Variant report

Variant	rs230950
Chromosome Location	chr17:15143011-15143012
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr17:15142892-15143016	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15141620..15144073-chr17:15150924..15153203,2	K562	blood:
2	chr17:15142573..15145462-chr17:15150924..15153034,2	K562	blood:

Variant related genes	Relation type
ENSG00000238806	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs13422	0.86[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs179520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1860295	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs192046	0.94[EUR][1000 genomes]
rs230913	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs230914	0.86[EUR][1000 genomes]
rs230931	0.92[EUR][1000 genomes]
rs230934	0.94[EUR][1000 genomes]
rs230935	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs230936	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs230937	0.94[EUR][1000 genomes]
rs230939	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs230941	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs230942	0.93[EUR][1000 genomes]
rs230943	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs230944	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs230946	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs230947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs230949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs231020	0.80[CHB][hapmap];0.95[CHD][hapmap];0.81[MKK][hapmap]
rs231023	0.83[MKK][hapmap]
rs231025	0.80[CHB][hapmap]
rs231028	0.85[CHB][hapmap]
rs231030	0.85[CHB][hapmap];0.98[CHD][hapmap];0.97[LWK][hapmap];0.98[MKK][hapmap];0.80[ASN][1000 genomes]
rs2531951	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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
rs230950	ADORA2B	cis	parietal	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15131600-15145600	Strong transcription	Fetal Muscle Trunk	muscle
2	chr17:15132200-15144400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr17:15132200-15158800	Weak transcription	Hela-S3	cervix
4	chr17:15132400-15143200	Strong transcription	HSMMtube	muscle
5	chr17:15134400-15151000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr17:15134600-15143200	Strong transcription	HSMM	muscle
7	chr17:15135200-15144800	Genic enhancers	Colon Smooth Muscle	Colon
8	chr17:15135600-15143400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr17:15135800-15151200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr17:15135800-15160200	Weak transcription	Pancreas	Pancrea
11	chr17:15137000-15151200	Weak transcription	Fetal Intestine Small	intestine
12	chr17:15137200-15158000	Weak transcription	Stomach Mucosa	stomach
13	chr17:15137400-15143400	Strong transcription	Fetal Muscle Leg	muscle
14	chr17:15138000-15144200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr17:15138600-15144200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr17:15139000-15143400	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr17:15139000-15152800	Weak transcription	Colonic Mucosa	Colon
18	chr17:15139400-15143200	Genic enhancers	Adipose Nuclei	Adipose
19	chr17:15139400-15143600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr17:15139800-15148400	Weak transcription	Right Atrium	heart
21	chr17:15139800-15151200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr17:15139800-15160200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr17:15140000-15145800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:15140200-15147800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr17:15140200-15151000	Weak transcription	HMEC	breast
26	chr17:15140400-15143200	Strong transcription	Fetal Lung	lung
27	chr17:15140800-15144000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:15141000-15143200	Strong transcription	Fetal Intestine Large	intestine
29	chr17:15141200-15143200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr17:15141200-15143200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr17:15141400-15143200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr17:15141400-15144200	Strong transcription	Fetal Stomach	stomach
33	chr17:15141600-15144200	Genic enhancers	Left Ventricle	heart
34	chr17:15141800-15143200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr17:15142000-15146200	Strong transcription	A549	lung
36	chr17:15142400-15143800	Strong transcription	NHDF-Ad	bronchial
37	chr17:15142400-15145000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr17:15142600-15144000	Weak transcription	Brain Angular Gyrus	brain
39	chr17:15142600-15144600	Enhancers	Fetal Heart	heart
40	chr17:15142600-15144600	Enhancers	K562	blood
41	chr17:15142600-15145400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr17:15142600-15154000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr17:15142600-15159000	Weak transcription	Fetal Kidney	kidney
44	chr17:15142600-15159000	Weak transcription	NH-A	brain
45	chr17:15142800-15143800	Weak transcription	Brain Hippocampus Middle	brain
46	chr17:15142800-15159200	Weak transcription	Fetal Brain Male	brain
47	chr17:15143000-15143200	Weak transcription	Esophagus	oesophagus
48	chr17:15143000-15143400	Weak transcription	Ovary	ovary
49	chr17:15143000-15143800	Weak transcription	Brain Anterior Caudate	brain
50	chr17:15143000-15143800	Weak transcription	Brain Cingulate Gyrus	brain

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