Variant report

Variant	rs12300916
Chromosome Location	chr12:8957511-8957512
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10082851	1.00[EUR][1000 genomes]
rs10082862	1.00[EUR][1000 genomes]
rs10129059	1.00[EUR][1000 genomes]
rs11046855	1.00[EUR][1000 genomes]
rs11046861	1.00[EUR][1000 genomes]
rs11046868	1.00[EUR][1000 genomes]
rs11046869	1.00[EUR][1000 genomes]
rs11046888	1.00[EUR][1000 genomes]
rs11046896	1.00[EUR][1000 genomes]
rs11046898	1.00[EUR][1000 genomes]
rs11046899	1.00[EUR][1000 genomes]
rs11046943	1.00[EUR][1000 genomes]
rs11047004	1.00[EUR][1000 genomes]
rs11047012	1.00[EUR][1000 genomes]
rs11047040	1.00[EUR][1000 genomes]
rs11047058	1.00[EUR][1000 genomes]
rs11047060	1.00[EUR][1000 genomes]
rs11047080	1.00[EUR][1000 genomes]
rs11047108	1.00[EUR][1000 genomes]
rs11047109	1.00[EUR][1000 genomes]
rs11502439	1.00[EUR][1000 genomes]
rs12099874	1.00[EUR][1000 genomes]
rs12296102	1.00[EUR][1000 genomes]
rs12297411	1.00[EUR][1000 genomes]
rs12297919	1.00[EUR][1000 genomes]
rs12298316	1.00[EUR][1000 genomes]
rs12299388	1.00[EUR][1000 genomes]
rs12307497	1.00[EUR][1000 genomes]
rs12311048	1.00[EUR][1000 genomes]
rs12311105	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12312707	1.00[EUR][1000 genomes]
rs12314072	1.00[EUR][1000 genomes]
rs12314823	1.00[EUR][1000 genomes]
rs12315566	1.00[EUR][1000 genomes]
rs12318911	1.00[EUR][1000 genomes]
rs12319105	1.00[EUR][1000 genomes]
rs12319898	1.00[EUR][1000 genomes]
rs12320520	1.00[EUR][1000 genomes]
rs12320578	1.00[EUR][1000 genomes]
rs12321251	1.00[EUR][1000 genomes]
rs12322748	1.00[EUR][1000 genomes]
rs28651596	1.00[EUR][1000 genomes]
rs28812300	1.00[EUR][1000 genomes]
rs57750938	1.00[EUR][1000 genomes]
rs58191549	1.00[EUR][1000 genomes]
rs58704538	1.00[EUR][1000 genomes]
rs58777503	1.00[EUR][1000 genomes]
rs59291561	1.00[EUR][1000 genomes]
rs59480189	1.00[EUR][1000 genomes]
rs59705800	1.00[EUR][1000 genomes]
rs60389926	1.00[EUR][1000 genomes]
rs60467762	1.00[EUR][1000 genomes]
rs60925344	1.00[EUR][1000 genomes]
rs61368791	1.00[EUR][1000 genomes]
rs7134750	1.00[EUR][1000 genomes]
rs7139182	1.00[EUR][1000 genomes]
rs7953439	1.00[EUR][1000 genomes]
rs7953800	1.00[EUR][1000 genomes]
rs7979018	1.00[EUR][1000 genomes]
rs7980514	1.00[EUR][1000 genomes]
rs9783460	1.00[EUR][1000 genomes]
rs9783480	1.00[EUR][1000 genomes]
rs9783524	1.00[EUR][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	esv34096	chr12:8927520-8968810	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3411524	chr12:8957209-8964599	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases
3	esv3379065	chr12:8957268-8965075	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8945200-8958000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:8947600-8961800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:8947800-8958200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:8949000-8962600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:8950000-8958200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:8950000-8958800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:8955800-8958200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:8956000-8957600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:8956400-8958200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:8956800-8959800	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr12:8957000-8963000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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