Variant report

Variant	rs6927572
Chromosome Location	chr6:147176604-147176605
allele	A/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	JUN	chr6:147175193-147179604	K562	blood:	n/a	chr6:147178979-147178991 chr6:147176865-147176875 chr6:147176865-147176875 chr6:147178350-147178364 chr6:147177670-147177681
2	POLR2A	chr6:147176422-147177083	K562	blood:	n/a	n/a
3	POLR2A	chr6:147176583-147176938	K562	blood:	n/a	n/a
4	TEAD4	chr6:147176409-147177908	K562	blood:	n/a	n/a
5	PML	chr6:147175958-147176673	K562	blood:	n/a	n/a
6	POLR2A	chr6:147176013-147179639	K562	blood:	n/a	n/a
7	POLR2A	chr6:147175961-147179623	K562	blood:	n/a	n/a
8	POLR2A	chr6:147176012-147177871	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:147174648..147177437-chr6:147537739..147539649,2	K562	blood:
2	chr6:147176495..147178346-chr6:147523944..147526516,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227748	TF binding region
STXBP5-AS1	TF binding region
ENSG00000233452	Chromatin interaction
ENSG00000164506	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1052449	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs12665141	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1324679	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1324681	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1575612	0.80[ASN][1000 genomes]
rs2025505	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2025506	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2068333	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2328760	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs2328771	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2328772	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3861404	0.89[JPT][hapmap]
rs4535573	0.89[JPT][hapmap]
rs4896891	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4896893	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6915214	0.89[CEU][hapmap]
rs6927327	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9322078	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9373511	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9373512	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9377030	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9377031	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9386170	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9386171	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9386172	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9386173	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9390422	0.89[JPT][hapmap]
rs9390431	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9399585	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9399586	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9403819	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9403820	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9403821	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9403822	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9485129	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[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	nsv830838	chr6:147090745-147274669	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147163200-147178800	Weak transcription	Right Atrium	heart
2	chr6:147163400-147178800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:147172000-147178400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:147172200-147178800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:147172400-147176800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:147172800-147178800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:147173600-147178800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:147173800-147178600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr6:147173800-147178600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:147173800-147178600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:147173800-147178800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:147175200-147178800	Weak transcription	Gastric	stomach
13	chr6:147175600-147178800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:147176400-147176800	Active TSS	NHDF-Ad	bronchial
15	chr6:147176600-147177800	Transcr. at gene 5' and 3'	K562	blood

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