Variant report

Variant	rs2927742
Chromosome Location	chr19:38133618-38133619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:82)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38121800-38139200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:38121800-38140600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:38123400-38138800	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:38123600-38140000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr19:38123600-38140800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:38123600-38141400	ZNF genes & repeats	Liver	Liver
7	chr19:38124000-38134200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
8	chr19:38124400-38135000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr19:38124600-38140800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr19:38124600-38142000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:38124800-38134600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
12	chr19:38124800-38134800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:38124800-38136400	ZNF genes & repeats	Fetal Lung	lung
14	chr19:38124800-38143200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:38124800-38144400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:38125000-38135600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
17	chr19:38125000-38136800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
18	chr19:38125600-38143200	ZNF genes & repeats	A549	lung
19	chr19:38125800-38135000	ZNF genes & repeats	Primary T cells from cord blood	blood
20	chr19:38125800-38139600	ZNF genes & repeats	Colon Smooth Muscle	Colon
21	chr19:38125800-38140800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
22	chr19:38126000-38135200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
23	chr19:38126000-38135800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
24	chr19:38126000-38141400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr19:38126200-38143200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:38126400-38139400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
27	chr19:38127200-38144600	Weak transcription	Hela-S3	cervix
28	chr19:38129200-38138400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr19:38129200-38139600	Strong transcription	HSMM	muscle
30	chr19:38129600-38139000	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr19:38129800-38134000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:38130000-38141600	Strong transcription	Osteobl	bone
33	chr19:38130400-38134000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:38130400-38138400	Strong transcription	Brain Germinal Matrix	brain
35	chr19:38130400-38142200	ZNF genes & repeats	GM12878-XiMat	blood
36	chr19:38130600-38134800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr19:38130600-38138000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr19:38130600-38139800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:38131000-38139200	Strong transcription	Fetal Muscle Trunk	muscle
40	chr19:38131000-38141000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr19:38131200-38134000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr19:38131200-38136800	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr19:38131400-38134200	ZNF genes & repeats	Aorta	Aorta
44	chr19:38131600-38134000	Strong transcription	Primary B cells from cord blood	blood
45	chr19:38131600-38136600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
46	chr19:38131600-38137000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr19:38131600-38139200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr19:38131600-38141200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr19:38131800-38134200	ZNF genes & repeats	NHDF-Ad	bronchial
50	chr19:38131800-38138800	Strong transcription	Brain Anterior Caudate	brain

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