Variant report

Variant	rs12197190
Chromosome Location	chr6:119997911-119997912
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119264941..119267288-chr6:119996972..119999552,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1040656	0.86[ASN][1000 genomes]
rs1156148	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1156149	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1341496	0.84[ASN][1000 genomes]
rs1417842	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1417844	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1417845	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1884254	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1964836	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2207611	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2357678	0.80[EUR][1000 genomes]
rs4310086	0.85[EUR][1000 genomes]
rs4946435	0.82[EUR][1000 genomes]
rs6569085	0.82[ASN][1000 genomes]
rs6569089	0.80[EUR][1000 genomes]
rs6899335	0.83[ASN][1000 genomes]
rs6916609	0.87[ASN][1000 genomes]
rs767398	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7739078	0.80[EUR][1000 genomes]
rs7757918	0.84[ASN][1000 genomes]
rs9320700	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9372550	0.86[EUR][1000 genomes]
rs9372551	0.86[EUR][1000 genomes]
rs9372553	0.85[EUR][1000 genomes]
rs9374815	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9374819	0.82[ASN][1000 genomes]
rs9374827	0.85[EUR][1000 genomes]
rs9385082	0.85[ASN][1000 genomes]
rs9387673	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9387675	0.82[ASN][1000 genomes]
rs9398521	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9401163	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9401164	0.86[EUR][1000 genomes]
rs9401171	0.83[ASN][1000 genomes]
rs9481954	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9481958	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9489766	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1027904	chr6:119709488-120001986	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv533518	chr6:119712186-119998618	ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3442553	chr6:119742069-120076777	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1027370	chr6:119869409-120056608	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv538431	chr6:119869409-120056608	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119991800-120008000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:119992800-120009600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:119994400-119999200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:119995600-119998600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:119997600-119998000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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