Variant report

Variant	rs12150285
Chromosome Location	chr17:16148926-16148927
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16145216..16149469-chr17:16187670..16191741,4	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 10 )

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

rs_ID	r²[population]
rs11652044	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11653500	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12945959	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12946619	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12948244	0.81[EUR][1000 genomes]
rs178785	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs178787	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs178788	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2014604	0.81[EUR][1000 genomes]
rs28516015	0.80[EUR][1000 genomes]
rs3112511	0.81[EUR][1000 genomes]
rs3112513	0.81[EUR][1000 genomes]
rs34331598	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35565381	0.85[EUR][1000 genomes]
rs4470185	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4792730	0.81[EUR][1000 genomes]
rs56269147	0.85[EUR][1000 genomes]
rs62072527	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7219687	0.81[EUR][1000 genomes]
rs7223428	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7225920	0.80[EUR][1000 genomes]
rs8073259	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs12150285	ADORA2B	cis	Thyroid	GTEx
rs12150285	ADORA2B	cis	Nerve Tibial	GTEx
rs12150285	ADORA2B	cis	Esophagus Muscularis	GTEx
rs12150285	NCOR1	Cis_1M	lymphoblastoid	RTeQTL
rs12150285	CENPV	cis	Artery Tibial	GTEx
rs12150285	ADORA2B	cis	Artery Tibial	GTEx
rs12150285	ADORA2B	cis	Muscle Skeletal	GTEx
rs12150285	ZSWIM7	Cis_1M	lymphoblastoid	RTeQTL
rs12150285	ZSWIM7	cis	Muscle Skeletal	GTEx
rs12150285	TTC19	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16121000-16163200	Weak transcription	Spleen	Spleen
2	chr17:16121200-16157000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr17:16121200-16158800	Weak transcription	Left Ventricle	heart
4	chr17:16121200-16159800	Weak transcription	Lung	lung
5	chr17:16121200-16163000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr17:16121400-16158600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr17:16121400-16158800	Weak transcription	Fetal Muscle Leg	muscle
8	chr17:16121400-16159000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr17:16121400-16170600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr17:16121600-16150200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr17:16121600-16151800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr17:16121600-16158400	Weak transcription	Brain Hippocampus Middle	brain
13	chr17:16121600-16158600	Weak transcription	Brain Germinal Matrix	brain
14	chr17:16121800-16150200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr17:16121800-16153600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr17:16121800-16158200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr17:16121800-16158400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr17:16121800-16163200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr17:16121800-16163200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr17:16122000-16163400	Weak transcription	Fetal Brain Female	brain
21	chr17:16122200-16150200	Weak transcription	Liver	Liver
22	chr17:16123000-16154200	Weak transcription	Ovary	ovary
23	chr17:16124200-16158200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:16126200-16163200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr17:16126200-16163400	Weak transcription	Primary B cells from cord blood	blood
26	chr17:16126400-16158800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr17:16126600-16153800	Weak transcription	A549	lung
28	chr17:16127600-16158600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr17:16132200-16163200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr17:16132400-16163600	Weak transcription	HSMM	muscle
31	chr17:16133200-16153800	Weak transcription	Hela-S3	cervix
32	chr17:16133800-16163000	Weak transcription	Fetal Thymus	thymus
33	chr17:16133800-16176200	Weak transcription	NHEK	skin
34	chr17:16134000-16170600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr17:16134200-16162400	Weak transcription	Dnd41	blood
36	chr17:16134400-16163200	Weak transcription	Thymus	Thymus
37	chr17:16134800-16163200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr17:16135400-16150200	Weak transcription	Colonic Mucosa	Colon
39	chr17:16135600-16158600	Weak transcription	Adipose Nuclei	Adipose
40	chr17:16138600-16163400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr17:16138600-16170200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr17:16139000-16163400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr17:16139400-16163000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr17:16139600-16163400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr17:16139800-16158200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr17:16140000-16170200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr17:16140400-16156000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr17:16141400-16159000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr17:16143800-16158200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr17:16143800-16160600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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