG00000116679	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10218496	0.96[EUR][1000 genomes]
rs10453829	0.81[EUR][1000 genomes]
rs10489579	0.81[EUR][1000 genomes]
rs10798002	0.82[ASN][1000 genomes]
rs10911693	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12024023	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12041704	0.83[ASN][1000 genomes]
rs12045671	0.80[EUR][1000 genomes]
rs12096987	0.96[EUR][1000 genomes]
rs12118722	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12119471	0.98[EUR][1000 genomes]
rs12127840	0.98[EUR][1000 genomes]
rs12135172	0.98[EUR][1000 genomes]
rs12141722	0.82[AMR][1000 genomes]
rs1336752	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1415072	0.81[EUR][1000 genomes]
rs1591585	0.85[EUR][1000 genomes]
rs1969750	0.81[EUR][1000 genomes]
rs2025227	0.80[EUR][1000 genomes]
rs2050566	0.81[EUR][1000 genomes]
rs2146328	0.81[EUR][1000 genomes]
rs2378909	0.82[ASN][1000 genomes]
rs2378910	0.84[ASN][1000 genomes]
rs2383269	0.96[EUR][1000 genomes]
rs3766717	0.86[EUR][1000 genomes]
rs57731138	0.85[EUR][1000 genomes]
rs6424974	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6660169	0.82[EUR][1000 genomes]
rs6666742	0.98[EUR][1000 genomes]
rs6670117	0.80[EUR][1000 genomes]
rs6673303	0.84[EUR][1000 genomes]
rs6685627	0.83[ASN][1000 genomes]
rs6698109	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6698122	0.81[EUR][1000 genomes]
rs7512245	0.96[EUR][1000 genomes]
rs7522617	0.81[EUR][1000 genomes]
rs7533198	0.81[EUR][1000 genomes]
rs7535064	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535261	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7539658	0.98[EUR][1000 genomes]
rs7543962	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7550586	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7550599	0.92[EUR][1000 genomes]
rs7552662	0.83[EUR][1000 genomes]
rs7553819	0.87[EUR][1000 genomes]
rs7556183	0.81[EUR][1000 genomes]
rs883753	0.84[ASN][1000 genomes]
rs951428	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185192600-185221000	Weak transcription	Fetal Intestine Small	intestine
2	chr1:185193800-185220400	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:185193800-185263600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:185197600-185220400	Weak transcription	Ovary	ovary
5	chr1:185210600-185250400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:185214600-185229400	Weak transcription	NHDF-Ad	bronchial
7	chr1:185218800-185269400	Weak transcription	Pancreas	Pancrea
8	chr1:185219600-185226000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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