Variant report

Variant	rs6840053
Chromosome Location	chr4:120292233-120292234
allele	A/T
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:20)

rs_ID	r²[population]
rs10020420	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11935130	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11946739	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12646466	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12647635	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1858285	0.83[ASN][1000 genomes]
rs28421394	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28848291	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28864107	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3905917	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4440203	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4834768	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4834769	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4834773	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55827028	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56344202	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62322287	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62328407	0.82[ASN][1000 genomes]
rs62328426	0.84[ASN][1000 genomes]
rs7681328	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv879841	chr4:120244085-120388406	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv879842	chr4:120244085-120424087	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv427694	chr4:120250511-120501728	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv2538163	chr4:120252854-120388678	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6840053	FABP2	cis	Whole Blood	GTEx
rs6840053	FABP2	cis	Heart Left Ventricle	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120269600-120293000	Weak transcription	Fetal Heart	heart
2	chr4:120291000-120292600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:120291000-120292800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr4:120291200-120292400	Enhancers	Primary hematopoietic stem cells	blood
5	chr4:120291200-120292600	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr4:120291200-120292800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr4:120291200-120292800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr4:120291200-120293800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr4:120291400-120292400	Enhancers	Primary B cells from peripheral blood	blood
10	chr4:120291400-120292400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:120291400-120292400	Enhancers	GM12878-XiMat	blood
12	chr4:120291400-120292600	Enhancers	Fetal Thymus	thymus
13	chr4:120291400-120292600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr4:120291600-120292400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:120291600-120292400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr4:120291600-120292400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:120291600-120292400	Enhancers	Dnd41	blood
18	chr4:120291600-120292400	Bivalent/Poised TSS	HepG2	liver
19	chr4:120291600-120292600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr4:120291600-120293800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:120291800-120292400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr4:120291800-120292400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr4:120291800-120292400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:120291800-120292400	Enhancers	Brain Substantia Nigra	brain
25	chr4:120291800-120292600	Enhancers	Primary B cells from cord blood	blood
26	chr4:120291800-120292600	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr4:120292000-120292400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr4:120292000-120293400	Weak transcription	Left Ventricle	heart
29	chr4:120292000-120294200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr4:120292200-120292400	Enhancers	Fetal Kidney	kidney
31	chr4:120292200-120292600	Enhancers	Fetal Intestine Large	intestine
32	chr4:120292200-120295400	Weak transcription	Thymus	Thymus

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