Variant report

Variant	rs7230273
Chromosome Location	chr18:39209478-39209479
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs16975019	1.00[ASN][1000 genomes]
rs16975027	1.00[ASN][1000 genomes]
rs16975042	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28394187	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28417031	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28418883	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28419218	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28440990	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28496400	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28501996	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28545764	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28604324	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28615929	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28631059	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28697585	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7227613	0.94[AFR][1000 genomes]
rs7229095	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7230324	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73450774	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73450776	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9946392	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9946646	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9946702	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9946901	1.00[EUR][1000 genomes]
rs9954460	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9954713	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9954840	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9955179	0.96[AFR][1000 genomes]
rs9958668	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9959387	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9959468	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9962059	0.96[AFR][1000 genomes]
rs9965988	0.80[AFR][1000 genomes];1.00[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	nsv1066869	chr18:38742896-39680723	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv543685	chr18:38742896-39680723	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39185000-39209600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr18:39190800-39210200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr18:39204800-39211400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr18:39206000-39210200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr18:39206000-39210200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr18:39206200-39210400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr18:39206400-39210200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr18:39206400-39210400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr18:39207000-39210200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr18:39207000-39211400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr18:39209400-39210000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr18:39209400-39210200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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