Variant report

Variant	rs4613060
Chromosome Location	chr16:81444918-81444919
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81439334..81441774-chr16:81443135..81446124,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11866931	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13335052	1.00[EUR][1000 genomes]
rs13337864	1.00[CEU][hapmap]
rs16955319	1.00[EUR][1000 genomes]
rs34441922	1.00[EUR][1000 genomes]
rs34797363	1.00[EUR][1000 genomes]
rs7186064	0.89[EUR][1000 genomes]
rs7186540	0.89[EUR][1000 genomes]
rs7188374	1.00[EUR][1000 genomes]
rs7191231	0.89[EUR][1000 genomes]
rs7191804	0.89[EUR][1000 genomes]
rs7201488	0.89[EUR][1000 genomes]
rs7205597	1.00[EUR][1000 genomes]
rs72835160	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72835164	1.00[EUR][1000 genomes]
rs72835165	1.00[EUR][1000 genomes]
rs72835171	1.00[EUR][1000 genomes]
rs72835178	0.89[EUR][1000 genomes]
rs8046466	0.89[EUR][1000 genomes]
rs9888977	1.00[EUR][1000 genomes]
rs9889135	1.00[EUR][1000 genomes]
rs9889175	1.00[EUR][1000 genomes]
rs9889186	1.00[EUR][1000 genomes]
rs9889196	1.00[EUR][1000 genomes]
rs9927898	0.89[EUR][1000 genomes]
rs9935485	1.00[EUR][1000 genomes]
rs9940535	0.89[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	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1061359	chr16:81349826-81471867	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv542992	chr16:81349826-81471867	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81437800-81447000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:81438000-81449600	Weak transcription	Right Atrium	heart
3	chr16:81441400-81448000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:81444200-81445000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr16:81444200-81445200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr16:81444200-81445200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr16:81444400-81445000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr16:81444400-81445000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr16:81444400-81445200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr16:81444400-81445200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr16:81444400-81445200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr16:81444400-81445200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr16:81444400-81447800	Weak transcription	Brain Germinal Matrix	brain
14	chr16:81444600-81445000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr16:81444600-81445000	Flanking Active TSS	A549	lung
16	chr16:81444600-81449400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr16:81444800-81445400	Enhancers	Fetal Stomach	stomach
18	chr16:81444800-81445800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:81444800-81446200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:81444800-81447800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr16:81444800-81447800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:81444800-81448000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:81444800-81448000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr16:81444800-81448000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr16:81444800-81448000	Weak transcription	Fetal Brain Male	brain
26	chr16:81444800-81448000	Weak transcription	Fetal Thymus	thymus

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