Variant report

Variant	rs1071893
Chromosome Location	chr6:28167635-28167636
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28109697..28111469-chr6:28165643..28168631,4	K562	blood:
2	chr6:28166864..28169407-chr6:28186000..28188266,2	K562	blood:
3	chr6:28166299..28169743-chr6:28173090..28175496,4	K562	blood:
4	chr6:28167517..28171168-chr6:28177888..28180588,3	K562	blood:
5	chr6:28166974..28169940-chr6:28315541..28317306,2	K562	blood:
6	chr6:28129355..28131496-chr6:28165330..28168244,2	K562	blood:
7	chr6:28109697..28111824-chr6:28165805..28168424,3	K562	blood:

Variant related genes	Relation type
ENSG00000198315	Chromatin interaction
ENSG00000226314	Chromatin interaction
ENSG00000176933	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1150666	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1150678	0.89[EUR][1000 genomes]
rs1225592	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1225595	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1225716	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1233691	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1233708	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149955	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1631552	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1770131	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs183244	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs188105	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs203876	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs203877	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs203882	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs203883	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs203884	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs203892	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs203893	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2622319	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2791332	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs476167	0.85[EUR][1000 genomes]
rs536704	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9295760	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[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	nsv883514	chr6:28155418-28185726	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv883515	chr6:28156476-28181675	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv883516	chr6:28156476-28185726	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs1071893	OR2B8P	cis	Thyroid	GTEx
rs1071893	RP1-265C24.5	cis	Muscle Skeletal	GTEx
rs1071893	AL022393.7	cis	Nerve Tibial	GTEx
rs1071893	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL
rs1071893	BTN3A2///BTN3A3	Cis_chr	lymphoblastoid	RTeQTL
rs1071893	ZSCAN31	cis	Thyroid	GTEx
rs1071893	AL022393.7	cis	Artery Tibial	GTEx
rs1071893	AL022393.7	cis	Heart Left Ventricle	GTEx
rs1071893	AL022393.7	cis	Muscle Skeletal	GTEx

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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