Variant report

Variant	rs859449
Chromosome Location	chr1:175370293-175370294
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	chr1:175369983..175371876-chr1:175374861..175376398,2	K562	blood:

Variant related genes	Relation type
ENSG00000116147	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10489318	0.81[EUR][1000 genomes]
rs1351963	0.80[CEU][hapmap]
rs1485381	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2236879	0.80[CEU][hapmap]
rs2285145	0.81[EUR][1000 genomes]
rs2629486	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2629487	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2859039	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2859043	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3752517	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652086	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6703830	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs704813	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859398	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs859399	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs859401	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs859402	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859403	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859404	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859408	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859423	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs859424	0.87[EUR][1000 genomes]
rs859425	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs859426	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs859427	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs859429	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs859430	0.85[EUR][1000 genomes]
rs859431	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs859432	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs859434	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs859438	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs859440	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859441	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859442	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859443	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859444	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859466	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs859469	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs860903	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs860904	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs861469	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs863986	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949473	chr1:175151666-175391741	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv831948	chr1:175229631-175407303	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175368800-175370600	Enhancers	Fetal Stomach	stomach
2	chr1:175369000-175370400	Enhancers	Fetal Brain Male	brain
3	chr1:175369000-175370600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:175369200-175370400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr1:175369200-175370400	Enhancers	Ovary	ovary
6	chr1:175369600-175370400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:175369600-175370400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:175369600-175370600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:175369600-175370600	Enhancers	Brain Cingulate Gyrus	brain
10	chr1:175369600-175370600	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr1:175369800-175370400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:175369800-175370400	Enhancers	Brain Anterior Caudate	brain
13	chr1:175369800-175370400	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr1:175370000-175370600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr1:175370000-175375400	Weak transcription	Pancreas	Pancrea
16	chr1:175370000-175376200	Weak transcription	Fetal Brain Female	brain
17	chr1:175370000-175390200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:175370200-175370600	Enhancers	Brain Angular Gyrus	brain

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