Variant report

Variant	rs899741
Chromosome Location	chr8:61227279-61227280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10092218	0.90[CEU][hapmap];0.91[JPT][hapmap]
rs12542601	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs12543911	0.87[EUR][1000 genomes]
rs12708003	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs13248852	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13271624	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16926002	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16926008	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs1893275	0.95[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap]
rs59550103	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73250004	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7461425	0.87[EUR][1000 genomes]
rs7464602	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7824479	0.95[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv831333	chr8:61102862-61275122	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv10424	chr8:61218121-61227873	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs899741	RAB2A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61225600-61227400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr8:61226000-61227400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:61226200-61228200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:61226400-61227400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:61226400-61227400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:61226400-61227600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:61226400-61228400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:61226600-61228200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:61226600-61232800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:61227200-61228000	Enhancers	HUES64 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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