Variant report

Variant	rs617881
Chromosome Location	chr9:21383193-21383194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10738591	0.85[CEU][hapmap]
rs10964957	0.85[CEU][hapmap]
rs1330314	0.85[CEU][hapmap]
rs1424854	0.85[CEU][hapmap]
rs16938392	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs2988573	0.80[EUR][1000 genomes]
rs2988574	0.82[EUR][1000 genomes]
rs2990140	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs2990141	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3758236	0.85[CEU][hapmap]
rs4582643	0.85[CEU][hapmap]
rs4978114	0.92[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs583396	0.80[EUR][1000 genomes]
rs596180	0.92[CEU][hapmap]
rs604762	0.92[CEU][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs612966	0.85[CEU][hapmap]
rs614541	0.85[CEU][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs615544	1.00[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs625082	0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs637700	0.80[EUR][1000 genomes]
rs637949	0.92[CEU][hapmap];0.80[TSI][hapmap]
rs647167	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs653778	0.85[EUR][1000 genomes]
rs662831	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs674189	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs681680	0.80[EUR][1000 genomes]
rs7031048	0.85[CEU][hapmap]

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	nsv892724	chr9:20690244-21517302	Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
2	nsv892736	chr9:21327141-21391698	Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv892737	chr9:21352862-21408824	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2752289	chr9:21361957-21499624	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv892738	chr9:21371264-21413085	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs617881	KLHL9	cis	multi-tissue	Pritchard
rs617881	KLHL9	cis	lymphoblastoid	seeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21381400-21386000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:21382000-21385200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr9:21382000-21386400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr9:21382200-21383400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr9:21382200-21383400	Weak transcription	Hela-S3	cervix
6	chr9:21382200-21383600	Weak transcription	Ovary	ovary
7	chr9:21382200-21385200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:21382200-21386800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:21382400-21383400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr9:21382600-21383400	Enhancers	GM12878-XiMat	blood
11	chr9:21382600-21383600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr9:21382800-21383200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:21383000-21383400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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