Variant report

Variant	rs1902003
Chromosome Location	chr7:124864096-124864097
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1026836	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs1026839	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs10269342	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs1031955	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1086964	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11768552	0.83[ASN][1000 genomes]
rs11975363	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs12534466	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs13226465	0.80[ASN][1000 genomes]
rs13234368	0.80[CHB][hapmap];0.93[JPT][hapmap]
rs13234634	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs1383749	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs1383750	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs1404898	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs1427579	0.87[ASN][1000 genomes]
rs1454126	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1481337	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs1481338	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs1728929	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1728930	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17329822	0.80[ASN][1000 genomes]
rs17388970	0.80[ASN][1000 genomes]
rs1871771	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs2003139	0.83[ASN][1000 genomes]
rs2402763	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2968865	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs585608	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs589823	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs606229	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs607260	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs616697	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs628365	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs632459	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs635682	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs636161	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs6466989	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs648619	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs651869	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs659987	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs662165	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs665753	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs676037	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs683707	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs684345	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs685909	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs6952915	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs6957121	0.80[ASN][1000 genomes]
rs6969306	0.83[ASN][1000 genomes]
rs6977313	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7797428	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7810705	0.81[ASN][1000 genomes]
rs792616	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs792627	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs792628	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs900047	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs952001	0.83[ASN][1000 genomes]
rs952002	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3394090	chr7:124602150-124900799	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831119	chr7:124714009-124890119	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv2422188	chr7:124782873-125254203	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1029627	chr7:124810399-124901651	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2761087	chr7:124823624-125429662	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3352977	chr7:124863816-124866914	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1902003	RP11-3B12.1	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124862200-124864400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr7:124862400-124866200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr7:124863000-124864200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:124863200-124864600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:124863400-124864200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr7:124863600-124864200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:124863800-124864200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr7:124864000-124864200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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