Variant report

Variant	rs2432742
Chromosome Location	chr8:113825058-113825059
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10081489	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10106945	1.00[ASN][1000 genomes]
rs10216505	1.00[ASN][1000 genomes]
rs12334432	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13261060	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1549354	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs17652171	0.88[CHB][hapmap];0.88[JPT][hapmap];0.82[MEX][hapmap]
rs1991136	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1991137	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2113666	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2161925	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2194598	0.85[ASN][1000 genomes]
rs231279	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs231281	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs231286	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs231316	0.86[GIH][hapmap]
rs2355821	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs2432737	0.89[JPT][hapmap]
rs2432738	0.89[JPT][hapmap]
rs2432739	0.89[JPT][hapmap]
rs2446470	0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs2446471	0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs2446472	0.89[JPT][hapmap]
rs2511531	0.89[JPT][hapmap]
rs2511532	0.89[JPT][hapmap]
rs2511534	0.86[GIH][hapmap];0.89[JPT][hapmap]
rs4567066	0.89[JPT][hapmap]
rs4876480	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap]
rs57897007	0.80[ASN][1000 genomes]
rs61291053	0.82[ASN][1000 genomes]
rs61584754	0.87[ASN][1000 genomes]
rs6999481	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7004983	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7005129	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs72678452	0.80[ASN][1000 genomes]
rs72678454	0.80[ASN][1000 genomes]
rs72680285	0.87[ASN][1000 genomes]
rs73700769	0.80[ASN][1000 genomes]
rs7817596	0.90[CHB][hapmap];1.00[ASN][1000 genomes]
rs7817836	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7832050	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs889987	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9297478	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9297479	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9297480	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][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	esv2753595	chr8:113283214-114190390	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv534270	chr8:113585830-113979075	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
3	esv2754315	chr8:113736824-114048824	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv524089	chr8:113761143-113852777	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv891326	chr8:113777669-114091732	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2432742	PKHD1L1	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113819800-113825600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:113822400-113825400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr8:113822600-113825400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:113822800-113825200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:113822800-113825400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:113822800-113825400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:113822800-113825600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:113823000-113825600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:113824200-113826400	Enhancers	Fetal Intestine Small	intestine
10	chr8:113824200-113826800	Enhancers	Fetal Intestine Large	intestine
11	chr8:113824400-113825200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:113824400-113825800	Enhancers	Fetal Lung	lung
13	chr8:113824600-113825400	Enhancers	Small Intestine	intestine
14	chr8:113824600-113826000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:113824800-113825200	Enhancers	Duodenum Mucosa	Duodenum
16	chr8:113824800-113825800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr8:113824800-113828000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:113825000-113825400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr8:113825000-113825400	Weak transcription	Stomach Mucosa	stomach
20	chr8:113825000-113825600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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