Variant report

Variant	rs1771928
Chromosome Location	chr1:247438521-247438522
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	chr1:247397665..247399699-chr1:247438222..247441070,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1057996	1.00[EUR][1000 genomes]
rs10924980	0.92[EUR][1000 genomes]
rs10924984	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1192835	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1192836	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12239714	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs16846406	1.00[EUR][1000 genomes]
rs1771919	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1771923	1.00[CEU][hapmap]
rs1771944	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1771945	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1771946	1.00[EUR][1000 genomes]
rs1778534	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs1778548	1.00[EUR][1000 genomes]
rs1891074	1.00[EUR][1000 genomes]
rs2793288	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2799179	0.84[EUR][1000 genomes]
rs4501868	1.00[CEU][hapmap]
rs4925535	1.00[EUR][1000 genomes]
rs56322743	1.00[EUR][1000 genomes]
rs57178323	1.00[EUR][1000 genomes]
rs61276550	1.00[EUR][1000 genomes]
rs6657577	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6669714	1.00[EUR][1000 genomes]
rs6671690	1.00[EUR][1000 genomes]
rs6676056	1.00[EUR][1000 genomes]
rs6689651	1.00[EUR][1000 genomes]
rs74152973	0.91[EUR][1000 genomes]
rs74152980	1.00[EUR][1000 genomes]
rs74152988	1.00[EUR][1000 genomes]
rs74152993	1.00[EUR][1000 genomes]
rs7517006	0.92[EUR][1000 genomes]
rs947174	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv833126	chr1:247273084-247476150	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	n/a
3	esv3411043	chr1:247382851-247517729	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
4	esv3378684	chr1:247382994-247518438	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
5	nsv833137	chr1:247437317-247607428	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247436800-247440200	Weak transcription	Fetal Kidney	kidney
2	chr1:247436800-247457000	Weak transcription	HSMMtube	muscle
3	chr1:247437000-247439000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:247438000-247438600	Enhancers	Psoas Muscle	Psoas
5	chr1:247438000-247438600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr1:247438000-247438600	Enhancers	HepG2	liver
7	chr1:247438000-247438800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:247438000-247438800	Enhancers	Gastric	stomach

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