Variant report

Variant	rs602388
Chromosome Location	chr13:30518658-30518659
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10467438	1.00[ASN][1000 genomes]
rs11147402	1.00[ASN][1000 genomes]
rs11147403	0.83[ASN][1000 genomes]
rs11619001	1.00[ASN][1000 genomes]
rs11619980	1.00[ASN][1000 genomes]
rs11620184	1.00[ASN][1000 genomes]
rs3803269	1.00[ASN][1000 genomes]
rs3803271	1.00[ASN][1000 genomes]
rs475607	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs485057	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs486677	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs503693	0.84[EUR][1000 genomes]
rs531084	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548941	1.00[ASN][1000 genomes]
rs562459	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565264	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs567291	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs571307	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572055	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs573132	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs584801	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs585231	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs586146	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs586167	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs588372	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs602884	1.00[ASN][1000 genomes]
rs605464	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs605478	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs618877	1.00[ASN][1000 genomes]
rs619367	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632214	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632258	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs633496	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646983	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647794	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs651873	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs662224	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs669105	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679603	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs716801	1.00[ASN][1000 genomes]
rs73159307	1.00[ASN][1000 genomes]
rs7338743	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7358963	1.00[ASN][1000 genomes]
rs7996122	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818606	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs818607	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs818608	0.83[ASN][1000 genomes]
rs865324	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs866019	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912785	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9285067	1.00[ASN][1000 genomes]
rs9285068	1.00[ASN][1000 genomes]
rs9578150	1.00[ASN][1000 genomes]
rs9579501	1.00[ASN][1000 genomes]
rs9579505	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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr13:30510800-30521600	Weak transcription	Pancreas	Pancrea
2	chr13:30514000-30522600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:30516400-30518800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr13:30516600-30518800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:30516600-30519000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr13:30517400-30526000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr13:30518200-30520000	Weak transcription	Stomach Mucosa	stomach
8	chr13:30518200-30520200	Enhancers	Placenta	Placenta
9	chr13:30518200-30522000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr13:30518400-30520200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:30518600-30518800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
12	chr13:30518600-30528600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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