Variant report

Variant	rs73033142
Chromosome Location	chr19:38094820-38094821
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	chr19:38094621..38097474-chr19:38099198..38101401,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10445548	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1048505	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1061753	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1061756	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12151156	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17244713	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17244769	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17303902	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17304703	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17305193	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17305228	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17305823	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1871196	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2291001	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2306201	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2385005	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35153242	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55681348	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55718806	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55743020	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55754546	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55865869	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55909413	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56277404	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57654288	0.98[EUR][1000 genomes]
rs57943942	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62108291	0.83[EUR][1000 genomes]
rs62108306	0.81[EUR][1000 genomes]
rs7259272	0.81[EUR][1000 genomes]
rs73031330	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73033122	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73033134	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73035159	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73035160	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73039029	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8101610	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8104282	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8104994	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8108268	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8111790	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS 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 target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs73033142	AC012309.5	cis	lung	GTEx
rs73033142	ZNF781	cis	Thyroid	GTEx
rs73033142	AC012309.5	cis	Thyroid	GTEx
rs73033142	AC012309.5	cis	Muscle Skeletal	GTEx
rs73033142	AC012309.5	cis	Skin Sun Exposed Lower leg	GTEx
rs73033142	AC012309.5	cis	Esophagus Muscularis	GTEx
rs73033142	AC012309.5	cis	Artery Tibial	GTEx
rs73033142	AC012309.5	cis	Esophagus Mucosa	GTEx
rs73033142	AC012309.5	cis	Heart Left Ventricle	GTEx

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38086400-38095600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr19:38086400-38095600	Weak transcription	Stomach Mucosa	stomach
3	chr19:38086600-38098200	Weak transcription	Colonic Mucosa	Colon
4	chr19:38086600-38098800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr19:38086600-38099400	Weak transcription	Fetal Stomach	stomach
6	chr19:38086600-38103200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr19:38086800-38095600	Weak transcription	Fetal Kidney	kidney
8	chr19:38087200-38099400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr19:38087200-38100200	Weak transcription	Right Ventricle	heart
10	chr19:38087200-38103000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr19:38087800-38107400	ZNF genes & repeats	Liver	Liver
12	chr19:38089200-38107200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
13	chr19:38089400-38095200	Strong transcription	Brain Anterior Caudate	brain
14	chr19:38089600-38095200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr19:38090400-38097600	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr19:38090400-38105200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
17	chr19:38090600-38105400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
18	chr19:38091200-38096200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr19:38091200-38101000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:38092200-38103400	Weak transcription	Thymus	Thymus
21	chr19:38092400-38102400	Weak transcription	Dnd41	blood
22	chr19:38092600-38095400	Weak transcription	Fetal Intestine Large	intestine
23	chr19:38092600-38095800	Weak transcription	Fetal Lung	lung
24	chr19:38092600-38097200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr19:38093200-38095400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr19:38093200-38095600	Weak transcription	Colon Smooth Muscle	Colon
27	chr19:38093400-38100200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
28	chr19:38093600-38095400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr19:38093600-38102800	Weak transcription	Fetal Brain Female	brain
30	chr19:38093600-38105000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
31	chr19:38093800-38095600	Weak transcription	Primary B cells from cord blood	blood
32	chr19:38093800-38095600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr19:38093800-38095600	Weak transcription	Ovary	ovary
34	chr19:38093800-38095600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr19:38093800-38095800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr19:38093800-38097000	Weak transcription	Brain Angular Gyrus	brain
37	chr19:38093800-38097000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr19:38093800-38099600	Weak transcription	Pancreas	Pancrea
39	chr19:38093800-38101000	Weak transcription	Psoas Muscle	Psoas
40	chr19:38094000-38095000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr19:38094000-38095600	Weak transcription	Primary T cells from cord blood	blood
42	chr19:38094000-38095600	Weak transcription	Brain Substantia Nigra	brain
43	chr19:38094000-38095600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr19:38094200-38095400	Weak transcription	Left Ventricle	heart
45	chr19:38094200-38096400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr19:38094200-38097400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr19:38094200-38098400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr19:38094200-38098800	Weak transcription	Aorta	Aorta
49	chr19:38094200-38098800	Weak transcription	Lung	lung
50	chr19:38094400-38095000	Strong transcription	Primary T helper naive cells from peripheral blood	blood

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