Variant report

Variant	rs73778006
Chromosome Location	chr5:96470748-96470749
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	chr5:96469286..96471593-chr5:96474372..96477073,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs35222312	0.92[AFR][1000 genomes]
rs55997275	0.88[AFR][1000 genomes]
rs56777405	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57831006	0.88[AFR][1000 genomes]
rs58142984	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58583495	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58679656	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58760240	0.88[AFR][1000 genomes]
rs59112872	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60229106	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61062586	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61280532	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61523291	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61601400	0.88[AFR][1000 genomes]
rs6556946	0.92[AFR][1000 genomes]
rs6556947	0.92[AFR][1000 genomes]
rs6556948	0.92[AFR][1000 genomes]
rs6867597	0.92[AFR][1000 genomes]
rs6876344	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6885162	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6885356	0.88[AFR][1000 genomes]
rs6886042	0.92[AFR][1000 genomes]
rs73775654	0.92[AFR][1000 genomes]
rs73775655	0.92[AFR][1000 genomes]
rs73775656	0.92[AFR][1000 genomes]
rs73775657	0.92[AFR][1000 genomes]
rs73775658	0.92[AFR][1000 genomes]
rs73775669	0.92[AFR][1000 genomes]
rs73775670	0.92[AFR][1000 genomes]
rs73775672	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73775675	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73775676	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73775677	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73775679	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778004	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9765151	0.92[AFR][1000 genomes];1.00[AMR][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	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	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
4	nsv830413	chr5:96450582-96509294	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96455400-96491800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr5:96456400-96478000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:96459800-96491800	Weak transcription	Primary B cells from cord blood	blood
4	chr5:96463600-96471600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:96467200-96474000	Weak transcription	Brain Anterior Caudate	brain
6	chr5:96467400-96471600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:96468600-96471800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:96470000-96472400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:96470000-96475600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:96470200-96471000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr5:96470200-96471200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:96470200-96471200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:96470200-96471800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:96470200-96472000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:96470200-96472000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:96470200-96472000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:96470200-96472600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:96470200-96473000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:96470400-96470800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:96470400-96470800	Enhancers	Fetal Muscle Leg	muscle
21	chr5:96470400-96472000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:96470400-96474200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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