Variant report

Variant	rs10849647
Chromosome Location	chr12:119814623-119814624
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:119806583..119808984-chr12:119813219..119815539,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10774492	0.89[ASN][1000 genomes]
rs10774496	1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs10849651	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10849652	0.85[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.85[LWK][hapmap];0.92[ASN][1000 genomes]
rs10849653	0.92[ASN][1000 genomes]
rs10849654	0.81[AMR][1000 genomes]
rs10849656	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10849657	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs10849659	0.93[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs11064757	1.00[CEU][hapmap];0.84[JPT][hapmap]
rs11064761	0.82[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs11064763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11064764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12367398	0.90[CEU][hapmap]
rs12370130	1.00[CEU][hapmap];0.80[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4300442	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap]
rs4465416	0.93[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs4991185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs56686166	0.92[ASN][1000 genomes]
rs7298161	0.93[CHB][hapmap];0.95[JPT][hapmap]
rs7301599	0.93[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap]
rs7313792	0.93[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs73404383	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10849647	HSPB8	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119811400-119814800	Weak transcription	Esophagus	oesophagus
2	chr12:119811400-119816600	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:119811400-119819600	Weak transcription	Lung	lung
4	chr12:119814000-119816200	Weak transcription	Fetal Heart	heart
5	chr12:119814000-119816600	Weak transcription	Right Atrium	heart
6	chr12:119814000-119816600	Weak transcription	Right Ventricle	heart
7	chr12:119814200-119816000	Weak transcription	Left Ventricle	heart
8	chr12:119814400-119815400	Weak transcription	Fetal Lung	lung

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