Variant report

Variant	rs12056528
Chromosome Location	chr8:107785244-107785245
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr8:107784865-107785309	T-47D	breast:	n/a	chr8:107784999-107785011 chr8:107784997-107785013 chr8:107785219-107785226
2	GATA3	chr8:107784515-107785369	MCF-7	breast:	n/a	chr8:107784825-107784832 chr8:107784999-107785011 chr8:107784997-107785013 chr8:107785219-107785226
3	GATA3	chr8:107784680-107785359	T-47D	breast:	n/a	chr8:107784825-107784832 chr8:107784999-107785011 chr8:107784997-107785013 chr8:107785219-107785226
4	GATA2	chr8:107784574-107785303	HUVEC	blood vessel:	n/a	chr8:107784825-107784832 chr8:107784999-107785011 chr8:107784997-107785013 chr8:107785219-107785226
5	GATA3	chr8:107784682-107785394	MCF-7	breast:	n/a	chr8:107784825-107784832 chr8:107784999-107785011 chr8:107784997-107785013 chr8:107785219-107785226

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:107780431..107782315-chr8:107783713..107785641,2	K562	blood:
2	chr8:107784254..107786667-chr8:107794076..107796318,2	K562	blood:

Variant related genes	Relation type
ABRA	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11988518	0.83[ASN][1000 genomes]
rs11990338	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11996457	0.92[ASN][1000 genomes]
rs12675956	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12676199	0.90[ASN][1000 genomes]
rs12681427	0.85[ASN][1000 genomes]
rs12681916	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1542644	0.85[ASN][1000 genomes]
rs16875079	0.90[ASN][1000 genomes]
rs1954790	0.85[ASN][1000 genomes]
rs2881423	0.85[ASN][1000 genomes]
rs6469077	0.85[ASN][1000 genomes]
rs6983111	0.85[ASN][1000 genomes]
rs6983210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7817274	0.85[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	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1032991	chr8:107756661-107819035	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv611846	chr8:107778324-107819368	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107783200-107785800	Enhancers	Fetal Heart	heart
2	chr8:107783200-107798400	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:107783600-107785400	Enhancers	Fetal Muscle Leg	muscle
4	chr8:107784200-107785400	Flanking Active TSS	NHEK	skin
5	chr8:107784600-107785400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:107784600-107785400	Enhancers	Fetal Stomach	stomach
7	chr8:107784800-107785400	Enhancers	Adipose Nuclei	Adipose
8	chr8:107784800-107785400	Enhancers	Brain Cingulate Gyrus	brain
9	chr8:107784800-107785400	Enhancers	Fetal Brain Female	brain
10	chr8:107784800-107785800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:107784800-107785800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr8:107785000-107785400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr8:107785000-107785400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:107785000-107785400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:107785000-107785400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:107785000-107785400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:107785000-107785400	Enhancers	Brain Angular Gyrus	brain
18	chr8:107785000-107785400	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr8:107785000-107785400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr8:107785000-107785400	Flanking Active TSS	Fetal Brain Male	brain
21	chr8:107785000-107785400	Enhancers	Fetal Kidney	kidney
22	chr8:107785000-107785400	Flanking Active TSS	Fetal Lung	lung
23	chr8:107785000-107785400	Enhancers	Left Ventricle	heart
24	chr8:107785000-107785400	Enhancers	Psoas Muscle	Psoas
25	chr8:107785000-107785400	Enhancers	Right Atrium	heart
26	chr8:107785000-107785400	Enhancers	Right Ventricle	heart
27	chr8:107785000-107785400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr8:107785000-107785400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr8:107785000-107785400	Active TSS	Stomach Smooth Muscle	stomach
30	chr8:107785000-107785400	Enhancers	HSMMtube	muscle
31	chr8:107785000-107785400	Enhancers	NHDF-Ad	bronchial
32	chr8:107785000-107785400	Flanking Active TSS	NHLF	lung
33	chr8:107785000-107785600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:107785000-107785600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr8:107785000-107785800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:107785000-107785800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:107785000-107785800	Enhancers	Brain Anterior Caudate	brain
38	chr8:107785000-107785800	Enhancers	Brain Substantia Nigra	brain
39	chr8:107785200-107785400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr8:107785200-107785600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:107785200-107785600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:107785200-107785800	Enhancers	HUVEC	blood vessel

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