Variant report

Variant	rs56344202
Chromosome Location	chr4:120228425-120228426
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10020420	0.81[EUR][1000 genomes]
rs10518301	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11722847	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11732403	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11935130	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11937425	0.82[ASN][1000 genomes]
rs11946739	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12645079	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12645965	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12646466	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12647635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12649811	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12650267	0.88[ASN][1000 genomes]
rs13118936	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13139118	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs17049968	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17642800	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1858285	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28421394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28848291	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28864107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34049297	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs35372126	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3905917	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4364243	0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4833614	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4834768	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4834769	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4834773	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55827028	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56072232	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62328371	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62328372	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62328373	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62328374	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62328376	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62328377	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62328379	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62328398	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62328407	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62328426	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6840053	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7681328	0.88[EUR][1000 genomes];0.88[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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv428769	chr4:120205572-120363323	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv879840	chr4:120227419-120257417	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs56344202	FABP2	cis	Heart Left Ventricle	GTEx
rs56344202	FABP2	cis	Whole Blood	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120222000-120251000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:120222200-120244600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:120222400-120229000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:120222400-120240800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:120222800-120240800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:120225000-120238800	Weak transcription	Fetal Intestine Small	intestine
7	chr4:120228000-120228600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:120228000-120229200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr4:120228200-120238600	Weak transcription	Fetal Intestine Large	intestine
10	chr4:120228400-120232400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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