Variant report

Variant	rs12545256
Chromosome Location	chr8:96211820-96211821
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr8:96211812-96212226	K562	blood:	n/a	n/a
2	RCOR1	chr8:96211566-96212290	K562	blood:	n/a	n/a
3	GATA1	chr8:96211419-96212574	K562	blood:	n/a	chr8:96212138-96212148
4	NR2F2	chr8:96211794-96212254	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:96210411..96213768-chr8:96214869..96218158,4	K562	blood:
2	chr8:96145520..96147593-chr8:96211677..96214625,3	MCF-7	breast:
3	chr8:96210411..96214534-chr8:96214869..96218158,4	K562	blood:
4	chr8:96171786..96172477-chr8:96211697..96212423,2	MCF-7	breast:
5	chr8:96205463..96207920-chr8:96210246..96213783,6	MCF-7	breast:
6	chr8:96210702..96213000-chr8:96259520..96261197,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253773	TF binding region
ENSG00000175895	Chromatin interaction
ENSG00000253773	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12155751	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12155945	0.85[ASN][1000 genomes]
rs13256395	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13257907	0.81[MEX][hapmap]
rs13270120	0.93[AFR][1000 genomes]
rs13274086	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56001003	0.81[ASN][1000 genomes]
rs62522644	0.81[ASN][1000 genomes]
rs62522646	0.81[ASN][1000 genomes]
rs7817880	0.92[CEU][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes]
rs7825383	0.83[AFR][1000 genomes]
rs7825673	0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs7836889	0.92[CEU][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv523655	chr8:96205920-96239113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv16466	chr8:96206151-96243934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv516035	chr8:96208726-96235451	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv465740	chr8:96211820-96235451	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv611758	chr8:96211820-96235451	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96204600-96212400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:96205000-96213400	Weak transcription	Lung	lung
3	chr8:96205600-96213800	Weak transcription	Thymus	Thymus
4	chr8:96206400-96215000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:96207400-96212800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:96208400-96212000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr8:96208600-96216400	Weak transcription	Gastric	stomach
8	chr8:96209000-96220000	Weak transcription	Right Ventricle	heart
9	chr8:96210200-96212600	Weak transcription	Pancreas	Pancrea
10	chr8:96210200-96214600	Enhancers	Hela-S3	cervix
11	chr8:96210400-96212600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:96210400-96212600	Weak transcription	Esophagus	oesophagus
13	chr8:96210800-96212600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:96210800-96212600	Weak transcription	A549	lung
15	chr8:96210800-96214000	Weak transcription	Placenta	Placenta
16	chr8:96211000-96212400	Weak transcription	HMEC	breast
17	chr8:96211000-96212800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:96211200-96212000	Weak transcription	Stomach Mucosa	stomach
19	chr8:96211200-96212600	Weak transcription	NHEK	skin
20	chr8:96211400-96212400	Weak transcription	Fetal Thymus	thymus
21	chr8:96211400-96212600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:96211600-96212400	Enhancers	HepG2	liver
23	chr8:96211800-96212000	Enhancers	Right Atrium	heart
24	chr8:96211800-96212000	Flanking Active TSS	K562	blood
25	chr8:96211800-96214200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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