Variant report

Variant	rs230941
Chromosome Location	chr17:15135130-15135131
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15130830..15132706-chr17:15134137..15135681,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs13422	0.93[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs179520	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1860295	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs192046	0.97[EUR][1000 genomes]
rs230913	0.83[AMR][1000 genomes]
rs230914	0.82[EUR][1000 genomes]
rs230931	0.95[EUR][1000 genomes]
rs230934	0.97[EUR][1000 genomes]
rs230935	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs230936	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs230937	0.97[EUR][1000 genomes]
rs230939	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs230942	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs230943	0.95[CEU][hapmap];0.97[EUR][1000 genomes]
rs230944	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs230946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs230947	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs230949	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs230950	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]
rs231020	0.80[CHB][hapmap];0.93[CHD][hapmap]
rs231025	0.80[CHB][hapmap]
rs231028	0.85[CHB][hapmap]
rs231030	0.85[CHB][hapmap];0.95[CHD][hapmap]
rs2531951	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs230941	ADORA2B	cis	parietal	SCAN
rs230941	C17orf76	cis	cerebellum	SCAN

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15124000-15136000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr17:15130600-15135600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr17:15130600-15135600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr17:15131200-15141600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr17:15131600-15135800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr17:15131600-15135800	Strong transcription	Duodenum Smooth Muscle	Duodenum
7	chr17:15131600-15136000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr17:15131600-15136000	Strong transcription	Adipose Nuclei	Adipose
9	chr17:15131600-15138000	Genic enhancers	Right Ventricle	heart
10	chr17:15131600-15139600	Weak transcription	Liver	Liver
11	chr17:15131600-15145600	Strong transcription	Fetal Muscle Trunk	muscle
12	chr17:15131800-15135600	Weak transcription	Colonic Mucosa	Colon
13	chr17:15131800-15135600	Strong transcription	NHDF-Ad	bronchial
14	chr17:15131800-15135800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr17:15131800-15136000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:15131800-15139800	Strong transcription	Fetal Stomach	stomach
17	chr17:15132000-15135200	Strong transcription	Colon Smooth Muscle	Colon
18	chr17:15132200-15135600	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr17:15132200-15136000	Strong transcription	Fetal Muscle Leg	muscle
20	chr17:15132200-15136600	Strong transcription	Lung	lung
21	chr17:15132200-15136600	Weak transcription	Small Intestine	intestine
22	chr17:15132200-15136800	Strong transcription	Fetal Intestine Large	intestine
23	chr17:15132200-15139400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr17:15132200-15144400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr17:15132200-15158800	Weak transcription	Hela-S3	cervix
26	chr17:15132400-15135800	Strong transcription	Ovary	ovary
27	chr17:15132400-15136000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr17:15132400-15136400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr17:15132400-15136400	Strong transcription	NHLF	lung
30	chr17:15132400-15137200	Strong transcription	HUVEC	blood vessel
31	chr17:15132400-15143200	Strong transcription	HSMMtube	muscle
32	chr17:15132600-15135600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr17:15132600-15135600	Strong transcription	Gastric	stomach
34	chr17:15132600-15135600	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr17:15132600-15135600	Strong transcription	Osteobl	bone
36	chr17:15132600-15135800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr17:15132600-15136000	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr17:15132600-15138400	Strong transcription	Aorta	Aorta
39	chr17:15132600-15140000	Genic enhancers	Left Ventricle	heart
40	chr17:15132600-15142800	Weak transcription	Esophagus	oesophagus
41	chr17:15132800-15135400	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr17:15132800-15135600	Strong transcription	Psoas Muscle	Psoas
43	chr17:15132800-15135800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr17:15132800-15135800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr17:15132800-15136000	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr17:15132800-15136000	Strong transcription	Placenta	Placenta
47	chr17:15132800-15136400	Strong transcription	A549	lung
48	chr17:15132800-15136800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr17:15132800-15139600	Strong transcription	Fetal Lung	lung
50	chr17:15133200-15135800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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