Variant report

Variant	rs8102342
Chromosome Location	chr19:21584467-21584468
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 147 )
Associated
traits (count: 28 )

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs10405716	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1055753	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10854043	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11085443	0.81[ASN][1000 genomes]
rs11085447	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1142653	0.92[ASN][1000 genomes]
rs11667770	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11668691	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11669043	0.81[ASN][1000 genomes]
rs11669588	0.86[ASN][1000 genomes]
rs11673304	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11673406	0.81[ASN][1000 genomes]
rs12459702	0.82[ASN][1000 genomes]
rs12461384	0.85[ASN][1000 genomes]
rs12462022	0.83[ASN][1000 genomes]
rs12971736	0.89[ASN][1000 genomes]
rs12972339	0.83[ASN][1000 genomes]
rs12972580	0.92[ASN][1000 genomes]
rs12974735	0.90[ASN][1000 genomes]
rs12975081	0.91[ASN][1000 genomes]
rs12975464	0.90[ASN][1000 genomes]
rs12978116	0.85[ASN][1000 genomes]
rs12979646	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12980097	0.85[ASN][1000 genomes]
rs12981564	0.92[ASN][1000 genomes]
rs12981735	0.92[ASN][1000 genomes]
rs12981775	0.92[ASN][1000 genomes]
rs12981777	0.86[ASN][1000 genomes]
rs12982162	0.92[ASN][1000 genomes]
rs12982282	0.92[ASN][1000 genomes]
rs12983426	0.86[ASN][1000 genomes]
rs12983787	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12984871	0.92[ASN][1000 genomes]
rs1813234	0.83[ASN][1000 genomes]
rs1932088	0.86[ASN][1000 genomes]
rs1963531	0.89[ASN][1000 genomes]
rs1963532	0.90[ASN][1000 genomes]
rs1976384	0.95[ASN][1000 genomes]
rs2012013	0.90[ASN][1000 genomes]
rs2012038	0.90[ASN][1000 genomes]
rs2061917	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2061918	0.89[ASN][1000 genomes]
rs2061919	0.89[ASN][1000 genomes]
rs2086317	0.87[ASN][1000 genomes]
rs2086318	0.89[ASN][1000 genomes]
rs2086320	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2088762	0.92[ASN][1000 genomes]
rs2102072	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2127404	0.92[ASN][1000 genomes]
rs2127405	0.92[ASN][1000 genomes]
rs2127406	0.92[ASN][1000 genomes]
rs2127407	0.92[ASN][1000 genomes]
rs2127408	0.92[ASN][1000 genomes]
rs2133819	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2170024	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2170025	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2173728	0.81[ASN][1000 genomes]
rs2219840	0.92[ASN][1000 genomes]
rs2358982	0.88[ASN][1000 genomes]
rs2358983	0.88[ASN][1000 genomes]
rs2358984	0.86[ASN][1000 genomes]
rs2358985	0.89[ASN][1000 genomes]
rs2358986	0.92[ASN][1000 genomes]
rs2358988	0.92[ASN][1000 genomes]
rs2358989	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2358990	0.92[ASN][1000 genomes]
rs2358991	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2358992	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2434997	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2650774	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2650810	0.82[ASN][1000 genomes]
rs2650845	0.82[ASN][1000 genomes]
rs2650847	0.82[ASN][1000 genomes]
rs2884601	0.89[ASN][1000 genomes]
rs2914629	0.81[ASN][1000 genomes]
rs2914638	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2928208	0.86[ASN][1000 genomes]
rs35580411	0.83[ASN][1000 genomes]
rs35773446	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4315457	0.91[ASN][1000 genomes]
rs4341872	0.82[ASN][1000 genomes]
rs4438422	0.91[ASN][1000 genomes]
rs4461198	0.82[ASN][1000 genomes]
rs4566304	0.87[ASN][1000 genomes]
rs4621113	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62110418	0.80[EUR][1000 genomes]
rs6511228	0.86[ASN][1000 genomes]
rs6511229	0.89[ASN][1000 genomes]
rs6511231	0.92[ASN][1000 genomes]
rs6511232	0.92[ASN][1000 genomes]
rs6511233	0.92[ASN][1000 genomes]
rs6511237	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6511238	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6511239	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6511242	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6511245	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6511246	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7245920	0.92[ASN][1000 genomes]
rs7247411	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7248601	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7248989	0.81[ASN][1000 genomes]
rs7249412	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7252261	0.88[ASN][1000 genomes]
rs7252873	0.86[ASN][1000 genomes]
rs7253178	0.86[ASN][1000 genomes]
rs7253886	0.81[ASN][1000 genomes]
rs7254059	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7256361	0.85[ASN][1000 genomes]
rs7257580	0.93[ASN][1000 genomes]
rs7257857	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7258086	0.86[ASN][1000 genomes]
rs7258335	0.92[ASN][1000 genomes]
rs7259311	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7260369	0.85[ASN][1000 genomes]
rs7508030	0.89[ASN][1000 genomes]
rs7508092	0.90[ASN][1000 genomes]
rs7508104	0.87[ASN][1000 genomes]
rs7508671	0.91[ASN][1000 genomes]
rs8099940	0.92[ASN][1000 genomes]
rs8102328	0.86[ASN][1000 genomes]
rs8103325	0.92[ASN][1000 genomes]
rs8103459	0.92[ASN][1000 genomes]
rs8103908	0.92[ASN][1000 genomes]
rs8104017	0.90[ASN][1000 genomes]
rs8106936	0.95[ASN][1000 genomes]
rs8107999	0.80[EUR][1000 genomes]
rs8110690	0.92[ASN][1000 genomes]
rs8110842	0.82[ASN][1000 genomes]
rs8110967	0.89[ASN][1000 genomes]
rs8111549	0.84[ASN][1000 genomes]
rs8112059	0.84[ASN][1000 genomes]
rs8112583	0.92[ASN][1000 genomes]

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	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers 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 target site	35 gene(s)	inside rSNPs	diseases
5	nsv911420	chr19:21454672-21613397	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers 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 miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	esv1793996	chr19:21544242-21609607	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv1801985	chr19:21544242-21609607	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv1844586	chr19:21544242-21609607	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv1834499	chr19:21557835-21609607	Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	esv1834993	chr19:21557835-21609607	Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv911421	chr19:21579718-21613397	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
15	nsv978789	chr19:21579953-21589286	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:28)

SNP	Gene	Cis/trans	Tissue	Source
rs8102342	RP11-678G14.2	cis	Skin Sun Exposed Lower leg	GTEx
rs8102342	CTD-2561J22.5	cis	Thyroid	GTEx
rs8102342	ZNF493	cis	Thyroid	GTEx
rs8102342	RP11-678G14.2	cis	lung	GTEx
rs8102342	CTD-2561J22.5	cis	Nerve Tibial	GTEx
rs8102342	RP11-678G14.2	cis	Artery Tibial	GTEx
rs8102342	CTD-2561J22.5	cis	Esophagus Muscularis	GTEx
rs8102342	CTD-2561J22.5	cis	Adipose Subcutaneous	GTEx
rs8102342	CTD-2561J22.5	cis	lung	GTEx
rs8102342	ZNF708	cis	Skin Sun Exposed Lower leg	GTEx
rs8102342	ZNF429	cis	Whole Blood	GTEx
rs8102342	RP11-678G14.3	cis	Skin Sun Exposed Lower leg	GTEx
rs8102342	RP11-678G14.3	cis	Adipose Subcutaneous	GTEx
rs8102342	LINC00664	cis	Adipose Subcutaneous	GTEx
rs8102342	RP11-420K14.2	cis	Heart Left Ventricle	GTEx
rs8102342	RP11-678G14.2	cis	Whole Blood	GTEx
rs8102342	RP11-678G14.2	cis	Nerve Tibial	GTEx
rs8102342	RP11-678G14.2	cis	Adipose Subcutaneous	GTEx
rs8102342	RP11-678G14.2	cis	Muscle Skeletal	GTEx
rs8102342	ZNF493	Cis_1M	lymphoblastoid	RTeQTL
rs8102342	RP11-678G14.3	cis	lung	GTEx
rs8102342	ZNF738	Cis_1M	lymphoblastoid	RTeQTL
rs8102342	CTD-2561J22.5	cis	Skin Sun Exposed Lower leg	GTEx
rs8102342	RP11-678G14.3	cis	Whole Blood	GTEx
rs8102342	ZNF429	cis	Muscle Skeletal	GTEx
rs8102342	RP11-678G14.2	cis	Thyroid	GTEx
rs8102342	CTD-2561J22.5	cis	Artery Tibial	GTEx
rs8102342	RP11-678G14.3	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21580600-21585000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr19:21580600-21592600	Weak transcription	Placenta	Placenta
3	chr19:21580600-21593200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:21580600-21593600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:21580600-21600200	Weak transcription	Gastric	stomach
6	chr19:21580600-21602400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:21580800-21595400	Weak transcription	HUVEC	blood vessel
8	chr19:21581000-21584600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:21581000-21591800	Weak transcription	Pancreas	Pancrea
10	chr19:21581000-21596200	Weak transcription	Aorta	Aorta
11	chr19:21581000-21598800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:21581200-21590200	Weak transcription	NHLF	lung
13	chr19:21581400-21585200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr19:21581400-21585400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr19:21581400-21585400	Weak transcription	Colonic Mucosa	Colon
16	chr19:21581400-21586200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr19:21581400-21588400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr19:21581400-21588600	Weak transcription	Fetal Stomach	stomach
19	chr19:21581400-21589000	Weak transcription	K562	blood
20	chr19:21581400-21592000	Weak transcription	NH-A	brain
21	chr19:21581400-21594600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr19:21581400-21596800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr19:21581400-21598800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr19:21581600-21584600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr19:21581600-21585000	Weak transcription	Fetal Heart	heart
26	chr19:21581600-21585200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr19:21581600-21585200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:21581600-21585200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr19:21581600-21585200	Weak transcription	Spleen	Spleen
30	chr19:21581600-21585600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr19:21581600-21585600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr19:21581600-21585600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr19:21581600-21588000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr19:21581600-21589000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr19:21581600-21590000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr19:21581600-21591800	Weak transcription	Right Ventricle	heart
37	chr19:21581600-21592200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr19:21581600-21592400	Weak transcription	Brain Angular Gyrus	brain
39	chr19:21581600-21592400	Weak transcription	Fetal Kidney	kidney
40	chr19:21581600-21594600	Weak transcription	HepG2	liver
41	chr19:21581600-21601800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr19:21581800-21588400	Weak transcription	Small Intestine	intestine
43	chr19:21581800-21588800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr19:21581800-21607000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr19:21582000-21585200	Weak transcription	Ovary	ovary
46	chr19:21582000-21586000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
47	chr19:21582000-21588400	Weak transcription	Adipose Nuclei	Adipose
48	chr19:21582200-21590800	Weak transcription	Fetal Lung	lung
49	chr19:21582400-21585400	Weak transcription	Left Ventricle	heart
50	chr19:21582600-21586200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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