Variant report

Variant	rs735765
Chromosome Location	chr6:28170297-28170298
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28170099..28172681-chr6:28173612..28177819,3	K562	blood:
2	chr6:28170074..28175450-chr6:28180913..28183647,5	K562	blood:
3	chr6:28145972..28147605-chr6:28169544..28171474,2	K562	blood:
4	chr6:28168282..28171016-chr6:28193123..28195287,2	K562	blood:
5	chr6:28169001..28171000-chr6:28171450..28173526,2	K562	blood:
6	chr6:28164945..28167358-chr6:28168626..28171324,2	MCF-7	breast:
7	chr6:28167517..28171168-chr6:28177888..28180588,3	K562	blood:

Variant related genes	Relation type
ENSG00000137185	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10456362	1.00[CEU][hapmap];0.84[TSI][hapmap];0.92[EUR][1000 genomes]
rs11965538	1.00[CEU][hapmap];0.84[TSI][hapmap];0.92[EUR][1000 genomes]
rs12055625	0.90[CHD][hapmap]
rs13200462	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1321505	0.93[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13437126	0.93[ASN][1000 genomes]
rs13437444	0.90[ASN][1000 genomes]
rs1419183	1.00[CEU][hapmap];0.84[TSI][hapmap];0.92[EUR][1000 genomes]
rs149943	0.85[CHD][hapmap]
rs149990	0.85[CHD][hapmap]
rs1679709	1.00[CEU][hapmap];0.83[TSI][hapmap];0.92[EUR][1000 genomes]
rs1679732	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs16893573	0.85[CHD][hapmap]
rs16893735	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1778508	1.00[CEU][hapmap];0.84[TSI][hapmap];0.92[EUR][1000 genomes]
rs1778511	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1936365	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs202906	0.85[CHD][hapmap]
rs2743555	0.92[EUR][1000 genomes]
rs2799077	1.00[CEU][hapmap];0.84[TSI][hapmap];0.92[EUR][1000 genomes]
rs2799079	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs34130214	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34712084	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3734571	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3757188	0.93[CEU][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4713138	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4713139	0.93[CEU][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4713140	0.93[CEU][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68141011	0.92[EUR][1000 genomes]
rs6901575	1.00[CEU][hapmap];0.84[TSI][hapmap]
rs6905391	0.85[EUR][1000 genomes]
rs7740487	0.92[EUR][1000 genomes]
rs8180562	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs853676	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs853678	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs853679	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs853681	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs853682	0.84[EUR][1000 genomes]
rs853685	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs853694	0.85[EUR][1000 genomes]
rs9348792	0.87[ASN][1000 genomes]
rs9357064	0.89[ASN][1000 genomes]
rs9366717	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs9368560	0.84[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9368561	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9380032	0.85[CHD][hapmap]
rs9380051	0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs9380064	0.93[CEU][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9380069	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs9393882	0.85[CHD][hapmap]
rs9393889	0.93[ASN][1000 genomes]
rs9393902	0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9393908	0.86[EUR][1000 genomes]
rs9461432	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9461439	0.93[ASN][1000 genomes]
rs9468287	0.93[CEU][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9468300	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9468301	0.93[ASN][1000 genomes]
rs9468318	0.80[CEU][hapmap]
rs9986596	0.91[EUR][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:11)

SNP	Gene	Cis/trans	Tissue	Source
rs735765	ABT1	cis	parietal	SCAN
rs735765	BTN3A2	trans	lymphoblastoid	seeQTL
rs735765	ZSCAN12	Cis_1M	lymphoblastoid	RTeQTL
rs735765	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL
rs735765	AL022393.7	cis	Muscle Skeletal	GTEx
rs735765	BTN3A2///BTN3A3	Cis_chr	lymphoblastoid	RTeQTL
rs735765	ZNF192	cis	cerebellum	SCAN
rs735765	ZSCAN23	cis	cerebellum	SCAN
rs735765	LRRC16A	cis	parietal	SCAN
rs735765	ZNF323	cis	parietal	SCAN
rs735765	ZSCAN23	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28169800-28170600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:28170000-28170600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
3	chr6:28170000-28170600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr6:28170000-28170600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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