Variant report

Variant	rs10801849
Chromosome Location	chr1:91730294-91730295
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	chr1:91729597..91732468-chr1:91734232..91736198,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1034499	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.84[TSI][hapmap];0.96[YRI][hapmap]
rs10801851	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10922991	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10923006	0.86[AMR][1000 genomes]
rs10923008	0.84[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.90[MEX][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes]
rs1307752	0.92[ASN][1000 genomes]
rs1595867	0.97[ASN][1000 genomes]
rs172191	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs1822056	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs204304	0.95[CHB][hapmap];0.89[CHD][hapmap];0.86[JPT][hapmap]
rs281973	0.95[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.86[MEX][hapmap]
rs282000	0.95[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap]
rs282003	0.95[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap]
rs282004	0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap]
rs282057	0.95[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap]
rs2893151	0.82[ASW][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes]
rs3893101	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes]
rs605146	0.95[ASN][1000 genomes]
rs619269	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs623976	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs652168	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs664620	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs665098	0.95[ASN][1000 genomes]
rs693299	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs7541566	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes]
rs9428007	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9663060	0.98[ASN][1000 genomes]
rs9728662	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv1800676	chr1:91722083-91854389	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv1796351	chr1:91722083-91872374	Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10801849	HFM1	cis	cerebellum	SCAN
rs10801849	HFM1	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91717000-91743000	Weak transcription	Fetal Lung	lung
2	chr1:91717200-91741200	Weak transcription	Fetal Kidney	kidney
3	chr1:91719600-91748400	Weak transcription	Ovary	ovary
4	chr1:91719800-91736400	Weak transcription	Pancreas	Pancrea
5	chr1:91719800-91748000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:91720000-91734000	Weak transcription	Brain Germinal Matrix	brain
7	chr1:91726000-91736400	Weak transcription	Left Ventricle	heart
8	chr1:91729600-91731200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:91729800-91732600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:91729800-91735000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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