Variant report

Variant	rs1025438
Chromosome Location	chr11:8905461-8905462
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8903715..8906519-chr11:8925903..8928507,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10769977	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs10840156	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs12288224	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12296005	1.00[ASW][hapmap];0.85[JPT][hapmap];1.00[MKK][hapmap];0.83[AFR][1000 genomes]
rs12794962	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs12798311	0.86[ASN][1000 genomes]
rs1347016	0.80[ASN][1000 genomes]
rs2016844	0.91[CHD][hapmap];0.85[JPT][hapmap]
rs2056903	0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2116510	0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2116511	0.92[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2163625	0.85[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap]
rs2246878	0.85[ASN][1000 genomes]
rs2247038	0.85[ASN][1000 genomes]
rs2316541	0.82[ASN][1000 genomes]
rs2568034	0.86[JPT][hapmap]
rs2568042	0.86[CHD][hapmap];0.86[JPT][hapmap]
rs2568047	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs2568069	0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2568074	0.85[ASN][1000 genomes]
rs2568075	0.85[ASN][1000 genomes]
rs2568077	0.85[ASN][1000 genomes]
rs2568079	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2568081	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2568086	0.80[ASN][1000 genomes]
rs2568087	0.80[ASN][1000 genomes]
rs2653556	0.86[CHD][hapmap];0.86[JPT][hapmap]
rs2653565	0.86[CHD][hapmap];0.86[JPT][hapmap]
rs2653590	0.80[ASN][1000 genomes]
rs2653601	0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2653604	0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2653611	0.83[ASN][1000 genomes]
rs2742486	0.80[ASN][1000 genomes]
rs2742487	0.92[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2742488	0.92[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2742491	0.92[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2742493	0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2742495	0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2742496	0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2742497	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2742504	0.83[ASN][1000 genomes]
rs2742505	0.83[ASN][1000 genomes]
rs2742512	0.85[ASN][1000 genomes]
rs2742513	0.85[ASN][1000 genomes]
rs2742514	0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2742519	0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2742521	0.86[JPT][hapmap]
rs3751058	0.87[GIH][hapmap]
rs3794150	0.87[GIH][hapmap]
rs3829273	0.87[GIH][hapmap]
rs4370967	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs72851596	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72852783	0.82[EUR][1000 genomes]
rs72852790	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72853712	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs909464	0.84[ASN][1000 genomes]
rs982273	0.86[JPT][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	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1025438	CYB5R2	cis	parietal	SCAN
rs1025438	TMEM9B	Cis_1M	lymphoblastoid	RTeQTL
rs1025438	MRVI1	cis	parietal	SCAN
rs1025438	TMEM9B	cis	cerebellum	SCAN
rs1025438	APBB1	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8892800-8906600	Weak transcription	Spleen	Spleen
2	chr11:8901000-8908000	Weak transcription	Psoas Muscle	Psoas
3	chr11:8904000-8908000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr11:8904400-8906200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:8905000-8906200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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