Variant report

Variant	rs17630580
Chromosome Location	chr5:96427776-96427777
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96425190..96428341-chr5:96429686..96433552,4	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10059209	1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[ASN][1000 genomes]
rs12657704	1.00[MEX][hapmap]
rs17592834	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs182624	0.86[ASN][1000 genomes]
rs2287902	1.00[MEX][hapmap]
rs2303211	1.00[MEX][hapmap]
rs56295110	0.87[ASN][1000 genomes]
rs57196504	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57204547	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57608661	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59041418	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59152856	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59781414	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59898871	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60269403	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60482981	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60510178	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs61077558	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6865929	0.87[ASN][1000 genomes]
rs6867338	1.00[JPT][hapmap]
rs6884540	0.87[ASN][1000 genomes]
rs6887763	0.87[ASN][1000 genomes]
rs6888479	0.87[ASN][1000 genomes]
rs73141197	0.87[ASN][1000 genomes]
rs769336	0.81[ASN][1000 genomes]
rs769338	0.81[ASN][1000 genomes]
rs7702914	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7702930	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7703449	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7720052	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7723473	0.87[ASN][1000 genomes]
rs7728347	1.00[MEX][hapmap]

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	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv4924	chr5:96391451-96437233	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv969966	chr5:96418895-96427787	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv830412	chr5:96427305-96606619	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 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	chr5:96423200-96430200	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:96425200-96437000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:96425400-96428200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:96425600-96430200	Weak transcription	Primary B cells from cord blood	blood
5	chr5:96425600-96430600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr5:96425800-96430600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr5:96426400-96437200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr5:96426600-96427800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr5:96426800-96430200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:96427000-96428800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:96427000-96430200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:96427400-96428400	Enhancers	K562	blood
13	chr5:96427400-96429200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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