Variant report

Variant	rs455318
Chromosome Location	chr5:118758021-118758022
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs2451804	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2451818	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457221	0.84[EUR][1000 genomes]
rs2459726	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs257981	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs258049	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs258052	0.95[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs26181	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs26184	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs2636961	1.00[JPT][hapmap];0.86[YRI][hapmap]
rs2636964	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs2636968	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs2678070	1.00[CHB][hapmap]
rs27938	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs32640	0.80[AFR][1000 genomes]
rs32651	1.00[CHB][hapmap]
rs382719	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs422297	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs426899	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs439954	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs442923	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs450118	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs461108	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs462756	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs463513	1.00[CHB][hapmap]
rs465091	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs467076	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4895191	0.91[EUR][1000 genomes]
rs6875595	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs7720373	0.91[EUR][1000 genomes]
rs7720678	0.91[EUR][1000 genomes]
rs7721602	0.96[CEU][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv965533	chr5:118738884-118762384	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv4974	chr5:118750259-118795376	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs455318	HSD17B4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118753800-118758400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr5:118753800-118762800	Weak transcription	Colon Smooth Muscle	Colon
3	chr5:118754400-118758200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:118754800-118758200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:118754800-118762200	Weak transcription	K562	blood
6	chr5:118755000-118759400	Enhancers	Liver	Liver
7	chr5:118756200-118762200	Weak transcription	Stomach Mucosa	stomach
8	chr5:118756400-118761600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:118756600-118761800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:118756800-118758200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr5:118756800-118758400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr5:118756800-118761600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr5:118756800-118761800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:118756800-118762400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr5:118756800-118762800	Weak transcription	Placenta	Placenta
16	chr5:118757200-118761800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr5:118757200-118762000	Weak transcription	Primary B cells from cord blood	blood
18	chr5:118758000-118758400	Enhancers	Esophagus	oesophagus
19	chr5:118758000-118758600	Enhancers	NHEK	skin
20	chr5:118758000-118758800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:118758000-118759000	Enhancers	Adipose Nuclei	Adipose
22	chr5:118758000-118759800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:118758000-118759800	Enhancers	HMEC	breast

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