Variant report

Variant	rs2077735
Chromosome Location	chr15:58479025-58479026
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:58260270..58262441-chr15:58476385..58479078,2	K562	blood:
2	chr15:58356916..58358526-chr15:58478594..58480634,2	K562	blood:
3	chr15:58471240..58473438-chr15:58477636..58480344,3	K562	blood:
4	chr15:58473604..58477327-chr15:58478403..58482264,4	K562	blood:

Variant related genes	Relation type
ENSG00000259285	Chromatin interaction
ENSG00000128918	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 24 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1001619	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs10851634	0.87[CEU][hapmap];0.81[CHB][hapmap]
rs11071369	0.87[CEU][hapmap];0.81[CHB][hapmap]
rs11071370	0.85[CEU][hapmap]
rs11854297	0.87[CEU][hapmap];0.81[CHB][hapmap]
rs1663248	1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs1711057	0.87[CEU][hapmap];0.81[CHB][hapmap]
rs1867380	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs1992587	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs2249783	0.87[CEU][hapmap];0.81[CHB][hapmap]
rs34717982	0.87[CEU][hapmap]
rs3858889	0.87[CEU][hapmap];0.81[CHB][hapmap]
rs3858890	0.87[CEU][hapmap];0.81[CHB][hapmap]
rs4775018	0.87[CEU][hapmap];0.81[CHB][hapmap]
rs56256638	0.95[EUR][1000 genomes]
rs56730211	0.95[EUR][1000 genomes]
rs6493985	0.86[ASN][1000 genomes]
rs6493986	0.86[ASN][1000 genomes]
rs717868	0.92[ASN][1000 genomes]
rs72743576	0.90[EUR][1000 genomes]
rs7496568	0.87[CEU][hapmap]
rs8035209	0.80[ASN][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	nsv1038667	chr15:57933076-58481870	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv542400	chr15:57933076-58481870	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1047246	chr15:58375607-58707158	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv833024	chr15:58447459-58621963	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2752813	chr15:58461006-58507064	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:24)

SNP	Gene	Cis/trans	Tissue	Source
rs2077735	EXPH5	trans	brain	seeQTL
rs2077735	CDH23	trans	brain	seeQTL
rs2077735	BARHL1	trans	brain	seeQTL
rs2077735	C16orf79	trans	brain	seeQTL
rs2077735	ESPNL	trans	brain	seeQTL
rs2077735	EOMES	trans	brain	seeQTL
rs2077735	TRIM73	trans	brain	seeQTL
rs2077735	CHD7	trans	brain	seeQTL
rs2077735	CRAMP1L	trans	brain	seeQTL
rs2077735	CBLN1	trans	brain	seeQTL
rs2077735	ZFPM2	trans	brain	seeQTL
rs2077735	SLC1A6	trans	brain	seeQTL
rs2077735	LDLRAD3	trans	brain	seeQTL
rs2077735	MPP3	trans	brain	seeQTL
rs2077735	PCP2	trans	brain	seeQTL
rs2077735	LHX1	trans	brain	seeQTL
rs2077735	MAB21L1	trans	brain	seeQTL
rs2077735	IL16	trans	brain	seeQTL
rs2077735	PKIB	trans	brain	seeQTL
rs2077735	FBXL6	trans	brain	seeQTL
rs2077735	EPHB1	trans	brain	seeQTL
rs2077735	SMC1A	trans	brain	seeQTL
rs2077735	CRTAM	trans	brain	seeQTL
rs2077735	ZNF34	trans	brain	seeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58451200-58481000	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr15:58471600-58481200	Weak transcription	Right Atrium	heart
3	chr15:58475200-58481000	Weak transcription	K562	blood
4	chr15:58477800-58479400	Weak transcription	Liver	Liver
5	chr15:58478400-58481400	Weak transcription	GM12878-XiMat	blood
6	chr15:58478800-58483800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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