Variant report

Variant	rs6493894
Chromosome Location	chr15:57132593-57132594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57131930..57134243-chr15:57135173..57137568,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1012321	0.92[EUR][1000 genomes]
rs10450961	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10518878	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10851612	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs1115019	0.94[CEU][hapmap];0.89[TSI][hapmap]
rs11855646	0.88[EUR][1000 genomes]
rs11858368	0.89[EUR][1000 genomes]
rs12324092	0.85[GIH][hapmap]
rs13379960	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1430819	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1441235	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1441236	1.00[CEU][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1612205	0.80[EUR][1000 genomes]
rs1647392	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1657922	0.94[CEU][hapmap];0.82[TSI][hapmap]
rs1657930	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1657934	0.94[CEU][hapmap];0.84[CHB][hapmap];0.82[CHD][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs1657935	0.82[EUR][1000 genomes]
rs1657936	0.82[EUR][1000 genomes]
rs1657937	0.82[EUR][1000 genomes]
rs1657938	0.82[EUR][1000 genomes]
rs1657939	0.80[EUR][1000 genomes]
rs1660948	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1660951	0.83[EUR][1000 genomes]
rs1660961	0.90[EUR][1000 genomes]
rs1967352	0.90[EUR][1000 genomes]
rs1967353	0.90[EUR][1000 genomes]
rs2161933	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2163369	0.94[EUR][1000 genomes]
rs2278613	0.87[CEU][hapmap]
rs2414487	0.88[EUR][1000 genomes]
rs28371400	0.88[EUR][1000 genomes]
rs28468978	0.90[EUR][1000 genomes]
rs28568712	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28609621	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28736360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28874022	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4313751	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56965085	0.90[EUR][1000 genomes]
rs6493886	0.82[CEU][hapmap];0.80[MEX][hapmap]
rs6493892	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6493893	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[CHD][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67114210	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67278720	0.85[EUR][1000 genomes]
rs67622899	0.91[EUR][1000 genomes]
rs68083905	0.93[EUR][1000 genomes]
rs7163302	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7166876	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7175191	0.94[CEU][hapmap];0.89[TSI][hapmap]
rs7182691	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72747165	0.90[EUR][1000 genomes]
rs7359253	0.94[CEU][hapmap];0.84[CHB][hapmap];0.82[CHD][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs8026149	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8040866	0.94[EUR][1000 genomes]
rs8042606	0.90[EUR][1000 genomes]
rs9302200	0.80[TSI][hapmap]
rs9919955	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv833020	chr15:57055947-57216068	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv457162	chr15:57083006-57225766	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv569577	chr15:57083006-57225766	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv542393	chr15:57115116-57341363	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57110000-57138600	Weak transcription	Left Ventricle	heart
2	chr15:57125400-57140400	Weak transcription	Brain Angular Gyrus	brain
3	chr15:57125400-57141000	Weak transcription	Fetal Lung	lung
4	chr15:57125400-57141000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr15:57128200-57140400	Weak transcription	Brain Anterior Caudate	brain
6	chr15:57128200-57158600	Weak transcription	Ovary	ovary
7	chr15:57128400-57140000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr15:57128400-57140400	Weak transcription	Right Ventricle	heart
9	chr15:57129400-57137400	Weak transcription	Fetal Kidney	kidney
10	chr15:57129400-57142600	Weak transcription	Fetal Muscle Leg	muscle
11	chr15:57129800-57133000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:57131000-57141000	Weak transcription	Adipose Nuclei	Adipose
13	chr15:57131800-57132600	Enhancers	HMEC	breast
14	chr15:57132000-57132600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr15:57132000-57132600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:57132000-57136800	Weak transcription	Dnd41	blood
17	chr15:57132400-57132800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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