Variant report

Variant	rs7374376
Chromosome Location	chr3:48172687-48172688
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	chr3:48128600..48130489-chr3:48170606..48172772,2	K562	blood:

Variant related genes	Relation type
ENSG00000047849	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 32 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1045482	0.96[YRI][hapmap]
rs11130157	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11711766	0.95[EUR][1000 genomes]
rs12486714	0.81[JPT][hapmap]
rs12493256	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12494304	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12494396	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12495221	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12496784	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13099560	1.00[YRI][hapmap]
rs34422222	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34513961	0.81[EUR][1000 genomes]
rs34648110	0.86[EUR][1000 genomes]
rs34687996	0.80[AMR][1000 genomes]
rs35142214	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35648078	0.80[AMR][1000 genomes]
rs35942721	0.82[EUR][1000 genomes]
rs4599334	0.82[JPT][hapmap]
rs4858891	0.82[AMR][1000 genomes]
rs4858892	0.88[EUR][1000 genomes]
rs62262998	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62263001	0.82[EUR][1000 genomes]
rs6442101	0.82[JPT][hapmap]
rs6442105	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6442106	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6442107	0.87[EUR][1000 genomes]
rs6442108	1.00[CEU][hapmap];0.88[JPT][hapmap];0.95[EUR][1000 genomes]
rs6442109	1.00[CEU][hapmap];0.88[JPT][hapmap];0.95[EUR][1000 genomes]
rs6442110	0.80[CEU][hapmap]
rs6766754	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6771787	0.83[EUR][1000 genomes]
rs6771889	1.00[CEU][hapmap];0.88[JPT][hapmap];0.95[EUR][1000 genomes]
rs6775114	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6787500	0.93[YRI][hapmap]
rs6796490	0.96[YRI][hapmap]
rs6797587	0.92[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6800730	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6806112	0.80[CEU][hapmap];0.97[YRI][hapmap]
rs7429594	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7431293	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7617773	1.00[CEU][hapmap];0.87[JPT][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7619865	0.93[YRI][hapmap]
rs7642590	0.82[JPT][hapmap]
rs9822496	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9825114	0.82[JPT][hapmap]
rs9832957	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1001056	chr3:47912342-48223849	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1827272	chr3:47912703-48260968	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv1012828	chr3:47996472-48192862	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats 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	17 gene(s)	inside rSNPs	diseases
7	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv876760	chr3:48019258-48197614	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv834681	chr3:48032000-48181775	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1004557	chr3:48056534-48256694	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv1012024	chr3:48119229-48242670	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv834682	chr3:48138137-48311122	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:32)

SNP	Gene	Cis/trans	Tissue	Source
rs7374376	MRPS18AP1	cis	Whole Blood	GTEx
rs7374376	MRPS18AP1	cis	Esophagus Muscularis	GTEx
rs7374376	ZNF589	cis	Adipose Subcutaneous	GTEx
rs7374376	CDC25A	cis	Thyroid	GTEx
rs7374376	ZNF589	cis	Frontal Cortex	GTEx
rs7374376	DHX30	Cis_1M	lymphoblastoid	RTeQTL
rs7374376	MRPS18AP1	cis	Nerve Tibial	GTEx
rs7374376	MRPS18AP1	cis	Heart Left Ventricle	GTEx
rs7374376	ZNF589	cis	Thyroid	GTEx
rs7374376	MRPS18AP1	cis	Esophagus Mucosa	GTEx
rs7374376	ZNF589	cis	Whole Blood	GTEx
rs7374376	NME6	cis	Esophagus Muscularis	GTEx
rs7374376	ZNF589	cis	Stomach	GTEx
rs7374376	ZNF589	cis	Artery Tibial	GTEx
rs7374376	MRPS18AP1	cis	Adipose Subcutaneous	GTEx
rs7374376	ZNF589	cis	Esophagus Mucosa	GTEx
rs7374376	ZNF589	cis	Skin Sun Exposed Lower leg	GTEx
rs7374376	ZNF589	cis	lung	GTEx
rs7374376	MRPS18AP1	cis	Artery Tibial	GTEx
rs7374376	MRPS18AP1	cis	Thyroid	GTEx
rs7374376	MRPS18AP1	cis	Stomach	GTEx
rs7374376	FCF1P2	cis	Artery Tibial	GTEx
rs7374376	ZNF589	cis	Nerve Tibial	GTEx
rs7374376	ZNF589	cis	Temporal Cortex	GTEx
rs7374376	MRPS18AP1	cis	lung	GTEx
rs7374376	CDC25A	cis	Artery Tibial	GTEx
rs7374376	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs7374376	ZNF589	cis	Cerebellum	GTEx
rs7374376	MRPS18AP1	cis	Skin Sun Exposed Lower leg	GTEx
rs7374376	ZNF589	cis	Brain Pons	GTEx
rs7374376	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs7374376	CDC25A	cis	Muscle Skeletal	GTEx

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48167000-48177400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:48167200-48178800	Weak transcription	NHEK	skin
3	chr3:48167800-48181800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:48170600-48174000	Weak transcription	GM12878-XiMat	blood
5	chr3:48170800-48173200	Enhancers	Fetal Stomach	stomach
6	chr3:48170800-48177200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:48170800-48178800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:48171000-48173000	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr3:48171000-48173000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr3:48171000-48173000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr3:48171000-48173000	Enhancers	Spleen	Spleen
12	chr3:48171200-48172800	Enhancers	Brain Cingulate Gyrus	brain
13	chr3:48171200-48172800	Enhancers	Esophagus	oesophagus
14	chr3:48171200-48173000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr3:48171200-48173000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:48171200-48173000	Enhancers	Brain Anterior Caudate	brain
17	chr3:48171200-48173000	Enhancers	Colonic Mucosa	Colon
18	chr3:48171200-48173000	Enhancers	Left Ventricle	heart
19	chr3:48171200-48173000	Enhancers	Ovary	ovary
20	chr3:48171200-48173000	Enhancers	HSMMtube	muscle
21	chr3:48171200-48173000	Enhancers	NH-A	brain
22	chr3:48171200-48173000	Enhancers	NHDF-Ad	bronchial
23	chr3:48171200-48173000	Enhancers	NHLF	lung
24	chr3:48171200-48173200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr3:48171200-48173200	Enhancers	Fetal Muscle Trunk	muscle
26	chr3:48171200-48173600	Enhancers	Fetal Muscle Leg	muscle
27	chr3:48171400-48172800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr3:48171400-48172800	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr3:48171400-48173000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:48171400-48173000	Enhancers	Brain Angular Gyrus	brain
31	chr3:48171400-48173000	Enhancers	Colon Smooth Muscle	Colon
32	chr3:48171400-48173000	Enhancers	Fetal Heart	heart
33	chr3:48171400-48173000	Enhancers	Fetal Intestine Small	intestine
34	chr3:48171400-48173000	Enhancers	Fetal Thymus	thymus
35	chr3:48171400-48173000	Enhancers	HSMM	muscle
36	chr3:48171400-48173600	Enhancers	Placenta	Placenta
37	chr3:48171600-48172800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:48171600-48172800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr3:48171600-48172800	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr3:48171600-48173000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:48171600-48173000	Enhancers	HUVEC	blood vessel
42	chr3:48171800-48172800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:48171800-48173000	Enhancers	Brain Germinal Matrix	brain
44	chr3:48171800-48173000	Enhancers	Stomach Mucosa	stomach
45	chr3:48172000-48173000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:48172000-48173000	Enhancers	Right Ventricle	heart
47	chr3:48172000-48173200	Enhancers	Lung	lung
48	chr3:48172200-48172800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr3:48172200-48172800	Enhancers	Duodenum Mucosa	Duodenum
50	chr3:48172200-48173000	Enhancers	Right Atrium	heart

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