Variant report

Variant	rs12682650
Chromosome Location	chr8:85169007-85169008
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	chr8:85168225..85170591-chr8:85247775..85249276,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10092306	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10102752	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10102848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10112333	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10112823	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12542046	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12548307	0.96[CHB][hapmap];0.95[JPT][hapmap]
rs13253565	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13253923	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13261650	0.82[EUR][1000 genomes]
rs13265288	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13266356	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13268314	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273191	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13281339	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1352823	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1388412	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1388415	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1388416	0.96[CHB][hapmap];0.95[JPT][hapmap]
rs1472101	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1491555	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1491556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1491566	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs1586798	0.96[CHB][hapmap];0.95[JPT][hapmap]
rs1907549	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2029581	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs2130985	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28378543	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2895920	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4349980	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs4504634	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs4509323	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4639510	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs4644249	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4740004	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4740009	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs6473536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6473537	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6996404	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7000150	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7010963	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs7825684	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs7825715	0.81[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7829111	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7829286	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7841089	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7846520	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs977857	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs977858	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs977859	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	esv2753846	chr8:84637092-85239703	Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv831374	chr8:85103604-85308976	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 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	chr8:85156200-85169400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:85165400-85178000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:85166200-85169800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:85166200-85171000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:85167400-85171000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:85168000-85170000	Enhancers	Fetal Heart	heart
7	chr8:85168200-85170400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr8:85168600-85169400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:85168800-85170200	Enhancers	Skeletal Muscle Male	skeletal muscle

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