Variant report

Variant	rs60172823
Chromosome Location	chr13:67643753-67643754
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	chr13:67641629..67645149-chr13:67647169..67649102,3	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10492598	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11617434	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11620418	1.00[EUR][1000 genomes]
rs41537849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58200176	0.82[ASN][1000 genomes]
rs59521131	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60483834	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7323324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74093570	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8000673	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8000893	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530605	chr13:67126136-67697306	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1035741	chr13:67212973-68077950	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv541817	chr13:67212973-68077950	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv428604	chr13:67480426-67645030	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv900414	chr13:67515590-67701341	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1045093	chr13:67517932-67693875	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv541821	chr13:67517932-67693875	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv430581	chr13:67572850-67762288	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv430582	chr13:67589898-67762299	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv1037217	chr13:67589937-67728156	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv1039600	chr13:67593961-67726047	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv541823	chr13:67593961-67726047	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67635600-67645000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:67638000-67644400	Weak transcription	Brain Angular Gyrus	brain
3	chr13:67638000-67644600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:67638400-67649800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr13:67640200-67649200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr13:67642200-67644400	Weak transcription	Brain Substantia Nigra	brain
7	chr13:67642600-67645400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr13:67642600-67647200	Enhancers	Brain Hippocampus Middle	brain
9	chr13:67643000-67643800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:67643000-67644200	Active TSS	A549	lung
11	chr13:67643000-67645200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr13:67643000-67646400	Weak transcription	Brain Anterior Caudate	brain
13	chr13:67643200-67645000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr13:67643400-67643800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:67643400-67644800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr13:67643400-67645000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr13:67643400-67645000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr13:67643400-67645000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr13:67643400-67645400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr13:67643600-67644000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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