Variant report

Variant	rs2279357
Chromosome Location	chr15:74630623-74630624
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:74628941..74630782-chr15:74637819..74639455,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11072478	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs11072479	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12898858	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12913682	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12914852	0.87[EUR][1000 genomes]
rs12916123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1484216	0.84[CEU][hapmap]
rs1564782	0.96[CEU][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs1843090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1843091	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2277601	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs2277602	0.96[CEU][hapmap];0.84[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2277605	0.83[EUR][1000 genomes]
rs2277606	0.88[EUR][1000 genomes]
rs2279356	0.96[CEU][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs2415239	0.80[EUR][1000 genomes]
rs2930300	0.84[CEU][hapmap]
rs2930302	0.84[CEU][hapmap]
rs2930304	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2930305	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2930306	0.83[ASW][hapmap];1.00[CEU][hapmap];0.93[LWK][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.86[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2959002	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2959004	0.96[CEU][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2959006	0.84[CEU][hapmap]
rs2959007	0.84[CEU][hapmap]
rs2959008	0.84[CEU][hapmap]
rs4077581	0.96[CEU][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs4077582	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs41556118	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4555110	0.84[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs6495096	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7167038	0.82[AFR][1000 genomes]
rs7174179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7180256	1.00[YRI][hapmap]
rs8031121	0.81[CEU][hapmap]
rs8031424	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs900802	0.92[CEU][hapmap];0.91[TSI][hapmap];0.86[EUR][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	nsv428641	chr15:74555113-74724630	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482615	chr15:74593625-74757962	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2279357	C15orf28	cis	cerebellum	SCAN
rs2279357	C15orf39	cis	lymphoblastoid	seeQTL
rs2279357	C15orf39	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74612000-74657800	Weak transcription	Right Atrium	heart
2	chr15:74622600-74638600	Weak transcription	Spleen	Spleen
3	chr15:74627400-74631800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:74628000-74642200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr15:74628400-74630800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:74628400-74632200	Genic enhancers	Placenta	Placenta
7	chr15:74628600-74632000	Enhancers	Hela-S3	cervix
8	chr15:74629400-74632200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr15:74629400-74632200	Weak transcription	Osteobl	bone
10	chr15:74629400-74632400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:74629600-74632000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:74629600-74632200	Weak transcription	HSMM	muscle
13	chr15:74629600-74632400	Weak transcription	NH-A	brain
14	chr15:74629800-74631200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:74629800-74632000	Weak transcription	NHDF-Ad	bronchial
16	chr15:74630000-74632200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:74630400-74631800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:74630600-74630800	Enhancers	Esophagus	oesophagus

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