Variant report

Variant	rs231020
Chromosome Location	chr17:15162389-15162390
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	chr17:15160328..15163541-chr17:15164433..15167437,4	K562	blood:

Variant related genes	Relation type
ENSG00000109099	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs13422	0.88[CHD][hapmap]
rs179520	0.80[CHB][hapmap];0.95[CHD][hapmap]
rs230913	0.83[ASN][1000 genomes]
rs230941	0.80[CHB][hapmap];0.93[CHD][hapmap]
rs230947	0.95[CHD][hapmap]
rs230950	0.80[CHB][hapmap];0.95[CHD][hapmap];0.81[MKK][hapmap]
rs231015	0.81[CEU][hapmap]
rs231017	0.83[EUR][1000 genomes]
rs231018	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs231023	0.96[CEU][hapmap];0.95[GIH][hapmap];0.88[MEX][hapmap];0.88[MKK][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs231024	0.82[CEU][hapmap]
rs231025	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs231027	0.94[EUR][1000 genomes]
rs231028	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs231029	0.91[CEU][hapmap];0.94[EUR][1000 genomes]
rs231030	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55568	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs66507245	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066329	chr17:14983674-15294071	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543212	chr17:14983674-15294071	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv530760	chr17:15152791-15162532	Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs231020	ADORA2B	cis	parietal	SCAN

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15157600-15163200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr17:15159000-15162600	Genic enhancers	Fetal Muscle Trunk	muscle
3	chr17:15159000-15162800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr17:15159200-15162800	Genic enhancers	HSMMtube	muscle
5	chr17:15159200-15163200	Genic enhancers	Fetal Muscle Leg	muscle
6	chr17:15159600-15163000	Genic enhancers	Placenta	Placenta
7	chr17:15159800-15162600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
8	chr17:15160000-15162800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
9	chr17:15160000-15163000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr17:15160000-15163200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:15160200-15162800	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
12	chr17:15160200-15163000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr17:15160200-15163200	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
14	chr17:15160200-15163200	Genic enhancers	HSMM	muscle
15	chr17:15160200-15163600	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
16	chr17:15160200-15165800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
17	chr17:15160400-15162800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr17:15160400-15162800	Genic enhancers	Fetal Intestine Large	intestine
19	chr17:15160400-15162800	Genic enhancers	Fetal Intestine Small	intestine
20	chr17:15160400-15163000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr17:15160400-15163200	Genic enhancers	Fetal Stomach	stomach
22	chr17:15160400-15163600	Weak transcription	Fetal Kidney	kidney
23	chr17:15160800-15162800	Genic enhancers	Fetal Lung	lung
24	chr17:15160800-15163000	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
25	chr17:15160800-15163200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr17:15160800-15163400	Weak transcription	Fetal Brain Female	brain
27	chr17:15160800-15163400	Genic enhancers	Fetal Heart	heart
28	chr17:15160800-15163800	Weak transcription	Pancreas	Pancrea
29	chr17:15161000-15162400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr17:15161000-15162600	Genic enhancers	Lung	lung
31	chr17:15161000-15162600	Genic enhancers	Ovary	ovary
32	chr17:15161000-15163600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr17:15161000-15163800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr17:15161200-15162400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr17:15161200-15162400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr17:15161200-15162400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
37	chr17:15161200-15162600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr17:15161200-15163400	Weak transcription	HMEC	breast
39	chr17:15161200-15163600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr17:15161200-15163600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr17:15161200-15163600	Weak transcription	Liver	Liver
42	chr17:15161400-15162400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr17:15161400-15162400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr17:15161400-15162400	Genic enhancers	Rectal Mucosa Donor 29	rectum
45	chr17:15161400-15162400	Weak transcription	K562	blood
46	chr17:15161400-15162600	Strong transcription	Gastric	stomach
47	chr17:15161400-15162800	Strong transcription	A549	lung
48	chr17:15161400-15163000	Genic enhancers	Brain Anterior Caudate	brain
49	chr17:15161400-15163200	Genic enhancers	Muscle Satellite Cultured Cells	--
50	chr17:15161400-15163200	Weak transcription	NH-A	brain

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