Variant report

Variant	rs6984676
Chromosome Location	chr8:125311886-125311887
allele	C/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	POLR2A	chr8:125311736-125312067	A549	lung:	n/a	n/a
2	KAP1	chr8:125311844-125312007	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:125307378..125309336-chr8:125311046..125312762,2	K562	blood:
2	chr8:125292376..125294565-chr8:125310968..125313467,2	MCF-7	breast:
3	chr8:125311034..125312561-chr8:125362533..125365224,2	K562	blood:
4	chr8:125307836..125309390-chr8:125310949..125312546,2	K562	blood:

Variant related genes	Relation type
ENSG00000237586	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10091430	0.83[ASN][1000 genomes]
rs10096657	0.86[ASN][1000 genomes]
rs10111787	0.83[ASN][1000 genomes]
rs12680422	0.83[ASN][1000 genomes]
rs12680423	0.83[ASN][1000 genomes]
rs16899562	0.86[ASN][1000 genomes]
rs16899577	0.86[ASN][1000 genomes]
rs17297352	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17369737	0.86[ASN][1000 genomes]
rs17369758	0.86[ASN][1000 genomes]
rs28456315	0.86[ASN][1000 genomes]
rs28460280	0.86[ASN][1000 genomes]
rs28536158	0.86[ASN][1000 genomes]
rs28538795	0.86[ASN][1000 genomes]
rs28562339	0.86[ASN][1000 genomes]
rs28594441	0.86[ASN][1000 genomes]
rs28694575	0.86[ASN][1000 genomes]
rs28721926	0.86[ASN][1000 genomes]
rs28827823	0.86[ASN][1000 genomes]
rs4128778	0.83[ASN][1000 genomes]
rs4128779	0.83[ASN][1000 genomes]
rs4257989	0.83[ASN][1000 genomes]
rs4355753	0.86[ASN][1000 genomes]
rs4366066	0.83[ASN][1000 genomes]
rs4368958	0.83[ASN][1000 genomes]
rs4376483	0.83[ASN][1000 genomes]
rs4406374	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4503079	0.83[ASN][1000 genomes]
rs55679493	0.83[ASN][1000 genomes]
rs56166945	0.83[ASN][1000 genomes]
rs56225520	0.86[ASN][1000 genomes]
rs56342262	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56893629	0.83[ASN][1000 genomes]
rs58908685	0.83[ASN][1000 genomes]
rs6984691	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005950	0.83[ASN][1000 genomes]
rs7015493	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73332159	0.89[ASN][1000 genomes]
rs73332190	0.86[ASN][1000 genomes]
rs73333910	0.86[ASN][1000 genomes]
rs73333911	0.86[ASN][1000 genomes]
rs73333937	0.83[ASN][1000 genomes]
rs73333948	0.83[ASN][1000 genomes]
rs7386980	0.83[ASN][1000 genomes]
rs7388185	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	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv521356	chr8:125309055-125404763	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125301400-125329800	Weak transcription	HSMMtube	muscle
2	chr8:125304400-125313600	Weak transcription	Left Ventricle	heart
3	chr8:125304600-125317800	Weak transcription	Fetal Heart	heart
4	chr8:125306200-125328000	Weak transcription	A549	lung
5	chr8:125309400-125331000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:125310400-125312200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:125311200-125312800	Enhancers	Fetal Thymus	thymus
8	chr8:125311200-125333600	Weak transcription	Right Ventricle	heart
9	chr8:125311600-125312400	Weak transcription	Fetal Stomach	stomach
10	chr8:125311600-125312800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:125311600-125312800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:125311600-125312800	Enhancers	Dnd41	blood
13	chr8:125311800-125312400	Enhancers	Primary T cells from cord blood	blood
14	chr8:125311800-125312600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr8:125311800-125312600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr8:125311800-125312600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:125311800-125312800	Enhancers	Primary T helper cells PMA-I stimulated	--

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