Variant report

Variant	rs178785
Chromosome Location	chr17:16136289-16136290
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:16133803..16136363-chr17:16137901..16140091,2	MCF-7	breast:
2	chr17:16118974..16121859-chr17:16134370..16136827,2	K562	blood:
3	chr17:16131263..16133081-chr17:16135992..16138257,2	K562	blood:

Variant related genes	Relation type
ENSG00000141027	Chromatin interaction
ENSG00000108474	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11652044	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11653500	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12150285	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12936233	0.81[EUR][1000 genomes]
rs12938394	0.81[EUR][1000 genomes]
rs12945855	0.81[EUR][1000 genomes]
rs12945959	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12946619	0.85[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12948244	0.83[EUR][1000 genomes]
rs178787	0.89[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs178788	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2014604	0.83[EUR][1000 genomes]
rs28516015	0.82[EUR][1000 genomes]
rs3095171	0.81[EUR][1000 genomes]
rs3112511	0.82[EUR][1000 genomes]
rs3112513	0.82[EUR][1000 genomes]
rs34331598	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35565381	0.87[EUR][1000 genomes]
rs3785623	0.81[EUR][1000 genomes]
rs4470185	0.82[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4791665	0.81[EUR][1000 genomes]
rs4792718	0.93[CHB][hapmap];1.00[YRI][hapmap]
rs4792730	0.82[EUR][1000 genomes]
rs56269147	0.87[EUR][1000 genomes]
rs62072527	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7219687	0.83[EUR][1000 genomes]
rs7223428	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7225920	0.82[EUR][1000 genomes]
rs8073259	0.86[EUR][1000 genomes]

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	nsv522169	chr17:15923709-16147821	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv907718	chr17:16080849-16143709	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	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

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs178785	ADORA2B	cis	Thyroid	GTEx
rs178785	ADORA2B	cis	lung	GTEx
rs178785	Hs.379903	cis	multi-tissue	Pritchard
rs178785	ADORA2B	cis	Artery Tibial	GTEx
rs178785	ZSWIM7	Cis_1M	lymphoblastoid	RTeQTL
rs178785	ADORA2B	cis	Muscle Skeletal	GTEx
rs178785	ADORA2B	cis	Esophagus Muscularis	GTEx
rs178785	CENPV	cis	Artery Tibial	GTEx
rs178785	ADORA2B	cis	Nerve Tibial	GTEx
rs178785	NCOR1	Cis_1M	lymphoblastoid	RTeQTL
rs178785	LOC125150	cis	uninvolved skin	skin_eQTL
rs178785	TTC19	Cis_1M	lymphoblastoid	RTeQTL
rs178785	ADORA2B	cis	Adipose Subcutaneous	GTEx
rs178785	ZSWIM7	cis	Muscle Skeletal	GTEx
rs178785	LOC125150	cis	lesional skin	skin_eQTL
rs178785	LOC125150	cis	normal skin	skin_eQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16121000-16163200	Weak transcription	Spleen	Spleen
2	chr17:16121200-16141400	Weak transcription	Brain Substantia Nigra	brain
3	chr17:16121200-16142800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr17:16121200-16157000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr17:16121200-16158800	Weak transcription	Left Ventricle	heart
6	chr17:16121200-16159800	Weak transcription	Lung	lung
7	chr17:16121200-16163000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr17:16121400-16137400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr17:16121400-16140200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr17:16121400-16140400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr17:16121400-16141400	Weak transcription	Colon Smooth Muscle	Colon
12	chr17:16121400-16158600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr17:16121400-16158800	Weak transcription	Fetal Muscle Leg	muscle
14	chr17:16121400-16159000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr17:16121400-16170600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr17:16121600-16137000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr17:16121600-16137600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr17:16121600-16139200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr17:16121600-16139400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr17:16121600-16143000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr17:16121600-16143000	Weak transcription	Fetal Lung	lung
22	chr17:16121600-16147000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr17:16121600-16150200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr17:16121600-16151800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr17:16121600-16158400	Weak transcription	Brain Hippocampus Middle	brain
26	chr17:16121600-16158600	Weak transcription	Brain Germinal Matrix	brain
27	chr17:16121800-16137000	Weak transcription	HMEC	breast
28	chr17:16121800-16139000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr17:16121800-16139200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr17:16121800-16146600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr17:16121800-16150200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr17:16121800-16153600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr17:16121800-16158200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr17:16121800-16158400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr17:16121800-16163200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr17:16121800-16163200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr17:16122000-16137200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr17:16122000-16163400	Weak transcription	Fetal Brain Female	brain
39	chr17:16122200-16146800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr17:16122200-16150200	Weak transcription	Liver	Liver
41	chr17:16122400-16139400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr17:16123000-16154200	Weak transcription	Ovary	ovary
43	chr17:16124200-16158200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr17:16126200-16163200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr17:16126200-16163400	Weak transcription	Primary B cells from cord blood	blood
46	chr17:16126400-16158800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr17:16126600-16138400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr17:16126600-16153800	Weak transcription	A549	lung
49	chr17:16127000-16140200	Weak transcription	Fetal Stomach	stomach
50	chr17:16127600-16158600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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