Variant report

Variant	rs230915
Chromosome Location	chr17:15148256-15148257
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs230911	0.81[CHB][hapmap]
rs230916	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230917	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs230938	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs231024	0.88[CHD][hapmap];0.83[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs230915	ADORA2B	cis	parietal	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15132200-15158800	Weak transcription	Hela-S3	cervix
2	chr17:15134400-15151000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr17:15135800-15151200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr17:15135800-15160200	Weak transcription	Pancreas	Pancrea
5	chr17:15137000-15151200	Weak transcription	Fetal Intestine Small	intestine
6	chr17:15137200-15158000	Weak transcription	Stomach Mucosa	stomach
7	chr17:15139000-15152800	Weak transcription	Colonic Mucosa	Colon
8	chr17:15139800-15148400	Weak transcription	Right Atrium	heart
9	chr17:15139800-15151200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr17:15139800-15160200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr17:15140200-15151000	Weak transcription	HMEC	breast
12	chr17:15142600-15154000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr17:15142600-15159000	Weak transcription	Fetal Kidney	kidney
14	chr17:15142600-15159000	Weak transcription	NH-A	brain
15	chr17:15142800-15159200	Weak transcription	Fetal Brain Male	brain
16	chr17:15143000-15148400	Weak transcription	Spleen	Spleen
17	chr17:15143000-15150800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr17:15143000-15150800	Weak transcription	NHLF	lung
19	chr17:15143000-15151000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr17:15143000-15151200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr17:15143000-15151200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr17:15143000-15151200	Weak transcription	Osteobl	bone
23	chr17:15143000-15151400	Weak transcription	HUVEC	blood vessel
24	chr17:15143000-15152400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr17:15143000-15152400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr17:15143000-15154000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr17:15143000-15156800	Weak transcription	Gastric	stomach
28	chr17:15143200-15148400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr17:15143200-15151000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr17:15143200-15151000	Weak transcription	Fetal Intestine Large	intestine
31	chr17:15143600-15148400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr17:15144000-15150600	Weak transcription	Placenta	Placenta
33	chr17:15144200-15148400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr17:15144200-15148400	Weak transcription	Left Ventricle	heart
35	chr17:15144200-15148400	Weak transcription	Psoas Muscle	Psoas
36	chr17:15144200-15148400	Weak transcription	HSMM	muscle
37	chr17:15144200-15152600	Weak transcription	Lung	lung
38	chr17:15144400-15148400	Weak transcription	Aorta	Aorta
39	chr17:15144400-15148400	Weak transcription	Right Ventricle	heart
40	chr17:15144400-15150800	Weak transcription	HSMMtube	muscle
41	chr17:15144600-15148600	Weak transcription	K562	blood
42	chr17:15144800-15148400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr17:15144800-15148400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr17:15146200-15148400	Strong transcription	NHDF-Ad	bronchial
45	chr17:15146800-15160400	Strong transcription	A549	lung
46	chr17:15147200-15151200	Enhancers	Fetal Heart	heart
47	chr17:15147400-15150200	Strong transcription	Fetal Lung	lung
48	chr17:15147400-15150400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr17:15147400-15150600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr17:15147400-15153400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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