Variant report

Variant	rs6891667
Chromosome Location	chr5:54139679-54139680
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	chr5:53813794..53815703-chr5:54138497..54141381,2	K562	blood:
2	chr5:53719508..53722499-chr5:54137600..54140313,3	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10036257	0.83[EUR][1000 genomes]
rs10042394	0.86[EUR][1000 genomes]
rs10045175	0.83[EUR][1000 genomes]
rs10045765	0.86[EUR][1000 genomes]
rs10053168	0.81[EUR][1000 genomes]
rs10057871	0.86[EUR][1000 genomes]
rs10058571	0.83[EUR][1000 genomes]
rs10066622	0.83[EUR][1000 genomes]
rs10073662	0.81[EUR][1000 genomes]
rs10073721	0.81[EUR][1000 genomes]
rs10471923	0.83[EUR][1000 genomes]
rs1073709	0.86[EUR][1000 genomes]
rs10737956	0.83[EUR][1000 genomes]
rs10805463	0.83[EUR][1000 genomes]
rs10940428	0.83[EUR][1000 genomes]
rs12514244	0.84[EUR][1000 genomes]
rs12522199	0.86[EUR][1000 genomes]
rs13155441	0.83[EUR][1000 genomes]
rs13167527	0.85[EUR][1000 genomes]
rs13180287	0.83[EUR][1000 genomes]
rs1991498	0.87[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs3935813	1.00[ASN][1000 genomes]
rs4074332	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4242045	0.83[EUR][1000 genomes]
rs4242048	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4290968	0.83[EUR][1000 genomes]
rs4315891	0.89[ASN][1000 genomes]
rs4320216	0.83[TSI][hapmap]
rs4336310	0.83[EUR][1000 genomes]
rs4362906	0.86[EUR][1000 genomes]
rs4373237	0.91[ASN][1000 genomes]
rs4407587	0.89[ASN][1000 genomes]
rs4446420	0.90[ASN][1000 genomes]
rs4451013	0.86[EUR][1000 genomes]
rs4457032	0.83[EUR][1000 genomes]
rs4519880	0.83[EUR][1000 genomes]
rs4591702	0.86[EUR][1000 genomes]
rs4610422	0.86[EUR][1000 genomes]
rs4865586	0.93[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.90[ASN][1000 genomes]
rs4865587	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4865873	0.83[EUR][1000 genomes]
rs4865874	0.83[EUR][1000 genomes]
rs4865875	0.86[EUR][1000 genomes]
rs6450251	0.83[EUR][1000 genomes]
rs6450252	0.83[EUR][1000 genomes]
rs6860824	1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.99[ASN][1000 genomes]
rs6893903	0.96[ASN][1000 genomes]
rs7446423	0.86[EUR][1000 genomes]
rs7448996	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7708368	0.86[ASN][1000 genomes]
rs7728303	0.83[EUR][1000 genomes]
rs9292073	0.81[EUR][1000 genomes]
rs9292074	0.86[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	nsv830300	chr5:54056300-54257344	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3358092	chr5:54077828-54189150	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54131000-54140800	Weak transcription	Adipose Nuclei	Adipose
2	chr5:54132000-54140800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:54133800-54140600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr5:54134800-54140200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:54135000-54140000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:54135000-54140400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:54135800-54140800	Weak transcription	Fetal Intestine Large	intestine
8	chr5:54136000-54140800	Weak transcription	Liver	Liver
9	chr5:54137200-54140800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr5:54137600-54140200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:54138400-54142000	Enhancers	NHLF	lung
12	chr5:54138600-54140800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:54138800-54140000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:54138800-54140400	Weak transcription	Aorta	Aorta
15	chr5:54139600-54140200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:54139600-54140800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:54139600-54140800	Enhancers	NHDF-Ad	bronchial
18	chr5:54139600-54142000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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