Variant report

Variant	rs12191280
Chromosome Location	chr6:27183317-27183318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27171746..27174029-chr6:27180862..27184062,3	K562	blood:
2	chr6:27182916..27186403-chr6:27189146..27192783,3	K562	blood:
3	chr6:27180369..27183815-chr6:27439308..27442390,4	K562	blood:

Variant related genes	Relation type
ENSG00000096654	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10946896	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs1102557	1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs11758615	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12153912	0.88[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12189835	0.89[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs12189964	0.84[EUR][1000 genomes]
rs12190473	1.00[JPT][hapmap]
rs12192049	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs12192502	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs12193820	1.00[JPT][hapmap]
rs12194893	1.00[JPT][hapmap]
rs12195360	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12196084	0.89[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12196889	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12198077	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs12199218	1.00[JPT][hapmap]
rs12200798	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12200985	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs12201774	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs12203728	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs12204768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12205921	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs12207614	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12209393	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs12209429	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs12209456	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs12209800	0.85[EUR][1000 genomes]
rs12210905	0.80[EUR][1000 genomes]
rs12213361	0.80[EUR][1000 genomes]
rs12214930	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs12215241	1.00[JPT][hapmap]
rs2023467	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3531	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs3800305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3800306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3800310	0.84[EUR][1000 genomes]
rs3922717	1.00[JPT][hapmap]
rs4541737	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs4636015	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs5030955	0.88[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs5030958	0.82[EUR][1000 genomes]
rs67153537	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6902012	0.88[CEU][hapmap]
rs6920115	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs6940638	1.00[JPT][hapmap]
rs72843609	0.80[EUR][1000 genomes]
rs72843611	0.80[EUR][1000 genomes]
rs72843613	0.80[EUR][1000 genomes]
rs72843615	0.80[EUR][1000 genomes]
rs72843619	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72843622	0.84[EUR][1000 genomes]
rs72843629	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72843633	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72843640	0.84[EUR][1000 genomes]
rs72843641	0.84[EUR][1000 genomes]
rs72843643	0.81[EUR][1000 genomes]
rs72843644	0.81[EUR][1000 genomes]
rs858984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs858985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs858986	0.90[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs858988	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs858989	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs858992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs858995	0.89[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9348756	1.00[JPT][hapmap]
rs9379970	0.89[CEU][hapmap]
rs9393802	0.86[CEU][hapmap]
rs9393803	0.89[CEU][hapmap]
rs9467965	0.87[CEU][hapmap]
rs9467971	0.88[CEU][hapmap];1.00[JPT][hapmap]

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

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27180600-27183600	Active TSS	K562	blood
2	chr6:27181000-27183400	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr6:27181000-27183400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr6:27181200-27183400	Active TSS	H1 Cell Line	embryonic stem cell
5	chr6:27181200-27183400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr6:27181200-27183400	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr6:27181400-27183400	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr6:27181400-27183600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:27181400-27183600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:27181400-27183800	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr6:27183000-27183400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:27183000-27183400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:27183000-27183400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:27183000-27197200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:27183200-27183600	Enhancers	A549	lung

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