Variant report

Variant	rs178814
Chromosome Location	chr17:16094155-16094156
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16092087..16094482-chr17:16096479..16099127,2	MCF-7	breast:
2	chr17:16092491..16094768-chr17:16118634..16120351,2	K562	blood:

Variant related genes	Relation type
ENSG00000141027	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10451230	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1065822	0.86[CEU][hapmap];0.86[JPT][hapmap]
rs1075901	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1079533	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs1125156	0.86[CEU][hapmap];0.86[JPT][hapmap]
rs1160109	0.83[CEU][hapmap]
rs11650678	0.83[CEU][hapmap]
rs11651290	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs11657160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11658564	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11869450	0.96[CEU][hapmap];0.85[CHB][hapmap]
rs11870608	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11872032	0.83[CEU][hapmap]
rs12946619	0.82[CEU][hapmap];0.92[CHB][hapmap]
rs178653	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs178654	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs178657	0.85[CEU][hapmap]
rs178787	0.85[CEU][hapmap];0.92[CHB][hapmap]
rs178789	0.89[CEU][hapmap]
rs178791	0.89[CEU][hapmap]
rs178797	0.89[CEU][hapmap]
rs178798	0.85[CEU][hapmap]
rs178799	0.83[CEU][hapmap]
rs178802	0.82[CEU][hapmap]
rs178805	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs178807	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs178809	0.83[CEU][hapmap]
rs178810	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs178815	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs178816	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs178817	0.82[EUR][1000 genomes]
rs178818	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs178820	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs178821	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs178822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs178824	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs178825	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs178826	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs178827	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs178828	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs178829	0.82[EUR][1000 genomes]
rs178831	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs178833	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs178834	0.82[EUR][1000 genomes]
rs178835	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs178836	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs178838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs178839	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1989856	0.85[CEU][hapmap]
rs2041460	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs2078050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs2157990	0.96[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.87[YRI][hapmap]
rs2157991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2157992	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs2285579	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2285580	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2301652	0.82[CEU][hapmap]
rs2302415	0.96[CEU][hapmap];0.85[CHB][hapmap]
rs2324141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2324142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2875265	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3760293	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3760298	0.82[CEU][hapmap];0.85[JPT][hapmap]
rs3785628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3785631	0.85[CEU][hapmap]
rs3785632	0.82[CEU][hapmap]
rs3785633	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs3815039	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs3826360	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs4435297	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs4470185	0.92[CHB][hapmap]
rs4566208	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4791662	0.83[CEU][hapmap]
rs4792715	0.96[CEU][hapmap];0.85[CHB][hapmap]
rs4792717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs4792718	0.96[CEU][hapmap]
rs4792721	0.85[CEU][hapmap]
rs545738	0.81[EUR][1000 genomes]
rs55844265	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6416868	0.96[CEU][hapmap];0.85[CHB][hapmap]
rs6502482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6502488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6502490	0.85[AMR][1000 genomes]
rs6502491	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7207463	0.82[EUR][1000 genomes]
rs7214695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7222886	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7223346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs758853	0.82[CEU][hapmap];0.85[JPT][hapmap]
rs8064702	0.80[AMR][1000 genomes]
rs8076864	0.89[CEU][hapmap]
rs8079969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8081667	0.81[AMR][1000 genomes]
rs9890012	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs9891379	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs9891938	0.96[CEU][hapmap];0.92[CHB][hapmap]
rs9897388	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9899002	0.86[CEU][hapmap];0.86[JPT][hapmap]
rs9902141	0.85[CEU][hapmap]
rs9905225	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9907273	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9908031	0.89[CEU][hapmap];0.84[JPT][hapmap]
rs9908591	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9909697	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv1064878	chr17:15869557-16097241	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv1055173	chr17:15875935-16097241	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs178814	ZSWIM7	cis	Muscle Skeletal	GTEx
rs178814	LOC125150	cis	normal skin	skin_eQTL
rs178814	ADORA2B	cis	Artery Tibial	GTEx
rs178814	ADORA2B	cis	Heart Left Ventricle	GTEx
rs178814	TTC19	Cis_1M	lymphoblastoid	RTeQTL
rs178814	ADORA2B	cis	Esophagus Muscularis	GTEx
rs178814	LOC125150	cis	uninvolved skin	skin_eQTL
rs178814	ADORA2B	cis	Nerve Tibial	GTEx
rs178814	ZSWIM7	Cis_1M	lymphoblastoid	RTeQTL
rs178814	ADORA2B	cis	Muscle Skeletal	GTEx
rs178814	Hs.379903	cis	multi-tissue	Pritchard
rs178814	NCOR1	Cis_1M	lymphoblastoid	RTeQTL
rs178814	LOC125150	cis	lesional skin	skin_eQTL
rs178814	ADORA2B	cis	Thyroid	GTEx
rs178814	CENPV	cis	Artery Tibial	GTEx
rs178814	ADORA2B	cis	Adipose Subcutaneous	GTEx
rs178814	ADORA2B	cis	lung	GTEx

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	chr17:16039200-16096800	Weak transcription	K562	blood
3	chr17:16042000-16094200	Weak transcription	Psoas Muscle	Psoas
4	chr17:16049200-16103400	Weak transcription	Spleen	Spleen
5	chr17:16049200-16108600	Weak transcription	Esophagus	oesophagus
6	chr17:16052200-16100400	Weak transcription	Ovary	ovary
7	chr17:16055200-16102600	Weak transcription	Brain Angular Gyrus	brain
8	chr17:16055400-16104000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr17:16055800-16102000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr17:16059400-16094200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr17:16059400-16102400	Weak transcription	Small Intestine	intestine
12	chr17:16059400-16102400	Weak transcription	NHLF	lung
13	chr17:16059400-16102800	Weak transcription	Pancreas	Pancrea
14	chr17:16064000-16101000	Weak transcription	Lung	lung
15	chr17:16064600-16106000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr17:16075400-16096800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr17:16083600-16097000	Weak transcription	Brain Hippocampus Middle	brain
18	chr17:16084000-16094200	Weak transcription	Gastric	stomach
19	chr17:16084800-16098000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr17:16086000-16098000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr17:16086600-16101600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr17:16086600-16102400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr17:16086800-16102200	Weak transcription	Stomach Mucosa	stomach
24	chr17:16087200-16097600	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr17:16087200-16098000	Strong transcription	Fetal Intestine Large	intestine
26	chr17:16087200-16108200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:16087400-16097400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr17:16088000-16117000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr17:16088200-16097000	Weak transcription	Fetal Brain Male	brain
30	chr17:16088200-16101800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr17:16088200-16102200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr17:16088200-16116200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr17:16088400-16097200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr17:16088600-16096800	Strong transcription	Fetal Intestine Small	intestine
35	chr17:16088600-16097000	Strong transcription	Fetal Stomach	stomach
36	chr17:16088600-16101200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr17:16089400-16097000	Weak transcription	Fetal Kidney	kidney
38	chr17:16089400-16103400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr17:16089400-16104000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr17:16089600-16104400	Weak transcription	HSMMtube	muscle
41	chr17:16089600-16114600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr17:16090000-16094200	Weak transcription	Brain Germinal Matrix	brain
43	chr17:16090000-16094200	Weak transcription	Fetal Lung	lung
44	chr17:16090000-16095800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr17:16090000-16096200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr17:16090000-16096200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr17:16090000-16100200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr17:16090000-16116800	Weak transcription	NH-A	brain
49	chr17:16090200-16094200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr17:16090200-16096200	Weak transcription	HSMM	muscle

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