Variant report

Variant	rs8066295
Chromosome Location	chr17:45348203-45348204
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	chr17:45346995..45349121-chr17:45397201..45400062,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10514919	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11651904	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11656865	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11657517	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.88[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11657963	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11658221	0.91[ASW][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11868894	0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11870620	0.95[ASN][1000 genomes]
rs12940207	0.86[ASN][1000 genomes]
rs12941431	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941776	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941780	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941802	0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs16941908	0.80[CHB][hapmap];0.84[JPT][hapmap]
rs2292864	0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2292866	0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs35265764	0.85[ASN][1000 genomes]
rs3785872	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs3892085	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4642	0.81[TSI][hapmap]
rs61131650	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62074423	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7209700	0.80[EUR][1000 genomes]
rs7219925	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8074094	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[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]
rs8077753	0.87[EUR][1000 genomes]
rs8080254	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[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]
rs884696	0.92[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8066295	TBKBP1	cis	multi-tissue	Pritchard
rs8066295	HSD17B1	cis	cerebellum	SCAN
rs8066295	KRT31	cis	parietal	SCAN
rs8066295	EFTUD2	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45338000-45352200	Weak transcription	Fetal Muscle Leg	muscle
2	chr17:45341400-45348800	Enhancers	NHDF-Ad	bronchial
3	chr17:45342600-45348400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr17:45343600-45352600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr17:45343800-45351200	Weak transcription	Ovary	ovary
6	chr17:45343800-45351200	Weak transcription	Right Ventricle	heart
7	chr17:45343800-45352600	Weak transcription	Spleen	Spleen
8	chr17:45344000-45352600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr17:45344800-45348400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr17:45344800-45350600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr17:45344800-45351800	Weak transcription	Right Atrium	heart
12	chr17:45345000-45350600	Weak transcription	K562	blood
13	chr17:45345000-45351600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr17:45345000-45351800	Weak transcription	Left Ventricle	heart
15	chr17:45345200-45350800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr17:45345400-45351800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr17:45345800-45350800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr17:45345800-45352000	Weak transcription	NHLF	lung
19	chr17:45346000-45351000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr17:45346200-45348400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr17:45346200-45353200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr17:45346600-45352200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr17:45346800-45352600	Weak transcription	Fetal Intestine Small	intestine
24	chr17:45346800-45353200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr17:45347200-45348800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr17:45347400-45348400	Enhancers	Colon Smooth Muscle	Colon
27	chr17:45347600-45348400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:45347600-45348600	Enhancers	Osteobl	bone
29	chr17:45347800-45348400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr17:45347800-45349600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr17:45347800-45351200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr17:45348000-45350600	Weak transcription	Fetal Heart	heart
33	chr17:45348200-45349800	Enhancers	Primary B cells from peripheral blood	blood
34	chr17:45348200-45350600	Weak transcription	Aorta	Aorta

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