Variant report

Variant	rs7217214
Chromosome Location	chr17:45355227-45355228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45349283..45353321-chr17:45355036..45358362,4	K562	blood:
2	chr17:45264009..45265710-chr17:45352857..45355559,2	K562	blood:
3	chr17:45342339..45344820-chr17:45354708..45356639,2	K562	blood:
4	chr17:45352188..45358928-chr17:45361878..45368448,10	K562	blood:

Variant related genes	Relation type
ENSG00000259207	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10514928	0.91[JPT][hapmap]
rs11649785	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12452359	0.83[MEX][hapmap]
rs16941768	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1806687	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3744453	0.88[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3956021	0.91[JPT][hapmap]
rs55845779	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55846810	0.86[ASN][1000 genomes]
rs56187467	0.91[ASN][1000 genomes]
rs58847127	0.86[ASN][1000 genomes]
rs58875262	0.86[ASN][1000 genomes]
rs5918	1.00[LWK][hapmap];0.91[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs62074428	0.94[AFR][1000 genomes]
rs7214096	0.91[LWK][hapmap];0.86[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs73324412	0.81[ASN][1000 genomes]
rs8064871	0.83[AFR][1000 genomes]
rs8069732	0.91[LWK][hapmap];0.88[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs8078614	0.83[CEU][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs884696	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs951351	0.88[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs988684	0.88[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7217214	HSD17B1	cis	cerebellum	SCAN
rs7217214	EFTUD2	cis	cerebellum	SCAN
rs7217214	C17orf57	cis	cerebellum	SCAN
rs7217214	MAP3K14	cis	parietal	SCAN
rs7217214	GRN	cis	parietal	SCAN
rs7217214	KRT24	cis	cerebellum	SCAN
rs7217214	KRT31	cis	parietal	SCAN

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45350600-45359400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr17:45351200-45357800	Enhancers	Ovary	ovary
3	chr17:45351600-45356000	Enhancers	NHDF-Ad	bronchial
4	chr17:45351600-45357600	Enhancers	Fetal Stomach	stomach
5	chr17:45351600-45359000	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr17:45351800-45356000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr17:45351800-45356000	Enhancers	Adipose Nuclei	Adipose
8	chr17:45351800-45358200	Enhancers	Lung	lung
9	chr17:45351800-45359200	Enhancers	Primary B cells from peripheral blood	blood
10	chr17:45352000-45358800	Enhancers	NHLF	lung
11	chr17:45352200-45356400	Enhancers	Fetal Muscle Leg	muscle
12	chr17:45352200-45358400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr17:45352400-45356200	Enhancers	GM12878-XiMat	blood
14	chr17:45352400-45359200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr17:45352600-45355400	Enhancers	Liver	Liver
16	chr17:45352600-45356000	Enhancers	HSMM	muscle
17	chr17:45353000-45358200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr17:45353200-45356200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr17:45353200-45356600	Enhancers	Duodenum Mucosa	Duodenum
20	chr17:45353400-45355400	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr17:45353400-45355800	Enhancers	Fetal Lung	lung
22	chr17:45353400-45356000	Enhancers	Osteobl	bone
23	chr17:45353400-45356600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:45353400-45356600	Enhancers	Small Intestine	intestine
25	chr17:45353400-45358200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr17:45353600-45356000	Weak transcription	HSMMtube	muscle
27	chr17:45353600-45356400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr17:45353800-45357200	Enhancers	Colon Smooth Muscle	Colon
29	chr17:45354200-45355600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr17:45354200-45355800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr17:45354200-45356000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr17:45354200-45356200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr17:45354200-45358000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr17:45354400-45356000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr17:45354400-45356000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr17:45354400-45356600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr17:45354400-45357000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr17:45354600-45355600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr17:45354600-45355600	Weak transcription	NHEK	skin
40	chr17:45354600-45355800	Weak transcription	NH-A	brain
41	chr17:45354600-45356000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr17:45354600-45356000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr17:45354600-45356000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr17:45354600-45356000	Weak transcription	Brain Hippocampus Middle	brain
45	chr17:45354600-45356000	Weak transcription	Brain Substantia Nigra	brain
46	chr17:45354600-45356000	Weak transcription	HMEC	breast
47	chr17:45354600-45356000	Weak transcription	HUVEC	blood vessel
48	chr17:45354600-45356200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr17:45354600-45356200	Enhancers	Stomach Smooth Muscle	stomach
50	chr17:45354600-45356400	Enhancers	Duodenum Smooth Muscle	Duodenum

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