Variant report

Variant	rs16939055
Chromosome Location	chr8:49824013-49824014
allele	G/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	GATA2	chr8:49824006-49824335	HUVEC	blood vessel:	n/a	chr8:49824156-49824166
2	POLR2A	chr8:49823893-49824454	SK-N-MC	brain:	n/a	n/a
3	REST	chr8:49823974-49824358	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49823570..49825612-chr8:49827229..49829086,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233109	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12155623	0.89[AFR][1000 genomes]
rs34236473	0.86[AFR][1000 genomes]
rs3750259	1.00[YRI][hapmap]
rs6472110	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6987879	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7011862	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7817186	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890854	chr8:49738821-49838908	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49816200-49830400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:49817800-49832200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:49818200-49824600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:49819200-49824600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:49819400-49824400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:49820400-49829200	Weak transcription	NHDF-Ad	bronchial
7	chr8:49822200-49825400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr8:49822800-49824200	Weak transcription	Fetal Kidney	kidney
9	chr8:49823200-49824600	Weak transcription	Lung	lung
10	chr8:49823200-49825200	Enhancers	Fetal Stomach	stomach
11	chr8:49823200-49827400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:49823400-49824600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:49823600-49824400	Enhancers	Fetal Heart	heart
14	chr8:49823800-49825000	Enhancers	Fetal Muscle Leg	muscle
15	chr8:49823800-49825200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr8:49823800-49825200	Enhancers	Ovary	ovary
17	chr8:49824000-49824200	Enhancers	HUVEC	blood vessel
18	chr8:49824000-49824400	Enhancers	Adipose Nuclei	Adipose
19	chr8:49824000-49824400	Enhancers	NH-A	brain
20	chr8:49824000-49824800	Flanking Active TSS	Fetal Lung	lung
21	chr8:49824000-49825000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr8:49824000-49825200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:49824000-49825200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:49824000-49831000	Weak transcription	Fetal Brain Male	brain

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