Variant report

Variant	rs7508044
Chromosome Location	chr19:21543803-21543804
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 23 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10854043	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11085441	0.84[EUR][1000 genomes]
rs11085447	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1142653	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11669588	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11673304	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11882553	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12459702	0.86[EUR][1000 genomes]
rs12461384	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12462022	0.87[EUR][1000 genomes]
rs12610331	0.84[EUR][1000 genomes]
rs12971736	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12972339	0.85[EUR][1000 genomes]
rs12972580	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12972601	0.83[EUR][1000 genomes]
rs12974735	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12975081	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12975464	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12978116	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12980097	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12981564	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12981735	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12981775	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12981777	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12982162	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12982282	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12982346	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12983426	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12984300	0.85[EUR][1000 genomes]
rs12984871	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1781873	0.84[EUR][1000 genomes]
rs1932088	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1963531	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1963532	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2012013	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2012038	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2061917	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2061918	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2061919	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2086317	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2086318	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2086320	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2088762	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2102072	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2127404	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2127405	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2127406	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2127407	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2127408	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2170024	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2170025	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2219840	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2358982	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2358983	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2358985	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2358986	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2358988	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2358989	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2358990	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2358991	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2358992	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2434997	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28688205	0.84[EUR][1000 genomes]
rs2884601	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2914638	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2968025	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35580411	0.85[EUR][1000 genomes]
rs4315457	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4398213	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4430876	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4438422	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4525621	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4566304	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6511222	0.85[EUR][1000 genomes]
rs6511229	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6511231	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6511232	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6511233	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6511237	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7245920	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7247411	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7248601	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7252261	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7253178	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7256361	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7257580	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7258335	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7260369	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7508030	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7508045	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7508072	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7508087	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7508092	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7508104	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7508671	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8099940	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8103325	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8103459	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8103908	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8104017	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8110690	0.90[EUR][1000 genomes]
rs8110842	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8110967	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8112059	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8112583	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv911416	chr19:21388995-21548211	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv911417	chr19:21388995-21564001	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	nsv963023	chr19:21491992-21570395	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription 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
11	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

mRNA abundance (count:23)

SNP	Gene	Cis/trans	Tissue	Source
rs7508044	CTD-2561J22.5	cis	Artery Tibial	GTEx
rs7508044	CTD-2561J22.5	cis	Thyroid	GTEx
rs7508044	CTD-2561J22.5	cis	lung	GTEx
rs7508044	ZNF493	cis	Thyroid	GTEx
rs7508044	RP11-678G14.3	cis	Adipose Subcutaneous	GTEx
rs7508044	RP11-678G14.3	cis	Skin Sun Exposed Lower leg	GTEx
rs7508044	CTD-2561J22.5	cis	Stomach	GTEx
rs7508044	ZNF708	cis	Skin Sun Exposed Lower leg	GTEx
rs7508044	RP11-678G14.2	cis	Adipose Subcutaneous	GTEx
rs7508044	RP11-678G14.2	cis	lung	GTEx
rs7508044	CTD-2561J22.5	cis	Adipose Subcutaneous	GTEx
rs7508044	CTD-2561J22.5	cis	Esophagus Muscularis	GTEx
rs7508044	ZNF493	Cis_1M	lymphoblastoid	RTeQTL
rs7508044	RP11-420K14.2	cis	Heart Left Ventricle	GTEx
rs7508044	RP11-678G14.2	cis	Thyroid	GTEx
rs7508044	RP11-678G14.2	cis	Artery Tibial	GTEx
rs7508044	CTD-2561J22.5	cis	Skin Sun Exposed Lower leg	GTEx
rs7508044	CTD-2561J22.5	cis	Nerve Tibial	GTEx
rs7508044	ZNF738	Cis_1M	lymphoblastoid	RTeQTL
rs7508044	RP11-678G14.3	cis	Muscle Skeletal	GTEx
rs7508044	RP11-678G14.2	cis	Muscle Skeletal	GTEx
rs7508044	RP11-678G14.2	cis	Whole Blood	GTEx
rs7508044	RP11-678G14.2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21542200-21547800	Weak transcription	Spleen	Spleen
2	chr19:21542400-21544000	Weak transcription	Fetal Lung	lung
3	chr19:21542400-21544400	Weak transcription	Left Ventricle	heart
4	chr19:21542400-21549000	Weak transcription	A549	lung
5	chr19:21542400-21550200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:21542400-21550400	Weak transcription	Lung	lung
7	chr19:21542400-21555400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr19:21542400-21555400	Weak transcription	Psoas Muscle	Psoas
9	chr19:21542400-21555600	Weak transcription	Colonic Mucosa	Colon
10	chr19:21542400-21557800	Weak transcription	Gastric	stomach
11	chr19:21542400-21562200	Weak transcription	Colon Smooth Muscle	Colon
12	chr19:21542400-21562200	Weak transcription	Fetal Heart	heart
13	chr19:21542400-21563200	Weak transcription	Brain Substantia Nigra	brain
14	chr19:21542600-21544400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr19:21542600-21544400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr19:21542600-21545200	Weak transcription	Adipose Nuclei	Adipose
17	chr19:21542600-21550400	Weak transcription	Esophagus	oesophagus
18	chr19:21542600-21550400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr19:21542600-21550400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr19:21542600-21555000	Weak transcription	Brain Hippocampus Middle	brain
21	chr19:21542600-21555000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr19:21542600-21555000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr19:21542600-21555200	Weak transcription	Brain Anterior Caudate	brain
24	chr19:21542600-21555600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr19:21542600-21561400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr19:21542600-21561400	Weak transcription	Pancreas	Pancrea
27	chr19:21542800-21544200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr19:21542800-21544400	Weak transcription	Fetal Intestine Large	intestine
29	chr19:21542800-21544400	Weak transcription	Placenta	Placenta
30	chr19:21542800-21544400	Weak transcription	Fetal Thymus	thymus
31	chr19:21542800-21544400	Weak transcription	Ovary	ovary
32	chr19:21542800-21545200	Weak transcription	HSMMtube	muscle
33	chr19:21542800-21548000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:21542800-21548400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr19:21542800-21550400	Weak transcription	Aorta	Aorta
36	chr19:21542800-21555000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr19:21542800-21561400	Weak transcription	Right Ventricle	heart
38	chr19:21543000-21544200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr19:21543000-21544200	Weak transcription	Primary B cells from cord blood	blood
40	chr19:21543000-21544200	Weak transcription	NHDF-Ad	bronchial
41	chr19:21543000-21544400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr19:21543000-21544400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr19:21543000-21544600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:21543000-21544600	Weak transcription	NHEK	skin
45	chr19:21543000-21545000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr19:21543000-21545000	Weak transcription	NH-A	brain
47	chr19:21543000-21545400	Transcr. at gene 5' and 3'	Dnd41	blood
48	chr19:21543000-21548000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr19:21543000-21549200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:21543000-21549800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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