Variant report

Variant	rs8073259
Chromosome Location	chr17:16164557-16164558
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16158983..16161004-chr17:16162947..16164808,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11652044	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11653500	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11654658	0.80[GIH][hapmap]
rs11655325	0.82[EUR][1000 genomes]
rs11656811	0.80[GIH][hapmap]
rs11868284	0.80[GIH][hapmap]
rs12150285	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12938394	0.83[EUR][1000 genomes]
rs12945959	0.89[EUR][1000 genomes]
rs12946619	1.00[ASW][hapmap];0.88[CEU][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];0.98[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12948244	0.85[EUR][1000 genomes]
rs178785	0.86[EUR][1000 genomes]
rs178787	0.84[CEU][hapmap];0.93[GIH][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs178788	0.81[EUR][1000 genomes]
rs2014604	0.90[GIH][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs2078050	0.82[ASW][hapmap];0.94[LWK][hapmap];0.82[MKK][hapmap];0.90[YRI][hapmap]
rs2109262	0.80[GIH][hapmap]
rs2324142	0.82[ASW][hapmap];0.91[LWK][hapmap];0.85[MKK][hapmap];0.90[YRI][hapmap]
rs28516015	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3095171	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3112511	0.88[ASW][hapmap];0.90[GIH][hapmap];0.94[LWK][hapmap];0.88[MKK][hapmap];0.89[TSI][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3112513	0.88[ASW][hapmap];0.90[GIH][hapmap];0.91[LWK][hapmap];0.88[MKK][hapmap];0.89[TSI][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3112521	0.83[GIH][hapmap]
rs3112524	0.83[GIH][hapmap]
rs3112526	0.83[GIH][hapmap]
rs3112527	0.83[GIH][hapmap]
rs34331598	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35565381	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs3785621	0.88[GIH][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs3785623	0.88[GIH][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs3785626	0.80[GIH][hapmap]
rs3785628	0.82[ASW][hapmap];0.94[LWK][hapmap];0.85[MKK][hapmap];0.90[YRI][hapmap]
rs4470185	0.92[CEU][hapmap];0.95[GIH][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4791665	0.90[GIH][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs4792728	0.80[GIH][hapmap]
rs4792730	0.83[EUR][1000 genomes]
rs4792731	0.80[GIH][hapmap]
rs56269147	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62072527	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7214695	0.90[YRI][hapmap]
rs7219687	0.90[GIH][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes]
rs7223428	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7225920	0.84[EUR][1000 genomes]
rs917609	0.83[GIH][hapmap]
rs9747114	0.82[EUR][1000 genomes]
rs9944524	0.80[GIH][hapmap]

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	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv907715	chr17:16019978-16206540	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
6	nsv907717	chr17:16076898-16239832	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
7	nsv528263	chr17:16097430-16196996	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
8	esv3326983	chr17:16138963-16210147	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	21 gene(s)	inside rSNPs	diseases
9	nsv907719	chr17:16161036-16185122	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs8073259	CENPV	cis	Artery Tibial	GTEx
rs8073259	ADORA2B	cis	Nerve Tibial	GTEx
rs8073259	ZSWIM7	Cis_1M	lymphoblastoid	RTeQTL
rs8073259	TTC19	cis	lymphoblastoid	seeQTL
rs8073259	ELAC2	cis	parietal	SCAN
rs8073259	ADORA2B	cis	Adipose Subcutaneous	GTEx
rs8073259	ADORA2B	cis	Thyroid	GTEx
rs8073259	PRPSAP2	cis	parietal	SCAN
rs8073259	ADORA2B	cis	Artery Tibial	GTEx
rs8073259	ZSWIM7	cis	Muscle Skeletal	GTEx
rs8073259	TRPV2	cis	parietal	SCAN
rs8073259	NCOR1	Cis_1M	lymphoblastoid	RTeQTL
rs8073259	TTC19	Cis_1M	lymphoblastoid	RTeQTL
rs8073259	TRPV2	cis	cerebellum	SCAN
rs8073259	CENPV	cis	parietal	SCAN
rs8073259	ADORA2B	cis	Muscle Skeletal	GTEx
rs8073259	ADORA2B	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16121400-16170600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr17:16133800-16176200	Weak transcription	NHEK	skin
3	chr17:16134000-16170600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr17:16138600-16170200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr17:16140000-16170200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr17:16147400-16167000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr17:16154400-16176600	Weak transcription	Hela-S3	cervix
8	chr17:16157400-16185200	Weak transcription	Gastric	stomach
9	chr17:16159200-16178400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr17:16159400-16165400	Weak transcription	NHDF-Ad	bronchial
11	chr17:16159400-16189200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr17:16159600-16166000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr17:16159600-16172800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:16159600-16188800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr17:16159600-16189000	Weak transcription	Brain Anterior Caudate	brain
16	chr17:16159800-16172800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr17:16160000-16183000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr17:16160200-16165400	Weak transcription	Fetal Heart	heart
19	chr17:16160400-16170600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr17:16160400-16188400	Weak transcription	Liver	Liver
21	chr17:16161200-16168200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr17:16161200-16168400	Weak transcription	Fetal Intestine Large	intestine
23	chr17:16163000-16164600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
24	chr17:16163200-16171200	Weak transcription	Fetal Lung	lung
25	chr17:16163400-16164600	ZNF genes & repeats	Fetal Intestine Small	intestine
26	chr17:16163400-16189200	Weak transcription	Left Ventricle	heart
27	chr17:16163600-16189200	Weak transcription	Pancreas	Pancrea
28	chr17:16163800-16165400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr17:16163800-16170600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr17:16163800-16171400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr17:16164000-16164600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr17:16164000-16165600	Weak transcription	Esophagus	oesophagus
33	chr17:16164000-16166600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr17:16164000-16166800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr17:16164000-16169000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr17:16164000-16169200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr17:16164000-16170000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr17:16164000-16170600	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr17:16164000-16170600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr17:16164000-16170600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr17:16164000-16170600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr17:16164000-16170800	Weak transcription	Fetal Thymus	thymus
43	chr17:16164000-16171400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr17:16164000-16176400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr17:16164000-16176400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr17:16164000-16180800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr17:16164000-16182400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr17:16164000-16182400	Weak transcription	Fetal Muscle Leg	muscle
49	chr17:16164000-16185000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr17:16164000-16189000	Weak transcription	Fetal Brain Female	brain

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