Variant report

Variant	rs60303224
Chromosome Location	chr3:54733133-54733134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10510771	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11914973	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11920788	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11925949	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17054291	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17054293	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17054295	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34590038	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55962540	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56063440	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59796966	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61267487	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66795104	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67730102	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6784130	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72870690	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737517	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7641640	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428084	chr3:54404258-54742756	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv834700	chr3:54637374-54803896	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54713600-54743400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:54730000-54734000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:54731200-54733200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:54731400-54733600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr3:54731400-54733600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:54731600-54733400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:54731600-54733600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr3:54731600-54733600	Enhancers	Fetal Brain Female	brain
9	chr3:54731800-54733200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:54731800-54733200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:54731800-54733200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr3:54732000-54733200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:54732000-54733600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:54732400-54733800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:54732400-54737600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:54732400-54737800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:54732400-54737800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr3:54732400-54737800	Weak transcription	Brain Germinal Matrix	brain
19	chr3:54732600-54733600	Enhancers	Brain Hippocampus Middle	brain
20	chr3:54732800-54737000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:54732800-54737600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr3:54732800-54737600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr3:54733000-54737600	Weak transcription	Brain Anterior Caudate	brain

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