Variant report

Variant	rs6690557
Chromosome Location	chr1:209768979-209768980
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209760979..209762618-chr1:209766680..209769028,3	K562	blood:
2	chr1:209767901..209769876-chr1:209773367..209775304,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10489338	0.95[CHB][hapmap]
rs11119309	0.95[CHB][hapmap]
rs11119312	0.82[EUR][1000 genomes]
rs11576233	0.82[EUR][1000 genomes]
rs11587591	0.82[CEU][hapmap];0.85[GIH][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs11589826	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12058586	0.95[CHB][hapmap];0.81[CHD][hapmap]
rs12119742	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12144092	0.82[EUR][1000 genomes]
rs17014825	0.83[CHB][hapmap]
rs2072908	0.85[CHB][hapmap]
rs2076225	0.84[CHB][hapmap]
rs2076229	0.96[ASN][1000 genomes]
rs35913818	0.82[EUR][1000 genomes]
rs713075	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs7512091	0.80[CHB][hapmap]
rs7528698	0.82[CEU][hapmap];0.85[GIH][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs7532726	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs7533785	0.81[JPT][hapmap]
rs7541562	0.82[EUR][1000 genomes]
rs9429817	0.80[EUR][1000 genomes]
rs9429818	0.87[ASW][hapmap];0.82[CEU][hapmap];0.82[GIH][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs9429820	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9429821	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.80[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9429998	0.83[EUR][1000 genomes]
rs9429999	0.86[EUR][1000 genomes]
rs9430000	0.95[CHB][hapmap]
rs9430001	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9430002	0.98[ASN][1000 genomes]
rs9430003	0.96[AFR][1000 genomes];0.96[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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6690557	CAMK1G	cis	parietal	SCAN
rs6690557	RP1-272L16.1	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209760600-209776400	Weak transcription	Fetal Lung	lung
2	chr1:209764200-209776600	Weak transcription	Ovary	ovary
3	chr1:209764200-209780400	Weak transcription	Fetal Brain Male	brain
4	chr1:209764600-209791200	Weak transcription	Brain Anterior Caudate	brain
5	chr1:209765400-209776800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:209768000-209773800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:209768400-209769800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:209768800-209769600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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