Variant report

Variant	rs2285172
Chromosome Location	chr1:172424129-172424130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:172423159..172425302-chr1:172434967..172437854,2	K562	blood:
2	chr1:172424018..172425586-chr1:172428604..172431117,2	MCF-7	breast:
3	chr1:172422603..172424142-chr1:172686598..172688545,2	K562	blood:
4	chr1:172423456..172425141-chr1:172439304..172441807,2	MCF-7	breast:
5	chr1:172416845..172420491-chr1:172421660..172424212,3	MCF-7	breast:
6	chr1:172412087..172424934-chr1:172497120..172505334,59	MCF-7	breast:
7	chr1:172422534..172424842-chr1:172429005..172432418,3	K562	blood:

Variant related genes	Relation type
ENSG00000094975	Chromatin interaction
ENSG00000180999	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1063412	0.95[ASN][1000 genomes]
rs10752946	0.80[ASN][1000 genomes]
rs10752957	0.83[ASN][1000 genomes]
rs11484605	0.83[ASN][1000 genomes]
rs13932	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1894634	0.82[EUR][1000 genomes]
rs2097500	0.82[EUR][1000 genomes]
rs2157450	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2213740	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2269613	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2269614	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2269615	0.98[ASN][1000 genomes]
rs2269616	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2285170	0.98[ASN][1000 genomes]
rs2285171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2285173	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2285174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2285175	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2285176	1.00[ASN][1000 genomes]
rs2301455	1.00[ASN][1000 genomes]
rs2422141	0.83[ASN][1000 genomes]
rs3213563	0.95[ASN][1000 genomes]
rs3937046	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4916186	0.82[ASN][1000 genomes]
rs4916258	0.95[ASN][1000 genomes]
rs60302909	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60821093	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6424923	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6658843	0.83[ASN][1000 genomes]
rs6669286	0.86[EUR][1000 genomes]
rs6673869	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6674073	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6680035	0.86[EUR][1000 genomes]
rs6689377	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6690191	0.86[EUR][1000 genomes]
rs6702667	0.82[ASN][1000 genomes]
rs7411767	0.83[ASN][1000 genomes]
rs7516301	0.80[ASN][1000 genomes]
rs7550016	0.85[EUR][1000 genomes]
rs9286858	0.82[EUR][1000 genomes]
rs929098	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9425308	0.80[ASN][1000 genomes]
rs9425311	0.81[ASN][1000 genomes]
rs9425313	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9425316	0.82[ASN][1000 genomes]
rs9425329	0.82[EUR][1000 genomes]
rs9425334	0.82[EUR][1000 genomes]
rs9425598	0.80[ASN][1000 genomes]
rs9425600	0.81[ASN][1000 genomes]
rs9425601	0.81[ASN][1000 genomes]
rs9425602	0.80[ASN][1000 genomes]
rs9425604	0.80[ASN][1000 genomes]
rs9425606	0.82[ASN][1000 genomes]
rs9425619	0.82[AMR][1000 genomes];0.86[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	nsv947449	chr1:172419586-172424910	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172419600-172426000	Enhancers	Fetal Intestine Large	intestine
2	chr1:172419800-172424400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr1:172420200-172426000	Enhancers	Fetal Intestine Small	intestine
4	chr1:172420400-172425400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:172422400-172424400	Weak transcription	Pancreas	Pancrea
6	chr1:172422400-172426800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:172422600-172435400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:172423200-172424400	Weak transcription	K562	blood
9	chr1:172423200-172425000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:172423200-172429000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:172423200-172429200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:172423400-172434600	Weak transcription	HSMMtube	muscle
13	chr1:172423600-172432000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:172424000-172424800	Enhancers	Fetal Muscle Leg	muscle
15	chr1:172424000-172425400	Weak transcription	Fetal Muscle Trunk	muscle

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