Variant report

Variant	rs7218204
Chromosome Location	chr17:15416808-15416809
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15390302..15392529-chr17:15414409..15416892,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11078306	0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11655100	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11869273	0.89[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12325899	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12709321	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12947500	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1548681	0.88[CHB][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16951580	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2323736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2906970	0.90[MKK][hapmap]
rs2938175	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4791624	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7209897	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7215138	1.00[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7215630	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7219580	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7219850	0.89[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8071399	0.84[ASN][1000 genomes]
rs880533	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9674557	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9899976	0.85[ASN][1000 genomes]
rs9901555	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9904490	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9904986	0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9908576	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9915127	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv949172	chr17:15206970-15416808	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv1058286	chr17:15315763-15561130	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv543213	chr17:15315763-15561130	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7218204	ADORA2B	cis	lymphoblastoid	seeQTL
rs7218204	SNORD49B	cis	cerebellum	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15383200-15419600	Weak transcription	Thymus	Thymus
2	chr17:15383400-15455000	Weak transcription	Gastric	stomach
3	chr17:15385600-15418000	Weak transcription	Pancreas	Pancrea
4	chr17:15387200-15417000	Weak transcription	Small Intestine	intestine
5	chr17:15393400-15451200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr17:15394600-15417000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr17:15394800-15450800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr17:15396000-15417200	Weak transcription	Fetal Brain Male	brain
9	chr17:15396800-15420400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr17:15401200-15420400	Weak transcription	Psoas Muscle	Psoas
11	chr17:15405400-15418200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr17:15405400-15419000	Weak transcription	Liver	Liver
13	chr17:15406200-15420600	Weak transcription	Colonic Mucosa	Colon
14	chr17:15406600-15417000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr17:15406600-15417000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr17:15406600-15417000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr17:15406600-15417200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr17:15406600-15419000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr17:15406600-15419800	Weak transcription	NHEK	skin
20	chr17:15406600-15422800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr17:15406600-15428800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr17:15406800-15417000	Weak transcription	Esophagus	oesophagus
23	chr17:15406800-15418200	Weak transcription	Placenta	Placenta
24	chr17:15406800-15418600	Weak transcription	Spleen	Spleen
25	chr17:15406800-15419000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr17:15406800-15419200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr17:15406800-15419400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr17:15406800-15419400	Weak transcription	Fetal Kidney	kidney
29	chr17:15406800-15419600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr17:15406800-15420200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr17:15406800-15421800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr17:15406800-15422000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr17:15406800-15450600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr17:15407000-15417000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr17:15407000-15419000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr17:15407000-15422400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr17:15410200-15426200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr17:15410600-15417000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr17:15410800-15417200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr17:15410800-15417400	Weak transcription	Primary T cells from cord blood	blood
41	chr17:15410800-15418200	Weak transcription	Fetal Brain Female	brain
42	chr17:15410800-15418600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr17:15410800-15418600	Weak transcription	Brain Germinal Matrix	brain
44	chr17:15410800-15429000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr17:15411600-15417000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr17:15411800-15417000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr17:15412000-15417000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr17:15412000-15417200	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr17:15412000-15417200	Weak transcription	Aorta	Aorta
50	chr17:15412000-15418000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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