Variant report

Variant	rs394312
Chromosome Location	chr6:13717338-13717339
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13614005..13616960-chr6:13716595..13718707,2	MCF-7	breast:
2	chr17:57919238..57922162-chr6:13717234..13718748,2	MCF-7	breast:
3	chr6:13658437..13687167-chr6:13707669..13717356,51	K562	blood:
4	chr6:13713710..13717343-chr6:13751875..13754798,3	MCF-7	breast:
5	chr6:13659651..13661542-chr6:13715805..13717920,2	MCF-7	breast:
6	chr6:13677099..13683232-chr6:13708060..13717356,16	K562	blood:
7	chr6:13710420..13715821-chr6:13716871..13724473,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252966	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000010017	Chromatin interaction
ENSG00000225921	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs204241	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs204243	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs204246	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs204247	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs24023	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs368512	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs371729	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs376024	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs379903	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs381560	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs396869	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405447	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs418053	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs420874	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs427140	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs441116	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs441125	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495572	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495633	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs571676	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[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	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv883451	chr6:13704341-13728670	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv883452	chr6:13704341-13733565	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	15 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	chr6:13714000-13718000	Weak transcription	Dnd41	blood
2	chr6:13714000-13722800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:13714000-13723400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr6:13716000-13718400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr6:13716400-13717400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:13716600-13717400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:13716600-13722800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:13716800-13717400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:13716800-13718000	Weak transcription	HepG2	liver
10	chr6:13717000-13717400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:13717200-13717400	Enhancers	Esophagus	oesophagus
12	chr6:13717200-13719400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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