Variant report

Variant	rs465091
Chromosome Location	chr5:118753890-118753891
allele	A/G
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:118753692..118754236-chr6:26250478..26251239,2	NB4	blood:
2	chr5:118739304..118742654-chr5:118752620..118755578,3	K562	blood:
3	chr5:118746206..118749496-chr5:118750368..118755239,5	K562	blood:
4	chr5:118655474..118659015-chr5:118750147..118754859,4	K562	blood:
5	chr1:78148836..78149503-chr5:118753345..118754288,2	NB4	blood:
6	chr5:118747162..118749496-chr5:118752473..118755239,2	K562	blood:
7	chr5:118405948..118407537-chr5:118753041..118754895,2	MCF-7	breast:
8	chr5:118740750..118742654-chr5:118753714..118755578,2	K562	blood:
9	chr5:118753173..118755307-chr5:118768998..118771173,2	MCF-7	breast:
10	chr5:118408484..118411107-chr5:118751959..118754643,2	K562	blood:
11	chr5:118604990..118607098-chr5:118752315..118754043,2	K562	blood:
12	chr5:118735386..118738101-chr5:118752192..118755044,3	K562	blood:
13	chr5:118753614..118755538-chr5:118867454..118869085,2	K562	blood:
14	chr5:118629010..118630794-chr5:118752161..118754078,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000249494	Chromatin interaction
ENSG00000172869	Chromatin interaction
ENSG00000256316	Chromatin interaction
ENSG00000036549	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1112247	0.81[JPT][hapmap]
rs2259347	0.91[CHB][hapmap]
rs2451804	0.85[EUR][1000 genomes]
rs2451816	0.87[CHB][hapmap]
rs2451818	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2457221	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs250298	0.80[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]
rs257981	0.85[EUR][1000 genomes]
rs258049	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs258052	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs26180	0.91[CHB][hapmap]
rs2945327	0.82[CHB][hapmap]
rs32659	0.87[CHB][hapmap]
rs32662	0.90[CHB][hapmap]
rs32665	0.91[CHB][hapmap]
rs426899	0.85[CEU][hapmap]
rs455318	0.92[EUR][1000 genomes]
rs455949	0.86[CHB][hapmap]
rs461108	0.89[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs462756	0.93[EUR][1000 genomes]
rs463098	0.91[CHB][hapmap]
rs4895191	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4895371	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4895372	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6875595	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7720373	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7720678	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7721602	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.94[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
rs465091	HSD17B4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118707600-118754600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:118748000-118754000	Weak transcription	Esophagus	oesophagus
3	chr5:118748000-118754400	Weak transcription	Placenta	Placenta
4	chr5:118748000-118755400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:118748200-118755000	Weak transcription	Liver	Liver
6	chr5:118752600-118756800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr5:118752800-118754800	Enhancers	Stomach Mucosa	stomach
8	chr5:118753000-118754800	Enhancers	Hela-S3	cervix
9	chr5:118753200-118754000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr5:118753200-118754000	Enhancers	Fetal Thymus	thymus
11	chr5:118753200-118754800	Enhancers	Dnd41	blood
12	chr5:118753200-118756800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr5:118753200-118757200	Enhancers	Primary B cells from peripheral blood	blood
14	chr5:118753400-118754000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:118753400-118754200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:118753400-118754200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr5:118753400-118754200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:118753400-118754200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr5:118753400-118754200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr5:118753400-118754200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr5:118753400-118754400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:118753400-118754400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr5:118753400-118754600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr5:118753400-118754800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:118753400-118754800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr5:118753400-118754800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:118753400-118754800	Enhancers	Thymus	Thymus
28	chr5:118753400-118754800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr5:118753400-118756600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:118753400-118756800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:118753600-118754000	Enhancers	HMEC	breast
32	chr5:118753600-118754000	Flanking Active TSS	NH-A	brain
33	chr5:118753600-118754200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr5:118753600-118754200	Enhancers	Brain Angular Gyrus	brain
35	chr5:118753600-118754400	Enhancers	Primary T cells from cord blood	blood
36	chr5:118753600-118754400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:118753600-118754400	Flanking Active TSS	K562	blood
38	chr5:118753600-118754600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:118753600-118754800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:118753600-118754800	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr5:118753600-118754800	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr5:118753600-118754800	Bivalent Enhancer	NHDF-Ad	bronchial
43	chr5:118753600-118754800	Enhancers	Osteobl	bone
44	chr5:118753600-118755000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:118753800-118754000	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr5:118753800-118754000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:118753800-118754000	Enhancers	GM12878-XiMat	blood
48	chr5:118753800-118754200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr5:118753800-118754200	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr5:118753800-118754400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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