Variant report

Variant	rs7960443
Chromosome Location	chr12:104645363-104645364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104643349..104645898-chr12:104680595..104683102,2	K562	blood:
2	chr12:104643850..104647465-chr12:104679926..104684172,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EID3-2	chr12:104645305-104645456	NONHSAT030412
2	lnc-EID3-2	chr12:104645324-104645456	NONHSAT030413

Variant related genes	Relation type
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10400561	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10745994	0.85[EUR][1000 genomes]
rs10745997	0.80[ASN][1000 genomes]
rs10778311	0.85[ASN][1000 genomes]
rs10861180	0.88[ASN][1000 genomes]
rs10861181	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11111955	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11111962	0.85[ASN][1000 genomes]
rs11111963	0.85[ASN][1000 genomes]
rs4329742	0.81[ASN][1000 genomes]
rs4406890	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4569072	0.83[ASN][1000 genomes]
rs4964267	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964270	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4964271	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4964728	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6539132	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7138523	0.85[ASN][1000 genomes]
rs7297560	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7310505	0.96[ASN][1000 genomes]
rs7958851	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7975161	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104642000-104648600	Weak transcription	Hela-S3	cervix
2	chr12:104643000-104646600	Enhancers	A549	lung
3	chr12:104643000-104649000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:104643200-104646800	Weak transcription	K562	blood
5	chr12:104644800-104645400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:104644800-104645400	Enhancers	HSMMtube	muscle

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