Variant report

Variant	rs2972430
Chromosome Location	chr19:38182111-38182112
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10402671	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10403173	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10404031	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10406379	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10408619	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10409605	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10410588	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10412510	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10412786	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10417576	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10420268	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10420552	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10425795	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11083432	0.98[EUR][1000 genomes]
rs11673023	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12459015	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1291	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12974225	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12979640	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13744	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1531549	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1564206	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1564208	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16958861	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16958863	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1974714	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1975937	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1975939	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2075284	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2287229	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2291002	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs241932	0.81[ASN][1000 genomes]
rs28512414	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2909085	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2909088	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2909093	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2909098	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2909100	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2909102	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2909105	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2909109	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2927739	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2927740	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2927742	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2927746	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2927747	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972434	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2972437	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2972438	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2972439	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2972445	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2972446	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972447	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972448	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2972452	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2972458	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3095724	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs3095726	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3101746	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3101747	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3112433	0.92[ASN][1000 genomes]
rs3112434	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35863684	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3829688	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4802024	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4802029	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4803215	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4803231	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4803233	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4803262	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4803263	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4803276	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4803287	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56151076	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs56317671	0.85[EUR][1000 genomes]
rs62108337	0.88[EUR][1000 genomes]
rs6508736	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8100646	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8103633	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8103647	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8110865	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8112706	0.81[ASN][1000 genomes]
rs856300	0.83[ASN][1000 genomes]
rs9304568	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs954504	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs958305	0.95[EUR][1000 genomes]
rs968073	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9749368	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9797618	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9941475	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2972430	ZNF571	cis	multi-tissue	Pritchard

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38166600-38182600	Weak transcription	Right Ventricle	heart
2	chr19:38169800-38182200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:38170400-38182200	Weak transcription	Brain Substantia Nigra	brain
4	chr19:38170600-38182200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr19:38170800-38182200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr19:38171400-38182200	Weak transcription	Brain Angular Gyrus	brain
7	chr19:38172800-38182200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr19:38173600-38182800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr19:38173800-38182200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr19:38173800-38182200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr19:38174600-38182200	Weak transcription	Colon Smooth Muscle	Colon
12	chr19:38175000-38182400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr19:38175200-38182400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr19:38175800-38182200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr19:38176400-38182200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr19:38176400-38182400	Weak transcription	Aorta	Aorta
17	chr19:38176800-38182200	Weak transcription	Fetal Lung	lung
18	chr19:38177400-38182200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr19:38177400-38182200	Weak transcription	HepG2	liver
20	chr19:38177600-38182200	Weak transcription	Psoas Muscle	Psoas
21	chr19:38177600-38182600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr19:38177600-38182800	Weak transcription	Gastric	stomach
23	chr19:38177800-38182200	Weak transcription	Adipose Nuclei	Adipose
24	chr19:38177800-38182200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr19:38177800-38182400	Weak transcription	Primary T cells from cord blood	blood
26	chr19:38178000-38182400	Weak transcription	Ovary	ovary
27	chr19:38178200-38182200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr19:38178200-38182200	Weak transcription	Brain Anterior Caudate	brain
29	chr19:38178600-38182200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr19:38179000-38182200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr19:38179000-38182400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr19:38179400-38182400	Weak transcription	Fetal Muscle Leg	muscle
33	chr19:38180000-38182200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr19:38180000-38182200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr19:38180800-38182200	Weak transcription	Brain Hippocampus Middle	brain
36	chr19:38180800-38182200	Weak transcription	Fetal Stomach	stomach
37	chr19:38180800-38182600	Weak transcription	Left Ventricle	heart
38	chr19:38180800-38182800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:38181200-38183600	Active TSS	Brain Germinal Matrix	brain
40	chr19:38181600-38182200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr19:38182000-38182200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:38182000-38182200	Enhancers	Fetal Brain Male	brain
43	chr19:38182000-38182200	Active TSS	Fetal Brain Female	brain
44	chr19:38182000-38182200	Enhancers	Dnd41	blood
45	chr19:38182000-38183600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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