Variant report

Variant	rs4365325
Chromosome Location	chr17:15464603-15464604
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15457303..15459524-chr17:15462785..15464978,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11653403	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11870330	0.81[ASN][1000 genomes]
rs1465251	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28411195	0.82[EUR][1000 genomes]
rs3865257	0.86[AMR][1000 genomes]
rs56407841	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62072578	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8076852	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9903674	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9906036	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9911005	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9911822	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1058286	chr17:15315763-15561130	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv543213	chr17:15315763-15561130	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv960418	chr17:15441505-15470653	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv457695	chr17:15447364-15611495	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv574462	chr17:15447364-15611495	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4365325	AC005517.3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15416200-15466000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr17:15417600-15466400	Weak transcription	Ovary	ovary
3	chr17:15421800-15465600	Weak transcription	Hela-S3	cervix
4	chr17:15422800-15465800	Weak transcription	Fetal Intestine Small	intestine
5	chr17:15429800-15466000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr17:15429800-15466400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr17:15431000-15465400	Weak transcription	K562	blood
8	chr17:15439000-15466000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr17:15439600-15466000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr17:15439800-15466400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr17:15440200-15466400	Weak transcription	Left Ventricle	heart
12	chr17:15440800-15466000	Weak transcription	NHEK	skin
13	chr17:15441000-15466000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr17:15442600-15465400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr17:15442600-15466000	Weak transcription	A549	lung
16	chr17:15442600-15466400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr17:15442800-15465800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr17:15442800-15466400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr17:15442800-15466400	Weak transcription	Lung	lung
20	chr17:15447200-15465200	Weak transcription	HUVEC	blood vessel
21	chr17:15449000-15465200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr17:15449000-15466000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr17:15449000-15466000	Weak transcription	Brain Anterior Caudate	brain
24	chr17:15449000-15466000	Weak transcription	HSMMtube	muscle
25	chr17:15449200-15465400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr17:15449200-15466000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr17:15449200-15466000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr17:15449200-15466000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr17:15449200-15466000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr17:15449200-15466000	Weak transcription	NH-A	brain
31	chr17:15449600-15465200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr17:15449600-15465200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr17:15449600-15465800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr17:15449600-15466000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:15449600-15466000	Weak transcription	Osteobl	bone
36	chr17:15449800-15465200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr17:15449800-15466000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr17:15449800-15466200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr17:15451000-15465400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr17:15451200-15465600	Weak transcription	Liver	Liver
41	chr17:15453000-15466200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr17:15462000-15465400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr17:15462200-15466000	Weak transcription	Brain Germinal Matrix	brain
44	chr17:15462400-15466400	Weak transcription	Esophagus	oesophagus
45	chr17:15463000-15465000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr17:15463000-15465800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr17:15463000-15466000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr17:15463000-15466600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr17:15463200-15466000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr17:15463400-15466000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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