Variant report

Variant	rs12680728
Chromosome Location	chr8:96230688-96230689
allele	C/T
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	RUNX3	chr8:96230287-96230721	GM12878	blood:	n/a	n/a
2	MTA3	chr8:96230420-96230924	GM12878	blood:	n/a	n/a
3	MEF2A	chr8:96230373-96230822	GM12878	blood:	n/a	chr8:96230660-96230674
4	EP300	chr8:96230151-96230915	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:96145268..96146858-chr8:96230035..96232960,2	MCF-7	breast:
2	chr8:96222002..96228732-chr8:96228964..96237755,16	MCF-7	breast:
3	chr8:96228952..96231247-chr8:96237951..96240683,3	MCF-7	breast:
4	chr8:96229120..96231629-chr8:96232251..96235212,3	MCF-7	breast:
5	chr8:96230420..96235229-chr8:96280327..96282960,4	MCF-7	breast:
6	chr8:96229389..96231464-chr8:96247771..96249721,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253351	TF binding region
ENSG00000253773	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000253351	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12056575	0.85[AMR][1000 genomes]
rs58133437	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
8	nsv6315	chr8:96216465-96261671	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv465741	chr8:96221122-96247835	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv611759	chr8:96221122-96247835	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv988068	chr8:96228317-96235618	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96214400-96233400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:96219800-96251800	Enhancers	Primary B cells from peripheral blood	blood
3	chr8:96223600-96237200	Weak transcription	Fetal Intestine Small	intestine
4	chr8:96225400-96232800	Weak transcription	Esophagus	oesophagus
5	chr8:96225600-96236200	Weak transcription	Gastric	stomach
6	chr8:96226600-96231800	Enhancers	K562	blood
7	chr8:96227000-96231200	Weak transcription	Psoas Muscle	Psoas
8	chr8:96227000-96232400	Weak transcription	Pancreas	Pancrea
9	chr8:96227400-96232800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:96227400-96233600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr8:96227600-96231200	Weak transcription	Adipose Nuclei	Adipose
12	chr8:96227600-96231200	Weak transcription	Right Ventricle	heart
13	chr8:96227600-96231600	Weak transcription	Right Atrium	heart
14	chr8:96227600-96232800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr8:96227800-96233000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr8:96228000-96238800	Weak transcription	Thymus	Thymus
17	chr8:96228400-96231200	Weak transcription	Spleen	Spleen
18	chr8:96228400-96232200	Weak transcription	Primary T cells from cord blood	blood
19	chr8:96228800-96231200	Weak transcription	Placenta	Placenta
20	chr8:96228800-96231600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:96228800-96237600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr8:96229000-96235400	Weak transcription	Aorta	Aorta
23	chr8:96229200-96231000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr8:96230000-96231800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:96230200-96230800	Enhancers	Fetal Heart	heart
26	chr8:96230200-96230800	Flanking Active TSS	HepG2	liver
27	chr8:96230200-96231000	Enhancers	Primary T cells fromperipheralblood	blood
28	chr8:96230200-96231000	Enhancers	Fetal Thymus	thymus
29	chr8:96230200-96231600	Enhancers	GM12878-XiMat	blood
30	chr8:96230200-96233200	Enhancers	Left Ventricle	heart
31	chr8:96230400-96231000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:96230400-96231200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:96230400-96231800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:96230400-96231800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr8:96230400-96233000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr8:96230400-96234000	Enhancers	Fetal Muscle Trunk	muscle
37	chr8:96230600-96231000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr8:96230600-96231200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:96230600-96231600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr8:96230600-96232600	Weak transcription	Lung	lung
41	chr8:96230600-96232800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr8:96230600-96233800	Enhancers	Fetal Muscle Leg	muscle
43	chr8:96230600-96235600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr8:96230600-96235600	Weak transcription	Stomach Mucosa	stomach

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