Variant report

Variant	rs12708370
Chromosome Location	chr12:119802149-119802150
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10774493	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849649	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];0.94[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064769	0.84[ASW][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];1.00[ASN][1000 genomes]
rs11064774	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12099460	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12306000	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12306360	0.84[ASW][hapmap];0.80[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[LWK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306535	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs12314123	1.00[ASN][1000 genomes]
rs12830127	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2285401	1.00[CHB][hapmap]
rs2393547	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs34161061	0.97[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35135358	1.00[ASN][1000 genomes]
rs35143406	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35785729	0.97[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238064	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4767814	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767816	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7296648	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7297109	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv899552	chr12:119733874-119814623	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv916688	chr12:119801814-120044407	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12708370	DYNLL1	cis	parietal	SCAN
rs12708370	COQ5	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119801000-119802800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr12:119801000-119803800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr12:119801000-119803800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:119801200-119802400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:119801200-119802400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:119801200-119807800	Weak transcription	Fetal Heart	heart
7	chr12:119801400-119802800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:119801600-119803000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr12:119801800-119806200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:119801800-119806600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:119802000-119802600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:119802000-119803400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr12:119802000-119803600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:119802000-119804000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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