Variant report

Variant	rs12656576
Chromosome Location	chr5:76204395-76204396
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:76201621..76204477-chr5:76206976..76209585,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10038878	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10447163	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10942798	0.92[EUR][1000 genomes]
rs11742803	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12517004	0.84[ASN][1000 genomes]
rs12519617	0.84[ASN][1000 genomes]
rs13170714	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13186835	0.95[EUR][1000 genomes]
rs1700654	0.80[EUR][1000 genomes]
rs1700655	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1700657	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1700658	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1715764	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2359426	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2359427	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2657047	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2681668	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2681669	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35305638	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35871779	0.95[EUR][1000 genomes]
rs3903346	0.87[EUR][1000 genomes]
rs4254887	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58093808	0.85[ASN][1000 genomes]
rs60192097	0.85[ASN][1000 genomes]
rs62363088	0.85[ASN][1000 genomes]
rs62363089	0.88[ASN][1000 genomes]
rs62363095	0.88[ASN][1000 genomes]
rs6871700	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6872982	0.82[ASN][1000 genomes]
rs6879129	0.92[EUR][1000 genomes]
rs6884425	0.88[ASN][1000 genomes]
rs6887216	0.95[EUR][1000 genomes]
rs6890905	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6896257	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7722773	0.81[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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3393424	chr5:76122720-76287744	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv34133	chr5:76138696-76239330	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv1027236	chr5:76190936-76414733	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv830355	chr5:76194722-76368020	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12656576	CRHBP	cis	Esophagus Muscularis	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76197200-76205200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr5:76197600-76205200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr5:76197600-76212000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:76198400-76208200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:76199400-76208400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:76199400-76208800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:76201400-76205400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:76202400-76204400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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