Variant report

Variant	rs12530171
Chromosome Location	chr6:119688768-119688769
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119670595..119672579-chr6:119686170..119689038,2	K562	blood:

Variant related genes	Relation type
ENSG00000111885	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1005506	0.89[ASW][hapmap];0.92[JPT][hapmap]
rs11153815	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12526344	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12528127	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12529667	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];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295374	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1295375	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1295380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295394	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1342313	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1418376	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1555684	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs171843	0.88[CEU][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs195047	0.83[ASN][1000 genomes]
rs195049	0.82[ASN][1000 genomes]
rs195050	0.81[AMR][1000 genomes]
rs195053	0.80[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs195054	0.88[CEU][hapmap];0.80[CHB][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap];0.89[MEX][hapmap];0.84[TSI][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs195055	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs195057	0.88[CEU][hapmap];0.80[CHB][hapmap];0.87[CHD][hapmap];0.92[JPT][hapmap];0.94[MEX][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs195060	0.80[CHB][hapmap];0.97[CHD][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs195061	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs195065	0.88[ASN][1000 genomes]
rs195067	0.86[CEU][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs195068	0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs195069	0.88[ASN][1000 genomes]
rs195070	0.80[CHB][hapmap];0.97[CHD][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs195072	0.85[ASN][1000 genomes]
rs195073	0.88[ASN][1000 genomes]
rs195074	0.88[ASN][1000 genomes]
rs195077	0.88[CEU][hapmap];0.80[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs195082	0.88[ASN][1000 genomes]
rs195084	0.88[ASN][1000 genomes]
rs195086	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs195087	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs195093	0.82[ASN][1000 genomes]
rs2066350	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2295203	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28364655	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3778110	1.00[CEU][hapmap];0.87[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3798655	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4945636	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4945638	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4946416	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56095132	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6569059	0.89[ASW][hapmap];0.84[JPT][hapmap]
rs6569062	0.80[CHB][hapmap];0.92[JPT][hapmap]
rs66524742	0.81[ASN][1000 genomes]
rs6900388	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6903680	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6925366	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6932066	0.82[ASN][1000 genomes]
rs6933961	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs72952933	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72952941	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7765368	0.89[MEX][hapmap]
rs885028	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9372528	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9372531	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9372534	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9374784	0.85[AMR][1000 genomes]
rs9374785	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9374786	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9374789	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9374790	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9385071	0.92[AMR][1000 genomes]
rs9387645	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9387647	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9387650	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9398506	1.00[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9398507	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9398508	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9398509	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9401136	0.95[AMR][1000 genomes]
rs9489650	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119671800-119689200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:119673400-119690000	Weak transcription	K562	blood
3	chr6:119675200-119688800	Weak transcription	Brain Anterior Caudate	brain
4	chr6:119677000-119691800	Weak transcription	Adipose Nuclei	Adipose
5	chr6:119679400-119691600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr6:119681000-119690200	Weak transcription	Primary T cells from cord blood	blood
7	chr6:119682000-119693200	Weak transcription	Left Ventricle	heart
8	chr6:119686600-119689000	Strong transcription	Primary hematopoietic stem cells	blood
9	chr6:119687200-119688800	Strong transcription	Primary B cells from cord blood	blood
10	chr6:119688000-119689200	Enhancers	Fetal Heart	heart
11	chr6:119688200-119689200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:119688600-119690200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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