Variant report

Variant	rs275721
Chromosome Location	chr15:40115920-40115921
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1021410	0.88[CEU][hapmap]
rs1021411	0.83[CEU][hapmap]
rs1166716	0.81[CEU][hapmap]
rs1166723	0.81[CEU][hapmap]
rs1166777	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1565559	0.85[CEU][hapmap]
rs1565561	0.84[CEU][hapmap]
rs172104	0.92[YRI][hapmap];0.82[AFR][1000 genomes]
rs1844863	0.83[CEU][hapmap]
rs1906163	0.81[CEU][hapmap]
rs2029584	0.81[CEU][hapmap]
rs2576932	0.81[CEU][hapmap]
rs2576933	0.81[CEU][hapmap]
rs2631714	0.81[CEU][hapmap]
rs2638009	0.80[CEU][hapmap]
rs275718	0.83[AFR][1000 genomes]
rs275720	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4924389	0.81[CEU][hapmap]
rs676455	0.83[AFR][1000 genomes]
rs683676	0.83[AMR][1000 genomes]
rs7179417	0.84[CEU][hapmap]
rs7179742	0.81[CEU][hapmap]
rs7179838	0.85[CEU][hapmap]
rs7180846	0.89[CEU][hapmap]
rs8031241	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv832979	chr15:40041928-40218407	Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv832983	chr15:40098766-40248839	Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs275721	RPAP1	cis	parietal	SCAN
rs275721	C15orf54	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40094400-40120400	Weak transcription	HSMMtube	muscle
2	chr15:40096200-40120400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:40099400-40116600	Weak transcription	HSMM	muscle
4	chr15:40103000-40121400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:40104000-40116600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:40110400-40129800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr15:40111600-40123400	Weak transcription	Aorta	Aorta
8	chr15:40112600-40116200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr15:40112600-40120600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:40112600-40121400	Weak transcription	Right Atrium	heart
11	chr15:40112800-40120000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr15:40112800-40120200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:40112800-40120400	Weak transcription	Osteobl	bone
14	chr15:40113200-40116200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr15:40114200-40118000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr15:40114400-40120200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:40114400-40121400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr15:40115000-40116000	Strong transcription	NHLF	lung
19	chr15:40115200-40116000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr15:40115600-40116000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr15:40115600-40116200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr15:40115600-40116400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:40115600-40119200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr15:40115800-40116000	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr15:40115800-40116200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr15:40115800-40120400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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