Variant report

Variant	rs8069732
Chromosome Location	chr17:45352935-45352936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000259207	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11649785	0.82[AFR][1000 genomes]
rs11650022	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11653733	1.00[CHB][hapmap]
rs17218711	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17605038	1.00[CHB][hapmap]
rs55845779	0.83[AFR][1000 genomes]
rs5918	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62074395	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62074396	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62074428	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7214096	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217214	0.91[LWK][hapmap];0.88[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7223956	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8064871	0.88[AFR][1000 genomes]
rs8077375	0.85[CEU][hapmap];0.82[TSI][hapmap]
rs8078614	0.93[YRI][hapmap]

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:9)

SNP	Gene	Cis/trans	Tissue	Source
rs8069732	HSD17B1	cis	cerebellum	SCAN
rs8069732	C17orf105	cis	cerebellum	SCAN
rs8069732	ARL4D	cis	parietal	SCAN
rs8069732	TBKBP1	cis	multi-tissue	Pritchard
rs8069732	KRT31	cis	parietal	SCAN
rs8069732	C17orf57	cis	cerebellum	SCAN
rs8069732	EFTUD2	cis	cerebellum	SCAN
rs8069732	MAP3K14	cis	parietal	SCAN
rs8069732	CHAD	trans	parietal	SCAN

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45346200-45353200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr17:45346800-45353200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:45350600-45353400	Enhancers	Fetal Heart	heart
4	chr17:45350600-45355000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr17:45350600-45355000	Enhancers	Aorta	Aorta
6	chr17:45350600-45359400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr17:45351200-45353400	Enhancers	Rectal Smooth Muscle	rectum
8	chr17:45351200-45357800	Enhancers	Ovary	ovary
9	chr17:45351600-45354200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr17:45351600-45354600	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr17:45351600-45354800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr17:45351600-45356000	Enhancers	NHDF-Ad	bronchial
13	chr17:45351600-45357600	Enhancers	Fetal Stomach	stomach
14	chr17:45351600-45359000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr17:45351800-45353200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr17:45351800-45353400	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr17:45351800-45353600	Weak transcription	Gastric	stomach
18	chr17:45351800-45354600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr17:45351800-45355000	Enhancers	Right Atrium	heart
20	chr17:45351800-45356000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:45351800-45356000	Enhancers	Adipose Nuclei	Adipose
22	chr17:45351800-45358200	Enhancers	Lung	lung
23	chr17:45351800-45359200	Enhancers	Primary B cells from peripheral blood	blood
24	chr17:45352000-45354200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr17:45352000-45354600	Enhancers	HMEC	breast
26	chr17:45352000-45358800	Enhancers	NHLF	lung
27	chr17:45352200-45353000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr17:45352200-45354200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr17:45352200-45354400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr17:45352200-45354600	Enhancers	H9 Cell Line	embryonic stem cell
31	chr17:45352200-45354600	Enhancers	NH-A	brain
32	chr17:45352200-45355000	Enhancers	Fetal Intestine Large	intestine
33	chr17:45352200-45355200	Enhancers	Colonic Mucosa	Colon
34	chr17:45352200-45355200	Enhancers	Placenta	Placenta
35	chr17:45352200-45356400	Enhancers	Fetal Muscle Leg	muscle
36	chr17:45352200-45358400	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr17:45352400-45353400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr17:45352400-45353600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr17:45352400-45354200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr17:45352400-45354400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:45352400-45354400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr17:45352400-45354600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr17:45352400-45354600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr17:45352400-45354600	Enhancers	Brain Substantia Nigra	brain
45	chr17:45352400-45354600	Enhancers	Fetal Kidney	kidney
46	chr17:45352400-45354800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr17:45352400-45354800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr17:45352400-45354800	Enhancers	Right Ventricle	heart
49	chr17:45352400-45355000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr17:45352400-45355000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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