Variant report

Variant	rs178809
Chromosome Location	chr17:16099773-16099774
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	chr17:16099413..16101155-chr17:16118369..16120104,2	K562	blood:

Variant related genes	Relation type
ENSG00000141027	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1029809	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs1065822	0.96[CEU][hapmap]
rs1075901	0.81[CEU][hapmap]
rs1079533	1.00[CEU][hapmap]
rs11078332	0.82[AMR][1000 genomes]
rs1125156	0.96[CEU][hapmap]
rs1126148	0.80[AMR][1000 genomes]
rs1160109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11650427	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs11650678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes]
rs11651290	1.00[CEU][hapmap]
rs11655773	0.84[AMR][1000 genomes]
rs11657160	0.83[CEU][hapmap]
rs11869450	0.82[CEU][hapmap]
rs11872032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs12150017	0.82[AMR][1000 genomes]
rs12936233	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs12945855	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs178657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs178658	0.80[EUR][1000 genomes]
rs178659	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs178662	0.84[AMR][1000 genomes]
rs178789	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs178791	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs178792	0.83[AMR][1000 genomes]
rs178793	0.82[AMR][1000 genomes]
rs178796	0.83[AMR][1000 genomes]
rs178797	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs178798	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs178799	1.00[CEU][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs178800	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs178801	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs178802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs178804	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs178805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs178808	0.80[EUR][1000 genomes]
rs178814	0.83[CEU][hapmap]
rs178815	0.85[CEU][hapmap]
rs178816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs178817	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs178820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs178822	0.85[CEU][hapmap]
rs178829	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs178830	0.86[EUR][1000 genomes]
rs178834	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs178837	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs178838	0.82[CEU][hapmap]
rs178839	0.83[CEU][hapmap]
rs1972503	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1989856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs2041460	0.96[CEU][hapmap]
rs2078050	0.85[CEU][hapmap]
rs21180	0.86[EUR][1000 genomes]
rs2157990	0.82[CEU][hapmap]
rs2157991	0.85[CEU][hapmap]
rs2157992	1.00[CEU][hapmap]
rs2301652	0.81[CEU][hapmap]
rs2302415	0.82[CEU][hapmap]
rs2324141	0.85[CEU][hapmap]
rs2324142	0.85[CEU][hapmap]
rs35799415	0.84[AMR][1000 genomes]
rs3760298	0.96[CEU][hapmap]
rs3785628	0.85[CEU][hapmap]
rs3785631	1.00[CEU][hapmap]
rs3785633	1.00[CEU][hapmap]
rs3815039	1.00[CEU][hapmap]
rs3826360	1.00[CEU][hapmap]
rs4435297	0.81[CEU][hapmap]
rs4791662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4792715	0.82[CEU][hapmap]
rs4792717	0.83[CEU][hapmap]
rs4792718	0.82[CEU][hapmap]
rs545738	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6416868	0.82[CEU][hapmap]
rs6502488	0.85[CEU][hapmap]
rs7214695	0.82[CEU][hapmap]
rs7216834	0.86[AMR][1000 genomes]
rs7223346	0.85[CEU][hapmap]
rs758853	0.96[CEU][hapmap]
rs8076864	1.00[CEU][hapmap]
rs8079969	0.85[CEU][hapmap]
rs9890012	1.00[CEU][hapmap]
rs9891379	1.00[CEU][hapmap]
rs9891646	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9891938	0.82[CEU][hapmap]
rs9899002	0.96[CEU][hapmap]
rs9902141	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.80[EUR][1000 genomes]
rs9903464	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9907313	0.86[AMR][1000 genomes]
rs9908031	1.00[CEU][hapmap]
rs9909697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv833377	chr17:15912013-16104515	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active 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
6	nsv522169	chr17:15923709-16147821	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv907712	chr17:15981874-16103426	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv907713	chr17:15981874-16127206	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv907714	chr17:15990013-16110384	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv907715	chr17:16019978-16206540	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
11	nsv907716	chr17:16068422-16116835	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv907717	chr17:16076898-16239832	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
13	nsv907718	chr17:16080849-16143709	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
14	nsv960423	chr17:16089865-16112673	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv528263	chr17:16097430-16196996	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs178809	ZSWIM7	cis	Muscle Skeletal	GTEx
rs178809	ADORA2B	cis	Adipose Subcutaneous	GTEx
rs178809	ADORA2B	cis	Thyroid	GTEx
rs178809	LOC125150	cis	uninvolved skin	skin_eQTL
rs178809	ADORA2B	cis	Nerve Tibial	GTEx
rs178809	TTC19	Cis_1M	lymphoblastoid	RTeQTL
rs178809	ADORA2B	cis	Artery Tibial	GTEx
rs178809	ADORA2B	cis	Muscle Skeletal	GTEx
rs178809	CENPV	cis	Artery Tibial	GTEx
rs178809	ADORA2B	cis	lung	GTEx
rs178809	NCOR1	Cis_1M	lymphoblastoid	RTeQTL
rs178809	LOC125150	cis	normal skin	skin_eQTL
rs178809	ZSWIM7	Cis_1M	lymphoblastoid	RTeQTL
rs178809	ADORA2B	cis	Esophagus Muscularis	GTEx
rs178809	LOC125150	cis	lesional skin	skin_eQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16035800-16103400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr17:16049200-16103400	Weak transcription	Spleen	Spleen
3	chr17:16049200-16108600	Weak transcription	Esophagus	oesophagus
4	chr17:16052200-16100400	Weak transcription	Ovary	ovary
5	chr17:16055200-16102600	Weak transcription	Brain Angular Gyrus	brain
6	chr17:16055400-16104000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr17:16055800-16102000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr17:16059400-16102400	Weak transcription	Small Intestine	intestine
9	chr17:16059400-16102400	Weak transcription	NHLF	lung
10	chr17:16059400-16102800	Weak transcription	Pancreas	Pancrea
11	chr17:16064000-16101000	Weak transcription	Lung	lung
12	chr17:16064600-16106000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr17:16086600-16101600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr17:16086600-16102400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr17:16086800-16102200	Weak transcription	Stomach Mucosa	stomach
16	chr17:16087200-16108200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:16088000-16117000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr17:16088200-16101800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr17:16088200-16102200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr17:16088200-16116200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr17:16088600-16101200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:16089400-16103400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:16089400-16104000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr17:16089600-16104400	Weak transcription	HSMMtube	muscle
25	chr17:16089600-16114600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr17:16090000-16100200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr17:16090000-16116800	Weak transcription	NH-A	brain
28	chr17:16090400-16102600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr17:16090400-16105200	Weak transcription	Colonic Mucosa	Colon
30	chr17:16092000-16103400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr17:16092400-16102400	Weak transcription	Right Atrium	heart
32	chr17:16093600-16103400	Weak transcription	Left Ventricle	heart
33	chr17:16093600-16117000	Weak transcription	Aorta	Aorta
34	chr17:16094400-16102600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr17:16094400-16104000	Weak transcription	Fetal Brain Female	brain
36	chr17:16094600-16102400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr17:16094600-16105000	Weak transcription	Gastric	stomach
38	chr17:16094800-16101800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr17:16094800-16102200	Weak transcription	Colon Smooth Muscle	Colon
40	chr17:16094800-16102400	Weak transcription	HMEC	breast
41	chr17:16094800-16104200	Weak transcription	Brain Germinal Matrix	brain
42	chr17:16094800-16106000	Weak transcription	Fetal Heart	heart
43	chr17:16095000-16106200	Weak transcription	Hela-S3	cervix
44	chr17:16095200-16100200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr17:16095200-16117000	Weak transcription	Right Ventricle	heart
46	chr17:16095400-16100200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr17:16095400-16102400	Weak transcription	NHEK	skin
48	chr17:16095600-16100200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr17:16096000-16100200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr17:16096400-16102400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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