Variant report

Variant	rs17644494
Chromosome Location	chr8:50019679-50019680
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	chr8:50019288..50021191-chr8:50037884..50039646,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10105794	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10435574	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10435612	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10504070	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10504072	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10808744	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10808745	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10957337	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10957356	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10957357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11778863	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11784268	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11785310	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11997959	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12156111	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546839	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12548464	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549138	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1511359	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1511365	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2292399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28685207	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs341801	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs341802	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs341809	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs341813	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4348510	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4406405	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4493917	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4493918	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4873092	0.93[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4873096	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4873098	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873306	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4873307	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4873309	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4873312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4873314	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4873317	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55920380	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55948643	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56057508	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56074306	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56078938	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57085792	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59064792	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60449482	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62507177	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62507178	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62507245	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62507246	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62507247	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62507251	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62507252	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62507253	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6472220	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997703	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7817571	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7820270	0.93[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9298106	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643394	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643395	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs974780	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025068	chr8:49953397-50370208	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	esv3383502	chr8:49991448-50020707	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1023325	chr8:49994793-50050571	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1793350	chr8:50013702-50102628	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	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	chr8:50015600-50022400	Weak transcription	Gastric	stomach
2	chr8:50016200-50022400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:50016800-50022400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:50018800-50022400	Enhancers	K562	blood
5	chr8:50019000-50023400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:50019200-50023600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:50019400-50020000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:50019400-50020600	Enhancers	HSMMtube	muscle
9	chr8:50019400-50021800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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