Variant report

Variant	rs4895372
Chromosome Location	chr5:118741776-118741777
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:118735517..118740583-chr5:118741661..118745688,4	K562	blood:
2	chr5:118740750..118742654-chr5:118753714..118755578,2	K562	blood:
3	chr5:118322780..118324776-chr5:118741161..118743170,2	K562	blood:
4	chr5:118739304..118742654-chr5:118752620..118755578,3	K562	blood:
5	chr5:118741260..118743708-chr5:118743722..118746283,2	K562	blood:
6	chr5:118733874..118736884-chr5:118738369..118742486,6	K562	blood:
7	chr5:118737931..118739741-chr5:118741169..118742810,2	K562	blood:
8	chr5:118732923..118735569-chr5:118740820..118742719,2	MCF-7	breast:
9	chr5:118653698..118656390-chr5:118740909..118743289,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000169570	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1105771	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1112247	0.83[CEU][hapmap];0.86[JPT][hapmap]
rs11241502	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13155880	0.92[CEU][hapmap]
rs2259347	0.91[CHB][hapmap]
rs2451816	0.87[CHB][hapmap]
rs2457221	0.84[ASN][1000 genomes]
rs250298	0.85[JPT][hapmap]
rs250299	0.80[CEU][hapmap];0.82[JPT][hapmap]
rs2546210	0.91[CHB][hapmap]
rs25640	0.91[CHB][hapmap]
rs257970	0.91[CHB][hapmap]
rs257972	0.86[CHB][hapmap]
rs257973	0.91[CHB][hapmap]
rs257974	0.86[CHB][hapmap]
rs26180	0.91[CHB][hapmap]
rs2945327	0.82[CHB][hapmap]
rs32653	0.92[CEU][hapmap]
rs32658	0.92[CEU][hapmap]
rs32659	0.87[CHB][hapmap]
rs32662	0.90[CHB][hapmap]
rs32665	0.91[CHB][hapmap]
rs3813308	0.81[JPT][hapmap]
rs408095	0.81[JPT][hapmap]
rs455949	0.86[CHB][hapmap]
rs461108	0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs463098	0.91[CHB][hapmap]
rs465091	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4895191	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4895371	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6875595	0.95[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7720373	0.94[ASN][1000 genomes]
rs7720678	0.95[ASN][1000 genomes]
rs7721602	0.91[CHB][hapmap];0.86[JPT][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4895372	HSD17B4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118707600-118754600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:118723000-118747600	Weak transcription	Pancreas	Pancrea
3	chr5:118729600-118747400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr5:118731800-118746600	Weak transcription	Primary T cells from cord blood	blood
5	chr5:118732200-118745000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:118734000-118747400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:118735000-118747000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:118735800-118745200	Weak transcription	Fetal Thymus	thymus
9	chr5:118735800-118746200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:118736400-118746600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:118736800-118745000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr5:118736800-118747400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:118738600-118745200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr5:118739000-118746200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:118739400-118742800	Enhancers	Primary B cells from cord blood	blood
16	chr5:118739600-118746800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:118739600-118747000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:118739800-118742800	Enhancers	Primary B cells from peripheral blood	blood
19	chr5:118739800-118747000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr5:118741200-118742600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:118741200-118746600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr5:118741400-118741800	Enhancers	GM12878-XiMat	blood
23	chr5:118741400-118743400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:118741400-118743600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:118741400-118746400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr5:118741400-118747000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:118741400-118747400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:118741600-118746800	Weak transcription	K562	blood
29	chr5:118741600-118747000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:118741600-118747400	Weak transcription	Primary monocytes fromperipheralblood	blood

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