Variant report

Variant	rs981013
Chromosome Location	chr12:41836839-41836840
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1026463	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10506195	0.84[CEU][hapmap];0.88[MEX][hapmap]
rs10735995	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10785263	0.91[JPT][hapmap]
rs11180878	0.81[JPT][hapmap]
rs11610969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611727	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.82[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12811069	0.83[CEU][hapmap]
rs12812128	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822018	0.89[MEX][hapmap]
rs12823312	0.84[CEU][hapmap]
rs1350432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1379779	0.84[CEU][hapmap]
rs1458170	0.89[MEX][hapmap]
rs1458176	0.81[JPT][hapmap]
rs1598893	0.89[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17129378	0.82[TSI][hapmap]
rs17129392	0.87[CEU][hapmap]
rs17129427	0.84[CEU][hapmap];0.89[MEX][hapmap]
rs17577127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902905	0.89[MEX][hapmap]
rs1902910	0.84[CEU][hapmap];0.90[CHB][hapmap]
rs7956499	0.82[ASN][1000 genomes]
rs7957823	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832383	chr12:41693298-41846934	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
2	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1037987	chr12:41815867-41840251	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs981013	ABCD2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41829600-41860600	Weak transcription	Aorta	Aorta
2	chr12:41831400-41838400	Active TSS	Brain Germinal Matrix	brain
3	chr12:41833800-41837600	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:41834000-41837000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:41834000-41837800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:41834000-41838000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:41836400-41837400	Enhancers	Fetal Brain Male	brain
8	chr12:41836400-41838200	Enhancers	Colon Smooth Muscle	Colon
9	chr12:41836800-41837000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:41836800-41837000	Enhancers	Brain Substantia Nigra	brain
11	chr12:41836800-41837400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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