Variant report

Variant	rs7751774
Chromosome Location	chr6:4166578-4166579
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4163126..4164859-chr6:4165092..4166876,2	K562	blood:
2	chr6:4159425..4161721-chr6:4164815..4167243,2	K562	blood:
3	chr6:4164447..4168248-chr6:4168446..4171415,3	K562	blood:
4	chr6:4134804..4137676-chr6:4165231..4166753,2	K562	blood:

Variant related genes	Relation type
ENSG00000198721	Chromatin interaction
ENSG00000254821	Chromatin interaction
ENSG00000234817	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1034032	1.00[ASN][1000 genomes]
rs1123555	0.97[EUR][1000 genomes]
rs11752585	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11970115	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13192123	1.00[ASN][1000 genomes]
rs13197025	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13197516	1.00[ASN][1000 genomes]
rs1327990	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs1327992	1.00[ASN][1000 genomes]
rs1360811	0.97[EUR][1000 genomes]
rs1410296	1.00[ASN][1000 genomes]
rs1576142	1.00[ASN][1000 genomes]
rs17137823	0.97[EUR][1000 genomes]
rs1932186	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2002920	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2002922	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2149097	1.00[ASN][1000 genomes]
rs2149098	1.00[ASN][1000 genomes]
rs2326472	0.97[EUR][1000 genomes]
rs34635954	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34697725	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35281314	1.00[ASN][1000 genomes]
rs35729554	1.00[ASN][1000 genomes]
rs35801932	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35928057	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35940593	1.00[ASN][1000 genomes]
rs36069200	1.00[ASN][1000 genomes]
rs6597033	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6597034	0.97[EUR][1000 genomes]
rs6597035	0.96[EUR][1000 genomes]
rs6597038	0.97[EUR][1000 genomes]
rs6597053	1.00[ASN][1000 genomes]
rs6912138	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912707	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6932643	0.97[EUR][1000 genomes]
rs6933147	0.97[EUR][1000 genomes]
rs6938649	1.00[CEU][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71555844	1.00[ASN][1000 genomes]
rs7743925	0.97[EUR][1000 genomes]
rs7745239	1.00[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.92[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749039	1.00[CEU][hapmap]
rs7749050	1.00[CEU][hapmap]
rs7749536	1.00[CEU][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.96[TSI][hapmap]
rs7761775	0.97[EUR][1000 genomes]
rs7769863	1.00[ASN][1000 genomes]
rs7770426	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs932847	1.00[ASN][1000 genomes]
rs9378858	1.00[ASN][1000 genomes]
rs9405722	1.00[ASN][1000 genomes]
rs9502132	0.97[EUR][1000 genomes]
rs9502133	0.97[EUR][1000 genomes]
rs9502134	1.00[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.96[TSI][hapmap];0.97[EUR][1000 genomes]
rs9502136	0.97[EUR][1000 genomes]
rs9503947	1.00[CEU][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.96[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9503950	1.00[CEU][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.96[TSI][hapmap]
rs9503952	0.97[EUR][1000 genomes]
rs9503954	1.00[CEU][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.96[TSI][hapmap];0.97[EUR][1000 genomes]
rs9503955	0.97[EUR][1000 genomes]
rs9503958	0.97[EUR][1000 genomes]
rs9503959	0.97[EUR][1000 genomes]
rs9503979	0.97[EUR][1000 genomes]
rs9503980	0.97[EUR][1000 genomes]
rs9503981	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022968	chr6:3862744-4272502	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv538106	chr6:3862744-4272502	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv1030104	chr6:4062894-4240269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv2422231	chr6:4100333-4233454	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv2422457	chr6:4100333-4377396	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7751774	TSPYL5	trans	cerebellum	SCAN
rs7751774	CDYL	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4164400-4182200	Weak transcription	Left Ventricle	heart

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