Variant report

Variant	rs285566
Chromosome Location	chr12:41972148-41972149
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs285563	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285564	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs285568	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285569	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285581	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs286978	0.88[ASN][1000 genomes]
rs286979	0.88[ASN][1000 genomes]
rs286997	0.90[ASN][1000 genomes]
rs287000	0.90[ASN][1000 genomes]
rs287030	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs287042	0.88[ASN][1000 genomes]
rs4514489	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963993	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41966200-41973000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:41966600-41973000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:41967000-41975600	Weak transcription	Aorta	Aorta
4	chr12:41967200-41972800	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:41967400-41976600	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:41967600-41972400	Weak transcription	Fetal Stomach	stomach
7	chr12:41967600-41973200	Weak transcription	Brain Germinal Matrix	brain
8	chr12:41968400-41975400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:41969400-41973000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:41970200-41972800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:41971600-41972600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:41971600-41972600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:41971600-41972600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:41971600-41972600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:41971800-41972800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:41971800-41972800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:41972000-41972400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:41972000-41972400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:41972000-41973400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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