Variant report

Variant	rs1378451
Chromosome Location	chr6:68753031-68753032
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:68751722..68754945-chr6:68760904..68763806,4	K562	blood:
2	chr6:68653256..68655080-chr6:68751246..68753776,2	K562	blood:
3	chr6:68592757..68600938-chr6:68750277..68758089,29	K562	blood:
4	chr6:68589241..68603169-chr6:68747484..68757867,45	K562	blood:

Variant related genes	Relation type
ENSG00000227706	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10945037	1.00[CHB][hapmap]
rs10945038	1.00[CHB][hapmap]
rs10945039	1.00[CHB][hapmap]
rs10945052	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1112645	1.00[CHB][hapmap]
rs12193347	1.00[CHB][hapmap]
rs12193464	1.00[CHB][hapmap]
rs12193704	0.88[ASN][1000 genomes]
rs12197230	1.00[CHB][hapmap]
rs12201957	0.88[ASN][1000 genomes]
rs12202242	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12204709	0.88[ASN][1000 genomes]
rs12204783	1.00[CHB][hapmap]
rs12207354	1.00[CHB][hapmap]
rs12526419	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12526505	0.88[ASN][1000 genomes]
rs13204707	0.84[ASN][1000 genomes]
rs13207384	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1350024	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1378454	0.93[AFR][1000 genomes]
rs1378455	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.92[TSI][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1378456	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1399231	1.00[CHB][hapmap]
rs1455442	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1455444	1.00[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1531064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2168292	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35506850	0.84[ASN][1000 genomes]
rs36102084	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3964402	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4574592	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6455259	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs6905781	0.88[ASN][1000 genomes]
rs6915387	1.00[CHB][hapmap]
rs6934565	0.88[ASN][1000 genomes]
rs6940421	1.00[CHB][hapmap]
rs7743527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7744416	1.00[CHB][hapmap]
rs7751480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7767069	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9363849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9454404	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027923	chr6:67830533-68828337	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv603589	chr6:67975166-68865718	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv3415097	chr6:68536406-69244164	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv886128	chr6:68707131-68783499	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
5	nsv1016113	chr6:68708308-69059884	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv538298	chr6:68708308-69059884	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv2752129	chr6:68731109-69033568	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1020734	chr6:68739118-69128457	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv538299	chr6:68739118-69128457	Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv886129	chr6:68739602-68783499	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
11	nsv603605	chr6:68739602-69135009	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1033280	chr6:68740954-69105022	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68749800-68756400	Active TSS	K562	blood
2	chr6:68751000-68753400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:68751000-68753800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:68751000-68753800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr6:68751000-68754200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:68751000-68770000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:68751600-68753200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr6:68751600-68754400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:68752400-68753400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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