Variant report

Variant	rs10849649
Chromosome Location	chr12:119817228-119817229
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:119816571..119818940-chr12:119824942..119826666,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10774493	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064769	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];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];1.00[CHB][hapmap];0.92[GIH][hapmap];0.84[TSI][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306535	1.00[CHB][hapmap];0.87[YRI][hapmap];1.00[ASN][1000 genomes]
rs12314123	1.00[ASN][1000 genomes]
rs12708370	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]
rs12830127	1.00[ASN][1000 genomes]
rs2285401	1.00[CHB][hapmap]
rs2393547	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs34161061	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35135358	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35143406	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35785729	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238064	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767814	1.00[CHB][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.87[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	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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
rs10849649	DYNLL1	cis	parietal	SCAN
rs10849649	COQ5	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119811400-119819600	Weak transcription	Lung	lung
2	chr12:119815400-119817400	Enhancers	Fetal Lung	lung
3	chr12:119815800-119819400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:119816000-119817400	Enhancers	Left Ventricle	heart
5	chr12:119816400-119817400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr12:119816400-119817400	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr12:119816600-119817400	Enhancers	Right Ventricle	heart
8	chr12:119816600-119817600	Enhancers	Colon Smooth Muscle	Colon
9	chr12:119816800-119817600	Flanking Active TSS	Fetal Heart	heart
10	chr12:119817200-119818800	Weak transcription	Right Atrium	heart

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