Variant report

Variant	rs9364861
Chromosome Location	chr6:167044976-167044977
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	chr6:167044927-167045055	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167044666..167049346-chr6:167050228..167055763,8	K562	blood:
2	chr6:167042665..167045576-chr6:167045886..167047673,3	K562	blood:

Variant related genes	Relation type
RPS6KA2	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16899265	0.86[EUR][1000 genomes]
rs2223407	0.89[LWK][hapmap];0.86[YRI][hapmap]
rs3829842	0.86[EUR][1000 genomes]
rs4145431	1.00[CEU][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs4145432	0.89[LWK][hapmap];0.93[YRI][hapmap]
rs62438669	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6923603	0.95[CEU][hapmap]
rs916388	0.95[CEU][hapmap];0.90[MEX][hapmap]
rs916390	0.95[CEU][hapmap];0.90[MEX][hapmap]
rs9348156	1.00[CEU][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs9348157	0.89[LWK][hapmap];0.93[YRI][hapmap]
rs9356497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9364862	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9364863	0.89[LWK][hapmap];0.86[YRI][hapmap]
rs9366037	0.85[TSI][hapmap]
rs9457192	0.85[TSI][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9364861	DLL1	cis	parietal	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167042800-167046200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:167042800-167046800	Weak transcription	Psoas Muscle	Psoas
3	chr6:167042800-167049600	Weak transcription	Adipose Nuclei	Adipose
4	chr6:167042800-167050600	Weak transcription	Esophagus	oesophagus
5	chr6:167043000-167048000	Weak transcription	Fetal Brain Female	brain
6	chr6:167043400-167045000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
7	chr6:167043400-167045000	Enhancers	Lung	lung
8	chr6:167043400-167045600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:167043400-167058200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:167043600-167045000	Enhancers	GM12878-XiMat	blood
11	chr6:167043800-167045400	Weak transcription	Fetal Heart	heart
12	chr6:167043800-167046600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr6:167044000-167046400	Enhancers	Spleen	Spleen
14	chr6:167044200-167045000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr6:167044200-167046800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:167044200-167046800	Weak transcription	HSMMtube	muscle
17	chr6:167044200-167046800	Weak transcription	NHLF	lung
18	chr6:167044200-167047400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:167044400-167045000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:167044400-167045400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr6:167044400-167046200	Weak transcription	Right Atrium	heart
22	chr6:167044400-167046600	Weak transcription	NHDF-Ad	bronchial
23	chr6:167044600-167045000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:167044600-167045600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr6:167044600-167046200	Weak transcription	Left Ventricle	heart
26	chr6:167044600-167046200	Weak transcription	Right Ventricle	heart
27	chr6:167044600-167046200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr6:167044600-167046800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:167044600-167050000	Weak transcription	HUVEC	blood vessel
30	chr6:167044800-167045000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
31	chr6:167044800-167046200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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