Variant report

Variant	rs2457221
Chromosome Location	chr5:118761541-118761542
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	chr5:118760077..118762768-chr5:118762980..118764985,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs2259347	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs2451804	0.90[EUR][1000 genomes]
rs2451816	0.87[CHB][hapmap];0.92[JPT][hapmap]
rs2451818	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2546210	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs25640	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs257970	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs257972	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs257973	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs257974	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs257981	0.90[EUR][1000 genomes]
rs258049	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs258052	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs26180	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs2945327	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs32659	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs32662	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs32665	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs455318	0.84[EUR][1000 genomes]
rs455949	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs461108	0.88[CEU][hapmap];0.95[CHB][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs462756	0.84[EUR][1000 genomes]
rs463098	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs465091	0.92[CHB][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4895191	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4895371	0.84[ASN][1000 genomes]
rs4895372	0.92[CHB][hapmap];0.84[ASN][1000 genomes]
rs6875595	0.95[CHB][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7720373	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7720678	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7721602	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][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
rs2457221	HSD17B4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118753800-118762800	Weak transcription	Colon Smooth Muscle	Colon
2	chr5:118754800-118762200	Weak transcription	K562	blood
3	chr5:118756200-118762200	Weak transcription	Stomach Mucosa	stomach
4	chr5:118756400-118761600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:118756600-118761800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:118756800-118761600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:118756800-118761800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:118756800-118762400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:118756800-118762800	Weak transcription	Placenta	Placenta
10	chr5:118757200-118761800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr5:118757200-118762000	Weak transcription	Primary B cells from cord blood	blood
12	chr5:118759000-118762000	Weak transcription	Adipose Nuclei	Adipose
13	chr5:118759400-118762200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:118761200-118762000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:118761400-118763200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr5:118761400-118765000	Enhancers	Primary monocytes fromperipheralblood	blood

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