Variant report

Variant	rs9489369
Chromosome Location	chr6:118720704-118720705
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	chr6:118720659..118723492-chr6:118725899..118729757,3	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10484289	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10499086	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs12333080	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1319987	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1319988	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13437605	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1630266	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs1690664	1.00[CHB][hapmap]
rs1690667	0.82[CHB][hapmap]
rs17079881	0.82[CHB][hapmap]
rs17080082	0.80[ASN][1000 genomes]
rs17080124	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17080292	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17080302	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17422275	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs17424234	0.88[ASN][1000 genomes]
rs1743257	0.82[CHB][hapmap]
rs1743258	1.00[CHB][hapmap]
rs1743259	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs1889468	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs25422	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28605789	0.85[ASN][1000 genomes]
rs3734345	0.82[CHB][hapmap]
rs3851206	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs3901856	0.82[CHB][hapmap]
rs3904613	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs4593396	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4599686	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55697388	0.85[ASN][1000 genomes]
rs55899435	1.00[ASN][1000 genomes]
rs56130945	0.88[ASN][1000 genomes]
rs56255677	0.80[ASN][1000 genomes]
rs62421532	0.88[ASN][1000 genomes]
rs62421533	0.88[ASN][1000 genomes]
rs62421535	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62421536	0.88[ASN][1000 genomes]
rs62421538	1.00[ASN][1000 genomes]
rs62421539	1.00[ASN][1000 genomes]
rs62422195	0.85[ASN][1000 genomes]
rs62422220	0.85[ASN][1000 genomes]
rs62424172	1.00[ASN][1000 genomes]
rs62424173	1.00[ASN][1000 genomes]
rs62424175	0.88[ASN][1000 genomes]
rs62424176	1.00[ASN][1000 genomes]
rs62424195	1.00[ASN][1000 genomes]
rs62424198	1.00[ASN][1000 genomes]
rs62424199	1.00[ASN][1000 genomes]
rs62424200	1.00[ASN][1000 genomes]
rs62424202	0.88[ASN][1000 genomes]
rs62424204	0.96[ASN][1000 genomes]
rs6924560	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs724868	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs72952733	0.88[ASN][1000 genomes]
rs72952761	1.00[ASN][1000 genomes]
rs72967573	0.80[ASN][1000 genomes]
rs72967581	0.80[ASN][1000 genomes]
rs72969531	1.00[ASN][1000 genomes]
rs7356858	1.00[ASN][1000 genomes]
rs7356947	1.00[ASN][1000 genomes]
rs7453860	0.82[CHB][hapmap]
rs9320652	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9320655	1.00[ASN][1000 genomes]
rs9320656	0.84[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs937275	0.82[CHB][hapmap]
rs9481789	1.00[ASN][1000 genomes]
rs9481808	1.00[ASN][1000 genomes]
rs9481811	1.00[ASN][1000 genomes]
rs9481821	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9481825	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9481826	0.92[ASN][1000 genomes]
rs9481833	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs9489371	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489372	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9489381	1.00[ASN][1000 genomes]
rs9489383	1.00[ASN][1000 genomes]
rs9489399	1.00[ASN][1000 genomes]
rs9489407	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9489409	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9489416	1.00[ASN][1000 genomes]
rs9489428	1.00[ASN][1000 genomes]
rs9489433	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9489436	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9489442	0.92[ASN][1000 genomes]
rs9489447	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9489450	0.85[ASN][1000 genomes]
rs9489452	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9489457	0.84[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9489458	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs9489460	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
2	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv830787	chr6:118631902-118805106	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1025456	chr6:118669672-119058789	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1027444	chr6:118687556-119121660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv538428	chr6:118687556-119121660	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv432958	chr6:118692307-119010307	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv604555	chr6:118695049-118856822	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv1034448	chr6:118698169-119016383	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	nsv1025097	chr6:118699752-119058789	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	nsv1020586	chr6:118711098-118900012	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
14	nsv532052	chr6:118711850-119057295	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv432959	chr6:118716318-119010307	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9489369	FAM26D	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118707400-118729200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:118711200-118729000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:118712000-118727800	Weak transcription	Primary T cells from cord blood	blood
4	chr6:118715800-118731800	Weak transcription	Pancreas	Pancrea
5	chr6:118717400-118721800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:118719000-118722400	Weak transcription	Left Ventricle	heart
7	chr6:118719000-118722400	Weak transcription	Psoas Muscle	Psoas
8	chr6:118719400-118721800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr6:118720000-118720800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:118720000-118722400	Weak transcription	Aorta	Aorta
11	chr6:118720200-118724000	Weak transcription	HSMMtube	muscle

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