Variant report

Variant	rs10505040
Chromosome Location	chr8:103945442-103945443
allele	C/G
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	EBF1	chr8:103945190-103945836	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:103945369-103945674	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103943378..103945919-chr8:103945978..103949181,3	MCF-7	breast:
2	chr8:103944911..103946439-chr8:103949626..103952620,2	K562	blood:
3	chr8:103937650..103939410-chr8:103943379..103945768,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253320	TF binding region
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1019975	1.00[CHB][hapmap]
rs12544232	0.92[ASN][1000 genomes]
rs12546634	1.00[CHB][hapmap]
rs12547200	1.00[CHB][hapmap]
rs12548745	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13123	1.00[CHB][hapmap]
rs1533182	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17197341	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs17775450	1.00[CHB][hapmap]
rs17775510	1.00[CHB][hapmap]
rs2304348	1.00[CHB][hapmap]
rs4734672	1.00[CHB][hapmap]
rs4734676	0.92[ASN][1000 genomes]
rs4734678	0.92[ASN][1000 genomes]
rs4734680	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56854051	0.92[ASN][1000 genomes]
rs62526533	0.96[ASN][1000 genomes]
rs62526534	0.96[ASN][1000 genomes]
rs62526535	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62526538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468846	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998032	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999267	1.00[CHB][hapmap]
rs6999525	0.96[ASN][1000 genomes]
rs7843670	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv891246	chr8:103928940-103967694	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103932200-103959400	Weak transcription	Fetal Brain Female	brain
2	chr8:103937800-103956000	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:103938200-103947200	Weak transcription	Right Atrium	heart
4	chr8:103940200-103972600	Weak transcription	Ovary	ovary
5	chr8:103942400-103948200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:103942400-103949200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:103943000-103948200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:103943000-103951800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:103943600-103952000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:103943800-103947200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:103943800-103973600	Weak transcription	Fetal Kidney	kidney
12	chr8:103944000-103948000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:103944000-103948000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:103944200-103946400	Enhancers	GM12878-XiMat	blood
15	chr8:103944200-103952000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr8:103944400-103947800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr8:103944600-103946000	Weak transcription	Pancreas	Pancrea
18	chr8:103945000-103953200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr8:103945200-103949600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:103945400-103945600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:103945400-103956800	Weak transcription	Brain Cingulate Gyrus	brain

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