Variant report

Variant	rs34970073
Chromosome Location	chr8:90837362-90837363
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10094579	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11989430	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12155807	0.97[EUR][1000 genomes]
rs13278954	0.97[EUR][1000 genomes]
rs13280951	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16900888	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16901016	0.83[EUR][1000 genomes]
rs2189025	0.89[EUR][1000 genomes]
rs2338882	1.00[EUR][1000 genomes]
rs28405481	0.99[EUR][1000 genomes]
rs28461337	0.87[EUR][1000 genomes]
rs28528187	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34525502	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34699769	0.96[EUR][1000 genomes]
rs35183880	0.83[EUR][1000 genomes]
rs62530862	0.86[EUR][1000 genomes]
rs62530908	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6984540	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891182	chr8:90785685-90888786	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv520356	chr8:90823687-90857989	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv968495	chr8:90835687-90842298	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34970073	RIPK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90828000-90845800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:90836400-90837800	Enhancers	Fetal Intestine Large	intestine
3	chr8:90836600-90837400	Enhancers	Fetal Intestine Small	intestine
4	chr8:90836600-90837400	Flanking Active TSS	HepG2	liver
5	chr8:90836600-90837600	Enhancers	Stomach Mucosa	stomach
6	chr8:90836800-90837600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:90836800-90838200	Enhancers	A549	lung
8	chr8:90836800-90838400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:90836800-90839000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:90837000-90837400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr8:90837000-90837800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:90837000-90838200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:90837000-90838200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:90837000-90838200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:90837000-90839000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:90837000-90847600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:90837200-90838200	Weak transcription	Pancreas	Pancrea
18	chr8:90837200-90838400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr8:90837200-90844600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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