Variant report

Variant	rs996247
Chromosome Location	chr6:27193095-27193096
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27187208..27189985-chr6:27191442..27193096,3	K562	blood:
2	chr6:27192628..27195388-chr6:27203355..27206168,2	K562	blood:
3	chr6:27192383..27194653-chr6:27197243..27199028,2	MCF-7	breast:
4	chr6:27192498..27195500-chr6:27198039..27200217,4	K562	blood:
5	chr6:27192533..27194163-chr6:27195573..27197436,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10946904	0.90[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1102563	0.93[AFR][1000 genomes]
rs1102564	0.83[CHD][hapmap]
rs1156086	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13194053	0.81[YRI][hapmap]
rs13219181	0.81[YRI][hapmap]
rs2142686	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2295603	0.84[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs28594674	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3800309	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3800312	0.87[GIH][hapmap]
rs3800314	0.82[ASN][1000 genomes]
rs3823427	0.93[YRI][hapmap]
rs4236043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4546474	0.89[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs4713072	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4713074	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030956	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6902268	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6904071	0.81[YRI][hapmap]
rs6912503	0.86[GIH][hapmap]
rs6913660	0.81[YRI][hapmap]
rs6916555	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6917311	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6940384	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7759741	0.86[YRI][hapmap]
rs858974	0.90[AFR][1000 genomes]
rs926300	0.81[YRI][hapmap]
rs9379968	0.82[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap]
rs9468009	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9468010	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9468013	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468015	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1017328	chr6:27177147-27369588	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs996247	ZNF323	cis	parietal	SCAN
rs996247	ZNF184	cis	parietal	SCAN
rs996247	HIST1H2AL	cis	cerebellum	SCAN
rs996247	ZNF391	cis	cerebellum	SCAN
rs996247	BTN3A3	cis	cerebellum	SCAN
rs996247	BTN3A2	cis	cerebellum	SCAN
rs996247	ZNF323	cis	cerebellum	SCAN
rs996247	ZSCAN23	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27183000-27197200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:27191600-27197000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:27192800-27193200	Enhancers	GM12878-XiMat	blood
4	chr6:27193000-27193200	Enhancers	K562	blood

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