Variant report

Variant	rs2285170
Chromosome Location	chr1:172425529-172425530
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:172420977..172423750-chr1:172424535..172427045,4	MCF-7	breast:
2	chr1:172424577..172428179-chr1:172432936..172436008,3	K562	blood:
3	chr1:172407688..172409454-chr1:172424821..172426933,2	K562	blood:
4	chr1:172425095..172427672-chr1:172501670..172503756,3	MCF-7	breast:
5	chr1:172424143..172425875-chr1:172509096..172511619,2	K562	blood:
6	chr1:172424806..172427327-chr1:172442354..172444546,2	K562	blood:
7	chr1:172424634..172428782-chr1:172501344..172503706,6	K562	blood:
8	chr1:172424634..172427242-chr1:172501773..172503661,2	K562	blood:
9	chr1:172424018..172425586-chr1:172428604..172431117,2	MCF-7	breast:
10	chr1:172418680..172423994-chr1:172424179..172427425,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000094975	Chromatin interaction
ENSG00000180999	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1063412	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10752946	0.95[CHB][hapmap]
rs10752957	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs10798005	0.95[CHB][hapmap]
rs11484605	0.81[ASN][1000 genomes]
rs13932	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2157450	0.81[CHB][hapmap]
rs2213740	0.82[CHB][hapmap]
rs2269613	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2269614	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2269615	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2269616	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs2285171	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2285172	0.98[ASN][1000 genomes]
rs2285173	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2285174	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2285175	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2285176	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301455	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2422141	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2901656	0.92[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes]
rs3213563	0.92[ASN][1000 genomes]
rs3937046	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4916186	0.82[AMR][1000 genomes]
rs4916258	0.92[ASN][1000 genomes]
rs60302909	0.89[ASN][1000 genomes]
rs6424923	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6658843	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs6673869	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6674073	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6680035	0.81[CHB][hapmap]
rs6689377	0.98[ASN][1000 genomes]
rs6691993	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs6699095	0.92[CEU][hapmap];0.82[CHB][hapmap];0.84[EUR][1000 genomes]
rs6702667	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs7411767	0.81[ASN][1000 genomes]
rs7516301	0.93[CEU][hapmap];0.90[CHB][hapmap]
rs7550016	0.84[CHB][hapmap]
rs9286858	0.82[CHB][hapmap]
rs929098	0.98[ASN][1000 genomes]
rs9425308	0.90[CHB][hapmap]
rs9425311	0.96[CEU][hapmap];0.95[CHB][hapmap]
rs9425316	0.80[ASN][1000 genomes]
rs9425329	0.81[CHB][hapmap]
rs9425334	0.81[CHB][hapmap]
rs9425598	0.91[CHB][hapmap]
rs9425600	0.95[CHB][hapmap]
rs9425606	0.95[CHB][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2285170	PIGC	cis	Whole Blood	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172419600-172426000	Enhancers	Fetal Intestine Large	intestine
2	chr1:172420200-172426000	Enhancers	Fetal Intestine Small	intestine
3	chr1:172422400-172426800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:172422600-172435400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:172423200-172429000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:172423200-172429200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:172423400-172434600	Weak transcription	HSMMtube	muscle
8	chr1:172423600-172432000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr1:172424400-172425800	Enhancers	K562	blood
10	chr1:172424400-172426400	Enhancers	Pancreas	Pancrea
11	chr1:172424800-172425600	Genic enhancers	Fetal Muscle Leg	muscle
12	chr1:172425200-172425800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:172425400-172425800	Enhancers	Duodenum Mucosa	Duodenum
14	chr1:172425400-172426400	Strong transcription	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links