Variant report

Variant	rs178800
Chromosome Location	chr17:16108926-16108927
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	chr17:16108186..16110773-chr17:16115629..16120771,4	MCF-7	breast:
2	chr17:16108588..16110753-chr17:16116954..16119421,3	K562	blood:

Variant related genes	Relation type
ENSG00000141027	Chromatin interaction
ENSG00000108474	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10852833	0.86[AMR][1000 genomes]
rs11078332	0.92[AMR][1000 genomes]
rs1125156	0.81[AMR][1000 genomes]
rs1126148	0.90[AMR][1000 genomes]
rs1160109	0.97[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11650678	0.92[AMR][1000 genomes]
rs11655773	0.94[AMR][1000 genomes]
rs11872032	0.84[AMR][1000 genomes]
rs12150017	0.92[AMR][1000 genomes]
rs12939418	0.84[AMR][1000 genomes]
rs12947205	0.87[AMR][1000 genomes]
rs178657	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs178658	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs178659	0.97[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs178662	0.94[AMR][1000 genomes]
rs178789	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs178790	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs178791	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs178792	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs178793	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs178794	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs178795	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs178796	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs178797	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs178798	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs178799	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs178801	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs178802	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs178803	0.81[ASN][1000 genomes]
rs178804	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs178805	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs178806	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs178808	0.81[EUR][1000 genomes]
rs178809	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs178816	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs178817	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs178820	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs178829	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs178830	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs178834	0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs178837	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1972503	0.97[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1989856	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs21180	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34243080	0.81[AMR][1000 genomes]
rs34351630	0.85[AMR][1000 genomes]
rs35160872	0.88[AMR][1000 genomes]
rs35799415	0.92[AMR][1000 genomes]
rs4791662	0.86[AMR][1000 genomes]
rs545738	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7207889	0.84[AMR][1000 genomes]
rs7216834	0.97[AMR][1000 genomes]
rs72833498	0.81[AMR][1000 genomes]
rs8080706	0.86[AMR][1000 genomes]
rs9891646	0.97[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9902141	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9903464	0.90[AMR][1000 genomes]
rs9907313	0.97[AMR][1000 genomes]
rs9909697	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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:12)

SNP	Gene	Cis/trans	Tissue	Source
rs178800	NCOR1	Cis_1M	lymphoblastoid	RTeQTL
rs178800	ADORA2B	cis	Nerve Tibial	GTEx
rs178800	ADORA2B	cis	Esophagus Muscularis	GTEx
rs178800	ADORA2B	cis	Muscle Skeletal	GTEx
rs178800	ADORA2B	cis	Thyroid	GTEx
rs178800	ADORA2B	cis	Adipose Subcutaneous	GTEx
rs178800	ADORA2B	cis	lung	GTEx
rs178800	TTC19	Cis_1M	lymphoblastoid	RTeQTL
rs178800	ZSWIM7	Cis_1M	lymphoblastoid	RTeQTL
rs178800	CENPV	cis	Artery Tibial	GTEx
rs178800	ZSWIM7	cis	Muscle Skeletal	GTEx
rs178800	ADORA2B	cis	Artery Tibial	GTEx

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16088000-16117000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr17:16088200-16116200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr17:16089600-16114600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr17:16090000-16116800	Weak transcription	NH-A	brain
5	chr17:16093600-16117000	Weak transcription	Aorta	Aorta
6	chr17:16095200-16117000	Weak transcription	Right Ventricle	heart
7	chr17:16101200-16114800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr17:16101600-16116000	Weak transcription	Thymus	Thymus
9	chr17:16101800-16111000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr17:16101800-16117000	Weak transcription	Fetal Stomach	stomach
11	chr17:16102200-16110200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr17:16102400-16116800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr17:16102800-16111800	Weak transcription	K562	blood
14	chr17:16103200-16111800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:16104000-16117000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr17:16104200-16114600	Weak transcription	Primary B cells from cord blood	blood
17	chr17:16105200-16116000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr17:16105200-16117000	Weak transcription	NHEK	skin
19	chr17:16105400-16116200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr17:16105400-16118000	Weak transcription	Spleen	Spleen
21	chr17:16106400-16114200	Weak transcription	Psoas Muscle	Psoas
22	chr17:16106400-16116800	Weak transcription	NHLF	lung
23	chr17:16106400-16117000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr17:16106800-16109800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr17:16106800-16110000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr17:16106800-16110600	Weak transcription	Colonic Mucosa	Colon
27	chr17:16106800-16111800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr17:16106800-16112200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr17:16106800-16114600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr17:16106800-16114600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr17:16106800-16114600	Weak transcription	Ovary	ovary
32	chr17:16106800-16115000	Weak transcription	Adipose Nuclei	Adipose
33	chr17:16106800-16115000	Weak transcription	Hela-S3	cervix
34	chr17:16106800-16115400	Weak transcription	Left Ventricle	heart
35	chr17:16106800-16116000	Weak transcription	Right Atrium	heart
36	chr17:16106800-16116800	Weak transcription	Fetal Lung	lung
37	chr17:16106800-16118000	Weak transcription	Lung	lung
38	chr17:16107000-16110000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr17:16107000-16114200	Weak transcription	HepG2	liver
40	chr17:16107000-16114600	Weak transcription	Primary T cells from cord blood	blood
41	chr17:16107000-16115400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr17:16107000-16115600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr17:16107000-16116000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr17:16107000-16116800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr17:16107000-16117000	Weak transcription	Brain Anterior Caudate	brain
46	chr17:16107000-16117000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr17:16107200-16116000	Weak transcription	Fetal Intestine Large	intestine
48	chr17:16107600-16109600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr17:16108000-16109400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr17:16108200-16109600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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