Variant report

Variant	rs8182568
Chromosome Location	chr19:20136980-20136981
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10408129	0.80[EUR][1000 genomes]
rs10409512	0.92[ASN][1000 genomes]
rs10409629	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10410313	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10417027	0.82[ASN][1000 genomes]
rs10418140	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10419467	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10420011	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10420124	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10420900	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10423526	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10423976	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11085293	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11085294	0.86[ASN][1000 genomes]
rs1121387	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1121388	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11671950	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12977326	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12983056	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1319479	0.96[ASN][1000 genomes]
rs17767339	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1860939	0.85[ASN][1000 genomes]
rs1974650	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1974651	0.80[EUR][1000 genomes]
rs1987408	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2017721	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2041606	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2110124	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2110125	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2286920	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2286921	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2286922	0.86[ASN][1000 genomes]
rs2286923	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2335888	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2335889	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2335890	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2335892	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2335896	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2335897	0.86[ASN][1000 genomes]
rs258575	0.88[ASN][1000 genomes]
rs2878552	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4563152	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4809023	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5013556	0.80[EUR][1000 genomes]
rs6511066	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6511067	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6511069	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6511070	0.82[EUR][1000 genomes]
rs6511071	0.80[EUR][1000 genomes]
rs6511072	0.80[EUR][1000 genomes]
rs71944124	0.85[ASN][1000 genomes]
rs7247476	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7247483	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7247572	0.85[ASN][1000 genomes]
rs7247818	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7247843	0.89[ASN][1000 genomes]
rs7248117	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7248186	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7250923	0.95[ASN][1000 genomes]
rs7251276	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7256046	0.82[EUR][1000 genomes]
rs8101213	0.80[EUR][1000 genomes]
rs8101367	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8103577	0.92[ASN][1000 genomes]
rs8103855	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8104703	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8104933	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8106159	0.81[EUR][1000 genomes]
rs8106259	0.82[EUR][1000 genomes]
rs8106847	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8107041	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8109906	0.91[ASN][1000 genomes]
rs8112738	0.82[EUR][1000 genomes]
rs9304964	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9304965	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs963380	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs993044	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519535	chr19:19871250-20595412	Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
2	esv3319016	chr19:19917475-20819154	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
3	esv3319017	chr19:19917475-20819154	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
4	nsv1061846	chr19:19946927-20595412	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
5	esv3390957	chr19:19965887-20819154	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
6	nsv869122	chr19:19969851-20595412	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
7	nsv1057569	chr19:19973268-20193556	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1059158	chr19:19973489-20576161	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
9	nsv458376	chr19:20021046-20151257	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv578800	chr19:20021046-20151257	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv911319	chr19:20025940-20170214	ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv870354	chr19:20043821-20576175	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
13	nsv1062018	chr19:20053658-20193556	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv1066004	chr19:20053658-20592867	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription 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	35 gene(s)	inside rSNPs	diseases
15	nsv543932	chr19:20053658-20592867	Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
16	nsv1066564	chr19:20056348-20595412	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
17	nsv1066375	chr19:20061084-20574512	Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
18	nsv543934	chr19:20061084-20574512	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
19	esv3501977	chr19:20072180-20193556	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
20	esv3501978	chr19:20072180-20193556	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
21	nsv1057309	chr19:20072886-20595412	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
22	nsv578801	chr19:20084681-20595412	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
23	nsv1055694	chr19:20088866-20595412	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
24	nsv578802	chr19:20091702-20595412	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
25	nsv1066970	chr19:20093894-20164335	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
26	nsv1062725	chr19:20097317-20157102	Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
27	nsv1064400	chr19:20101052-20595412	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
28	nsv911322	chr19:20111134-20193556	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
29	nsv578803	chr19:20116963-20160115	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8182568	ZNF253	Cis_1M	lymphoblastoid	RTeQTL
rs8182568	ZNF253	cis	Nerve Tibial	GTEx
rs8182568	ZNF682	cis	Muscle Skeletal	GTEx
rs8182568	ZNF506	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20112200-20148600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:20119000-20142200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr19:20119400-20148800	Weak transcription	Gastric	stomach
4	chr19:20119400-20149400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr19:20119600-20148000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:20119600-20149600	Weak transcription	Pancreas	Pancrea
7	chr19:20119800-20148000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr19:20120400-20149600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr19:20121400-20149200	Weak transcription	NHDF-Ad	bronchial
10	chr19:20125200-20149600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:20126000-20143000	Weak transcription	HSMM	muscle
12	chr19:20128800-20140800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr19:20129400-20149400	Weak transcription	Fetal Kidney	kidney
14	chr19:20130000-20138200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr19:20130000-20139800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr19:20130000-20148800	Weak transcription	Fetal Heart	heart
17	chr19:20130400-20149400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr19:20130400-20149400	Weak transcription	NHLF	lung
19	chr19:20130600-20141800	Weak transcription	Colonic Mucosa	Colon
20	chr19:20131600-20138400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:20131600-20141600	Weak transcription	Psoas Muscle	Psoas
22	chr19:20131800-20141400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr19:20132400-20148800	Weak transcription	Spleen	Spleen
24	chr19:20133200-20138200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr19:20133800-20143200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr19:20133800-20148800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr19:20133800-20149000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr19:20134000-20138800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr19:20134000-20140800	Weak transcription	Primary T cells from cord blood	blood
30	chr19:20134000-20141600	Weak transcription	HSMMtube	muscle
31	chr19:20134000-20148800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr19:20134000-20148800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr19:20134000-20149200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr19:20134000-20149400	Weak transcription	Colon Smooth Muscle	Colon
35	chr19:20134000-20149600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr19:20134000-20149600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr19:20134200-20137200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr19:20134200-20137200	Weak transcription	Fetal Brain Female	brain
39	chr19:20134200-20138800	Weak transcription	Brain Angular Gyrus	brain
40	chr19:20134200-20139000	Weak transcription	Brain Substantia Nigra	brain
41	chr19:20134200-20139200	Weak transcription	Brain Anterior Caudate	brain
42	chr19:20134200-20139400	Weak transcription	Small Intestine	intestine
43	chr19:20134200-20140800	Weak transcription	Fetal Lung	lung
44	chr19:20134200-20141200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr19:20134200-20141600	Weak transcription	Primary B cells from cord blood	blood
46	chr19:20134200-20144600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr19:20134200-20148000	Weak transcription	Right Ventricle	heart
48	chr19:20134200-20148400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr19:20134200-20148400	Weak transcription	Aorta	Aorta
50	chr19:20134200-20148600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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