Variant report

Variant	rs4764967
Chromosome Location	chr12:103972917-103972918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:103967859..103969878-chr12:103972890..103976070,3	K562	blood:
2	chr12:103240193..103242620-chr12:103972881..103975750,2	K562	blood:
3	chr12:103969311..103971113-chr12:103972215..103974631,2	MCF-7	breast:
4	chr12:103972674..103974362-chr12:103976968..103979851,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10454506	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10745971	0.97[ASN][1000 genomes]
rs10745972	0.93[ASN][1000 genomes]
rs10861040	0.97[ASN][1000 genomes]
rs1346412	0.97[ASN][1000 genomes]
rs1582880	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1582881	0.83[ASW][hapmap];1.00[CEU][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];0.93[LWK][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1991436	0.83[ASW][hapmap];1.00[CEU][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];0.93[LWK][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap]
rs6539083	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539084	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs703598	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs703599	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs703600	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs703601	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs703602	0.83[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.93[LWK][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs703603	0.83[ASW][hapmap];1.00[CEU][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.93[LWK][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs703604	0.88[EUR][1000 genomes]
rs703606	0.88[EUR][1000 genomes]
rs703610	0.85[CEU][hapmap]
rs7295399	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7303682	0.96[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.88[LWK][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7307320	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7958280	1.00[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4764967	STAB2	cis	Thyroid	GTEx
rs4764967	CHST11	cis	parietal	SCAN
rs4764967	STAB2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:103969800-103973200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:103969800-103973200	Weak transcription	HMEC	breast
3	chr12:103969800-103973200	Weak transcription	NHEK	skin
4	chr12:103969800-103973400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:103969800-103973400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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