Variant report

Variant	rs4895371
Chromosome Location	chr5:118739934-118739935
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	chr5:118734827..118736756-chr5:118738369..118740930,2	K562	blood:
2	chr5:118738573..118740948-chr5:118745923..118747452,2	K562	blood:
3	chr5:118416688..118419081-chr5:118737050..118740009,2	K562	blood:
4	chr5:118739304..118742654-chr5:118752620..118755578,3	K562	blood:
5	chr5:118656628..118658967-chr5:118738022..118740798,2	K562	blood:
6	chr5:118738543..118740922-chr5:118742917..118745688,4	K562	blood:
7	chr5:118733874..118736884-chr5:118738369..118742486,6	K562	blood:
8	chr5:118735517..118740583-chr5:118741661..118745688,4	K562	blood:
9	chr5:118734864..118737274-chr5:118738803..118740813,2	MCF-7	breast:

No data

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1105771	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1112247	0.83[CEU][hapmap]
rs11241502	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13155880	0.92[CEU][hapmap]
rs2259347	0.83[CHB][hapmap]
rs2451816	0.83[CHB][hapmap]
rs2457221	0.84[ASN][1000 genomes]
rs250298	0.81[CEU][hapmap]
rs250299	0.81[CEU][hapmap]
rs2546210	0.83[CHB][hapmap]
rs25640	0.82[CHB][hapmap]
rs257970	0.83[CHB][hapmap]
rs257972	0.87[CHB][hapmap]
rs257973	0.82[CHB][hapmap]
rs257974	0.83[CHB][hapmap]
rs26180	0.87[CHB][hapmap]
rs32653	0.92[CEU][hapmap]
rs32658	0.91[CEU][hapmap]
rs32659	0.83[CHB][hapmap]
rs32662	0.82[CHB][hapmap]
rs32665	0.83[CHB][hapmap]
rs3813308	0.81[JPT][hapmap]
rs461108	0.87[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs463098	0.83[CHB][hapmap]
rs465091	0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4895191	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4895372	0.92[CEU][hapmap];0.91[JPT][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6875595	0.87[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7720373	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7720678	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7721602	0.91[CHB][hapmap];0.95[JPT][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[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
rs4895371	HSD17B4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 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	chr5:118725400-118741200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:118727000-118740800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:118729600-118747400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:118730200-118741000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:118731800-118746600	Weak transcription	Primary T cells from cord blood	blood
8	chr5:118732200-118745000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:118734000-118747400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:118734200-118741200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:118735000-118747000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:118735400-118740600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr5:118735800-118745200	Weak transcription	Fetal Thymus	thymus
14	chr5:118735800-118746200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:118736200-118740600	Weak transcription	Stomach Mucosa	stomach
16	chr5:118736200-118740800	Weak transcription	Fetal Heart	heart
17	chr5:118736400-118746600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:118736800-118745000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr5:118736800-118747400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:118738000-118741400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:118738600-118741000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:118738600-118745200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr5:118739000-118740800	Weak transcription	K562	blood
24	chr5:118739000-118741000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:118739000-118746200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:118739400-118740600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:118739400-118740800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr5:118739400-118741600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr5:118739400-118742800	Enhancers	Primary B cells from cord blood	blood
30	chr5:118739600-118740200	Enhancers	GM12878-XiMat	blood
31	chr5:118739600-118740200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr5:118739600-118746800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:118739600-118747000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:118739800-118740000	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr5:118739800-118740800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:118739800-118740800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:118739800-118742800	Enhancers	Primary B cells from peripheral blood	blood
38	chr5:118739800-118747000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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