Variant report

Variant	rs9348156
Chromosome Location	chr6:167044079-167044080
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	ELF1	chr6:167043953-167044246	K562	blood:	n/a	chr6:167044055-167044068

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167042473..167044859-chr6:167051026..167053525,2	MCF-7	breast:
2	chr6:167042665..167045576-chr6:167045886..167047673,3	K562	blood:

Variant related genes	Relation type
RPS6KA2	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10484525	0.84[TSI][hapmap]
rs12174679	0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16899265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1984413	0.83[TSI][hapmap]
rs3829842	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4145431	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62438669	0.82[EUR][1000 genomes]
rs6923603	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6941412	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7741396	0.84[TSI][hapmap]
rs7755114	0.84[TSI][hapmap]
rs916388	0.95[CEU][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs916390	0.95[CEU][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9295357	0.84[TSI][hapmap]
rs9347142	0.84[JPT][hapmap]
rs9348162	0.84[TSI][hapmap]
rs9348164	0.84[TSI][hapmap]
rs9356497	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs9364861	1.00[CEU][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs9364862	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs963302	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv432984	chr6:167018915-167181613	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023649	chr6:167026469-167060732	Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167042200-167044200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:167042200-167044200	Enhancers	HSMMtube	muscle
3	chr6:167042600-167044200	Enhancers	NHLF	lung
4	chr6:167042600-167044400	Enhancers	NHDF-Ad	bronchial
5	chr6:167042600-167044600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:167042600-167044600	Enhancers	HUVEC	blood vessel
7	chr6:167042600-167044600	Enhancers	NH-A	brain
8	chr6:167042800-167044200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr6:167042800-167044600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:167042800-167044600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr6:167042800-167044800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr6:167042800-167046200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:167042800-167046800	Weak transcription	Psoas Muscle	Psoas
14	chr6:167042800-167049600	Weak transcription	Adipose Nuclei	Adipose
15	chr6:167042800-167050600	Weak transcription	Esophagus	oesophagus
16	chr6:167043000-167048000	Weak transcription	Fetal Brain Female	brain
17	chr6:167043400-167044600	Enhancers	Left Ventricle	heart
18	chr6:167043400-167044600	Enhancers	Right Ventricle	heart
19	chr6:167043400-167045000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
20	chr6:167043400-167045000	Enhancers	Lung	lung
21	chr6:167043400-167045600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:167043400-167058200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:167043600-167044200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:167043600-167044200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr6:167043600-167044200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:167043600-167045000	Enhancers	GM12878-XiMat	blood
27	chr6:167043800-167044200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:167043800-167045400	Weak transcription	Fetal Heart	heart
29	chr6:167043800-167046600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr6:167044000-167044400	Enhancers	Right Atrium	heart
31	chr6:167044000-167044600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr6:167044000-167046400	Enhancers	Spleen	Spleen

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