Variant report

Variant	rs16975848
Chromosome Location	chr19:42988971-42988972
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	chr19:42948792..42951682-chr19:42987140..42989060,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10518265	1.00[EUR][1000 genomes]
rs16975748	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975813	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975816	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975958	1.00[EUR][1000 genomes]
rs1903724	1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34044249	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs34097578	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34147019	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34366776	1.00[EUR][1000 genomes]
rs34381435	1.00[EUR][1000 genomes]
rs34637823	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34734442	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34760209	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34923099	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35002034	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35038065	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35135831	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35213872	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35266309	1.00[EUR][1000 genomes]
rs35312827	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35349390	1.00[EUR][1000 genomes]
rs35409716	0.89[AMR][1000 genomes]
rs35544765	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35855384	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35917849	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35969273	1.00[EUR][1000 genomes]
rs3745238	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4635443	1.00[EUR][1000 genomes]
rs55697425	1.00[EUR][1000 genomes]
rs56271304	1.00[EUR][1000 genomes]
rs56312460	1.00[EUR][1000 genomes]
rs57516100	1.00[EUR][1000 genomes]
rs58405647	1.00[EUR][1000 genomes]
rs58845793	1.00[EUR][1000 genomes]
rs59983776	1.00[EUR][1000 genomes]
rs60389892	1.00[EUR][1000 genomes]
rs60993923	1.00[EUR][1000 genomes]
rs61661961	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7253354	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932713	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73932727	1.00[EUR][1000 genomes]
rs73932730	1.00[EUR][1000 genomes]
rs73932732	1.00[EUR][1000 genomes]
rs73932734	1.00[EUR][1000 genomes]
rs73932736	1.00[EUR][1000 genomes]
rs73932737	1.00[EUR][1000 genomes]
rs73932738	1.00[EUR][1000 genomes]
rs73932739	1.00[EUR][1000 genomes]
rs73932741	1.00[EUR][1000 genomes]
rs73932742	1.00[EUR][1000 genomes]
rs73932744	1.00[EUR][1000 genomes]
rs73932746	1.00[EUR][1000 genomes]
rs73932747	1.00[EUR][1000 genomes]
rs73932748	1.00[EUR][1000 genomes]
rs73932750	1.00[EUR][1000 genomes]
rs73932751	1.00[EUR][1000 genomes]
rs73932752	1.00[EUR][1000 genomes]
rs73932754	1.00[EUR][1000 genomes]
rs73932761	1.00[EUR][1000 genomes]
rs73932762	1.00[EUR][1000 genomes]
rs73936020	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73936024	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73936031	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73936032	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8105476	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8109269	1.00[EUR][1000 genomes]
rs8110316	1.00[EUR][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	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42979400-42990800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr19:42981200-43002000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:42981400-42993000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr19:42985200-42993000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:42986000-42989600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:42986000-42990400	Weak transcription	Adipose Nuclei	Adipose
7	chr19:42986000-42999400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr19:42986200-42990000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr19:42986600-42998200	Weak transcription	Liver	Liver
10	chr19:42987600-42992600	Enhancers	HepG2	liver
11	chr19:42988400-42989000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr19:42988400-42989400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr19:42988600-42989600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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