Variant report

Variant	rs2075284
Chromosome Location	chr19:38189616-38189617
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10048511	0.81[ASN][1000 genomes]
rs10402671	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10403173	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10404031	0.84[EUR][1000 genomes]
rs10406379	0.83[EUR][1000 genomes]
rs10408619	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10409605	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10410588	0.84[EUR][1000 genomes]
rs10412510	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10412786	0.84[EUR][1000 genomes]
rs10417576	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10420268	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10420552	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10425795	0.84[EUR][1000 genomes]
rs11083432	0.94[EUR][1000 genomes]
rs11673023	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12459015	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1291	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12974225	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12979640	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13744	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1531549	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1564206	0.84[EUR][1000 genomes]
rs1564208	0.84[EUR][1000 genomes]
rs16958861	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16958863	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs171376	0.80[ASN][1000 genomes]
rs1974714	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1975937	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1975939	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2287229	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291002	0.84[EUR][1000 genomes]
rs241932	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs241950	0.83[ASN][1000 genomes]
rs28512414	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2909085	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2909088	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2909093	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2909098	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2909100	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2909102	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2909105	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2909109	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2927739	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2927740	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2927742	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2927746	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2927747	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2972430	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2972434	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2972437	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2972438	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2972439	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2972445	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2972446	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972447	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972448	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2972452	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2972458	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3095724	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3095726	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3101746	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3101747	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3112433	0.92[ASN][1000 genomes]
rs3112434	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35863684	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3829688	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4802024	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4802029	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4803215	0.84[EUR][1000 genomes]
rs4803231	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4803233	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4803262	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4803263	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4803276	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4803287	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56151076	0.97[ASN][1000 genomes]
rs56317671	0.87[EUR][1000 genomes]
rs62108337	0.85[EUR][1000 genomes]
rs6508736	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6508742	0.81[ASN][1000 genomes]
rs8100646	0.85[ASN][1000 genomes]
rs8103633	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8103647	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8110865	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8112706	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs856300	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs856304	0.83[ASN][1000 genomes]
rs9304568	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9304569	0.81[ASN][1000 genomes]
rs954504	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs958305	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs968073	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9749368	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9797618	0.84[EUR][1000 genomes]
rs9941475	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[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
rs2075284	ZNF571	cis	multi-tissue	Pritchard

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38183200-38208800	Weak transcription	Fetal Heart	heart
2	chr19:38183400-38190000	Weak transcription	Stomach Mucosa	stomach
3	chr19:38183600-38190000	Weak transcription	Small Intestine	intestine
4	chr19:38184200-38201200	Weak transcription	Colonic Mucosa	Colon
5	chr19:38184400-38208800	Weak transcription	HepG2	liver
6	chr19:38186400-38191200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr19:38186800-38189800	Strong transcription	Fetal Stomach	stomach
8	chr19:38186800-38191200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:38187000-38207800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:38187000-38208000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:38187200-38190800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr19:38187200-38191600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:38187400-38189800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr19:38187400-38190400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr19:38187400-38190600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr19:38187400-38190600	Strong transcription	Brain Inferior Temporal Lobe	brain
17	chr19:38187400-38190600	Strong transcription	Fetal Brain Female	brain
18	chr19:38187400-38190800	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr19:38187400-38190800	Strong transcription	Brain Angular Gyrus	brain
20	chr19:38187400-38190800	Strong transcription	Brain Germinal Matrix	brain
21	chr19:38187400-38190800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:38187400-38190800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr19:38187400-38190800	Strong transcription	Placenta Amnion	Placenta Amnion
24	chr19:38187400-38190800	ZNF genes & repeats	HSMM	muscle
25	chr19:38187400-38190800	ZNF genes & repeats	NHLF	lung
26	chr19:38187400-38191000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
27	chr19:38187400-38191000	Strong transcription	Brain Anterior Caudate	brain
28	chr19:38187400-38191000	Strong transcription	Stomach Smooth Muscle	stomach
29	chr19:38187400-38191200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:38187400-38191400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:38187400-38191400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr19:38187400-38191400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
33	chr19:38187400-38191400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
34	chr19:38187400-38191600	ZNF genes & repeats	Liver	Liver
35	chr19:38187400-38191600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
36	chr19:38187400-38191800	Strong transcription	Fetal Lung	lung
37	chr19:38187400-38192600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr19:38187400-38192600	Strong transcription	Left Ventricle	heart
39	chr19:38187400-38192800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr19:38187400-38192800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr19:38187400-38199000	ZNF genes & repeats	A549	lung
42	chr19:38187400-38205800	Strong transcription	Dnd41	blood
43	chr19:38187400-38208000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr19:38187600-38191200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr19:38187600-38191200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
46	chr19:38187600-38191600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
47	chr19:38187600-38191800	ZNF genes & repeats	Primary T cells from cord blood	blood
48	chr19:38187600-38192800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
49	chr19:38187800-38189800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr19:38187800-38190400	Strong transcription	Rectal Mucosa Donor 29	rectum

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