Variant report

Variant	rs1605997
Chromosome Location	chr8:90668113-90668114
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	chr8:90658491..90660144-chr8:90666581..90669559,2	MCF-7	breast:
2	chr8:90664171..90665978-chr8:90667833..90669514,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1003843	0.81[CEU][hapmap];0.91[MEX][hapmap]
rs10102245	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10108588	0.83[ASN][1000 genomes]
rs10112852	0.81[CEU][hapmap]
rs1032516	0.89[ASN][1000 genomes]
rs1040327	0.89[ASN][1000 genomes]
rs10956209	0.89[ASN][1000 genomes]
rs12216864	0.89[ASN][1000 genomes]
rs12545569	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12675281	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1397308	1.00[CEU][hapmap];0.98[GIH][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1603289	0.91[ASN][1000 genomes]
rs1605996	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs184302	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2101854	0.89[ASN][1000 genomes]
rs218882	0.86[ASN][1000 genomes]
rs218885	0.88[ASN][1000 genomes]
rs218887	0.88[ASN][1000 genomes]
rs218890	0.88[ASN][1000 genomes]
rs218895	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs218899	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs218900	0.84[CEU][hapmap];0.95[CHB][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218901	0.84[CEU][hapmap];0.95[CHB][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218902	0.84[CEU][hapmap];0.95[CHB][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218903	0.84[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.91[TSI][hapmap]
rs218907	0.81[CEU][hapmap]
rs218908	0.81[CEU][hapmap]
rs218913	0.81[CEU][hapmap];0.83[MEX][hapmap]
rs218916	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs218929	0.81[CEU][hapmap];0.83[MEX][hapmap]
rs218944	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs218946	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs218947	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs218948	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28374917	0.89[ASN][1000 genomes]
rs2840206	0.88[ASN][1000 genomes]
rs2935115	0.80[AMR][1000 genomes]
rs34036322	0.90[ASN][1000 genomes]
rs383592	0.82[MEX][hapmap]
rs39499	0.81[CEU][hapmap]
rs39500	0.81[CEU][hapmap]
rs39503	0.91[MEX][hapmap]
rs39506	0.81[CEU][hapmap];0.96[MEX][hapmap]
rs39761	0.81[CEU][hapmap]
rs402886	0.81[CEU][hapmap]
rs40452	0.81[CEU][hapmap]
rs40453	0.96[MEX][hapmap]
rs40638	0.83[MEX][hapmap]
rs411279	0.87[MEX][hapmap]
rs416324	0.87[MEX][hapmap]
rs42346	0.83[MEX][hapmap]
rs42490	0.81[CEU][hapmap]
rs43134	0.81[CEU][hapmap];0.91[MEX][hapmap]
rs43225	0.81[CEU][hapmap]
rs447618	0.80[CEU][hapmap];0.96[MEX][hapmap]
rs4961154	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4961155	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4961157	0.83[ASN][1000 genomes]
rs4961158	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56291556	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56403153	0.88[ASN][1000 genomes]
rs7018416	0.85[CHB][hapmap];0.81[CHD][hapmap]
rs7824932	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465735	chr8:89760311-90729507	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv611714	chr8:89760311-90729507	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv870380	chr8:90546585-90720182	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1028026	chr8:90553930-90678631	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv982109	chr8:90556188-90703631	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1026523	chr8:90558935-90722580	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv831389	chr8:90575517-90753120	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv1017263	chr8:90605445-90722580	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1605997	RIPK2	cis	cerebellum	SCAN
rs1605997	RP11-37B2.1	cis	Adipose Subcutaneous	GTEx
rs1605997	RIPK2	cis	parietal	SCAN
rs1605997	RP11-37B2.1	cis	Skin Sun Exposed Lower leg	GTEx
rs1605997	TMEM64	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90665200-90675200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links