Variant report

Variant	rs62514987
Chromosome Location	chr8:107784875-107784876
allele	A/C
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	POLR2A	chr8:107784693-107785128	HUVEC	blood vessel:	n/a	n/a
2	GATA3	chr8:107784865-107785309	T-47D	breast:	n/a	chr8:107784999-107785011 chr8:107784997-107785013 chr8:107785219-107785226
3	GATA3	chr8:107784515-107785369	MCF-7	breast:	n/a	chr8:107784825-107784832 chr8:107784999-107785011 chr8:107784997-107785013 chr8:107785219-107785226
4	GATA3	chr8:107784680-107785359	T-47D	breast:	n/a	chr8:107784825-107784832 chr8:107784999-107785011 chr8:107784997-107785013 chr8:107785219-107785226
5	GATA3	chr8:107784696-107785146	SK-N-SH	brain:	n/a	chr8:107784825-107784832 chr8:107784999-107785011 chr8:107784997-107785013
6	GATA2	chr8:107784574-107785303	HUVEC	blood vessel:	n/a	chr8:107784825-107784832 chr8:107784999-107785011 chr8:107784997-107785013 chr8:107785219-107785226
7	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: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11985106	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11990726	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11991842	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11993732	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11996910	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13260161	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2170909	0.81[ASN][1000 genomes]
rs28921379	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28921401	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28924697	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28924705	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28924708	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28924709	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57222442	0.81[ASN][1000 genomes]
rs59850440	0.87[AMR][1000 genomes]
rs62514961	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62514962	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62514964	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62514966	0.89[EUR][1000 genomes]
rs62514967	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62514968	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62514985	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62514986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514988	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514989	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514990	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62514991	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62514992	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62514993	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62514994	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62514995	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62514998	0.95[EUR][1000 genomes]
rs62515019	0.85[ASN][1000 genomes]
rs62515020	0.85[ASN][1000 genomes]
rs62515026	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62515027	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62515028	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62515052	0.81[ASN][1000 genomes]
rs62515053	0.81[ASN][1000 genomes]
rs62517940	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7818768	0.82[EUR][1000 genomes];0.81[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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107776000-107785000	Weak transcription	HSMMtube	muscle
2	chr8:107777800-107785000	Weak transcription	NHLF	lung
3	chr8:107778000-107785000	Weak transcription	Fetal Lung	lung
4	chr8:107778200-107785000	Weak transcription	Brain Hippocampus Middle	brain
5	chr8:107779200-107785000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:107779800-107785000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:107782600-107785000	Weak transcription	Left Ventricle	heart
8	chr8:107782600-107785000	Weak transcription	Psoas Muscle	Psoas
9	chr8:107782600-107785000	Weak transcription	Right Atrium	heart
10	chr8:107782600-107785000	Weak transcription	Right Ventricle	heart
11	chr8:107783200-107785800	Enhancers	Fetal Heart	heart
12	chr8:107783200-107798400	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:107783600-107785400	Enhancers	Fetal Muscle Leg	muscle
14	chr8:107784000-107785000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:107784000-107785000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr8:107784000-107785000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr8:107784200-107785000	Weak transcription	Fetal Kidney	kidney
18	chr8:107784200-107785400	Flanking Active TSS	NHEK	skin
19	chr8:107784400-107785000	Enhancers	Fetal Brain Male	brain
20	chr8:107784600-107785000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:107784600-107785000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr8:107784600-107785000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:107784600-107785200	Enhancers	Placenta	Placenta
24	chr8:107784600-107785400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:107784600-107785400	Enhancers	Fetal Stomach	stomach
26	chr8:107784800-107785200	Flanking Active TSS	HUVEC	blood vessel
27	chr8:107784800-107785400	Enhancers	Adipose Nuclei	Adipose
28	chr8:107784800-107785400	Enhancers	Brain Cingulate Gyrus	brain
29	chr8:107784800-107785400	Enhancers	Fetal Brain Female	brain
30	chr8:107784800-107785800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr8:107784800-107785800	Weak transcription	Fetal Muscle Trunk	muscle

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