Variant report

Variant	rs2047541
Chromosome Location	chr1:197830838-197830839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197827949..197829733-chr1:197829905..197832010,2	MCF-7	breast:
2	chr1:197822978..197825058-chr1:197829102..197831740,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1039287	0.87[EUR][1000 genomes]
rs1039288	0.87[EUR][1000 genomes]
rs10922308	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10922309	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10922310	0.95[EUR][1000 genomes]
rs10922311	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10922312	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10922314	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10922325	1.00[JPT][hapmap]
rs11800139	0.87[EUR][1000 genomes]
rs11801596	1.00[ASN][1000 genomes]
rs11803693	1.00[ASN][1000 genomes]
rs11803984	1.00[ASN][1000 genomes]
rs11804036	1.00[ASN][1000 genomes]
rs11805085	1.00[ASN][1000 genomes]
rs11805260	1.00[ASN][1000 genomes]
rs11806071	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11806604	1.00[ASN][1000 genomes]
rs11808449	1.00[ASN][1000 genomes]
rs11810052	1.00[ASN][1000 genomes]
rs12062450	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12079525	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1499601	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16841846	1.00[ASN][1000 genomes]
rs16841893	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16841969	1.00[ASN][1000 genomes]
rs16841983	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16842055	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17567921	1.00[CEU][hapmap]
rs17641842	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap]
rs2047540	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35432263	1.00[ASN][1000 genomes]
rs41418447	1.00[ASN][1000 genomes]
rs6661330	1.00[CEU][hapmap]
rs74137403	0.98[EUR][1000 genomes]
rs74137406	0.95[EUR][1000 genomes]
rs74137408	0.95[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	nsv999662	chr1:197821769-197892803	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
2	esv2762214	chr1:197821769-197897496	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
3	nsv1004130	chr1:197822757-197879728	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2047541	RGS1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197830800-197838000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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