Variant report

Variant	rs8010347
Chromosome Location	chr14:81107797-81107798
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	chr14:81105972..81108126-chr14:81297370..81299564,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10130406	0.93[ASN][1000 genomes]
rs10130415	0.92[ASN][1000 genomes]
rs10130508	0.98[ASN][1000 genomes]
rs10130522	0.98[ASN][1000 genomes]
rs10131100	0.98[ASN][1000 genomes]
rs10135604	0.85[CEU][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes]
rs10136394	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10138431	0.83[TSI][hapmap]
rs10139763	0.95[ASN][1000 genomes]
rs10140109	0.95[ASN][1000 genomes]
rs10140845	0.81[CEU][hapmap]
rs10143228	0.98[ASN][1000 genomes]
rs10145319	0.85[EUR][1000 genomes]
rs10146465	0.94[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10146576	0.98[ASN][1000 genomes]
rs10146659	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10146748	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10147245	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10150384	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10151209	0.98[ASN][1000 genomes]
rs11159468	0.90[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11159469	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11844906	0.98[ASN][1000 genomes]
rs11847664	0.97[ASN][1000 genomes]
rs12588381	0.95[ASN][1000 genomes]
rs12889844	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1547499	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1547500	0.90[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17110851	0.89[JPT][hapmap]
rs17110854	0.89[JPT][hapmap]
rs17110914	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17110923	0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17110926	1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs17110955	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1868546	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1972298	0.98[ASN][1000 genomes]
rs2167148	0.98[ASN][1000 genomes]
rs2596116	0.90[CEU][hapmap];0.93[GIH][hapmap]
rs2596117	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2597083	0.90[CHB][hapmap];0.98[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs2597085	0.89[ASN][1000 genomes]
rs2619659	1.00[JPT][hapmap]
rs2619667	0.83[ASN][1000 genomes]
rs34481438	0.86[ASN][1000 genomes]
rs56256007	0.83[ASN][1000 genomes]
rs58902662	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61429001	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61979379	0.95[ASN][1000 genomes]
rs61979380	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61979382	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6574594	1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs6574595	0.95[ASN][1000 genomes]
rs7140355	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7140933	0.98[ASN][1000 genomes]
rs7148223	0.98[ASN][1000 genomes]
rs7148754	0.98[ASN][1000 genomes]
rs7148885	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7149459	0.84[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];0.84[MEX][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7153484	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7157843	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7160749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8008043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8012237	0.98[ASN][1000 genomes]
rs8016151	0.86[CEU][hapmap];0.84[GIH][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap];0.85[EUR][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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv565290	chr14:81085129-81230117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8010347	TSC22D3	trans	parietal	SCAN
rs8010347	C14orf145	cis	cerebellum	SCAN
rs8010347	C14orf145	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81083400-81109400	Weak transcription	Dnd41	blood
2	chr14:81099000-81109600	Weak transcription	Thymus	Thymus
3	chr14:81105400-81112800	Weak transcription	HSMM	muscle
4	chr14:81105800-81112000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:81106200-81112400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:81106200-81135400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:81107000-81112200	Weak transcription	A549	lung
8	chr14:81107200-81110400	Weak transcription	HUVEC	blood vessel

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