Variant report

Variant	rs28605784
Chromosome Location	chr19:37976591-37976592
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF274	chr19:37975128-37976947	GM08714	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000267381	TF binding region

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1015848	0.91[EUR][1000 genomes]
rs1015849	0.91[EUR][1000 genomes]
rs1035479	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10403582	0.89[EUR][1000 genomes]
rs10404945	0.88[EUR][1000 genomes]
rs10405325	0.82[EUR][1000 genomes]
rs10406177	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10407084	0.87[EUR][1000 genomes]
rs10409204	0.89[EUR][1000 genomes]
rs10411574	0.91[EUR][1000 genomes]
rs10413602	0.84[EUR][1000 genomes]
rs10420430	0.84[EUR][1000 genomes]
rs10420722	0.94[EUR][1000 genomes]
rs10420754	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10422074	0.84[EUR][1000 genomes]
rs10422667	0.91[EUR][1000 genomes]
rs10426618	0.91[EUR][1000 genomes]
rs11083426	0.86[EUR][1000 genomes]
rs11671972	0.86[ASN][1000 genomes]
rs12972252	0.91[EUR][1000 genomes]
rs12979470	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12981532	0.84[EUR][1000 genomes]
rs13343471	0.89[EUR][1000 genomes]
rs13343502	0.93[EUR][1000 genomes]
rs1382357	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1559229	0.87[ASN][1000 genomes]
rs2045908	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2081096	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2112920	0.81[EUR][1000 genomes]
rs2112922	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2112923	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2126977	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2279148	0.85[EUR][1000 genomes]
rs2279149	0.85[EUR][1000 genomes]
rs2291004	0.90[EUR][1000 genomes]
rs2303131	0.89[EUR][1000 genomes]
rs28373708	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28538699	0.93[EUR][1000 genomes]
rs28623164	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2891699	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35540940	0.90[EUR][1000 genomes]
rs35777021	0.89[EUR][1000 genomes]
rs3745765	0.83[ASN][1000 genomes]
rs3760825	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3803895	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4452075	0.86[ASN][1000 genomes]
rs4801759	0.91[EUR][1000 genomes]
rs4801803	0.93[EUR][1000 genomes]
rs4802766	0.95[EUR][1000 genomes]
rs4802889	0.92[EUR][1000 genomes]
rs4803195	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4803229	0.86[ASN][1000 genomes]
rs4803460	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4803539	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59224125	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62110394	0.82[AMR][1000 genomes]
rs6508719	0.87[ASN][1000 genomes]
rs6508732	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6508733	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs713256	0.81[EUR][1000 genomes]
rs7246993	0.84[EUR][1000 genomes]
rs7247259	0.83[ASN][1000 genomes]
rs7248733	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7252099	0.89[EUR][1000 genomes]
rs7252325	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7252346	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7253091	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7253114	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7255407	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7255785	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7255952	0.95[EUR][1000 genomes]
rs7255972	0.89[EUR][1000 genomes]
rs7255996	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7256130	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73631095	0.93[EUR][1000 genomes]
rs8106839	0.94[EUR][1000 genomes]
rs8109038	0.87[EUR][1000 genomes]
rs8109632	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8112610	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9676739	0.93[EUR][1000 genomes]
rs9676967	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057688	chr19:37828019-37988253	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv833819	chr19:37899501-38051599	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1056753	chr19:37963714-38015943	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37961400-37980400	ZNF genes & repeats	Liver	Liver
2	chr19:37962200-37977800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:37962200-37977800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:37962400-37977600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr19:37962400-37979200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr19:37963200-37976600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
7	chr19:37963200-37981000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr19:37963800-37985600	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr19:37964200-37977600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
10	chr19:37966200-37979200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr19:37966200-37984000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr19:37966400-37976800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr19:37966600-37977800	ZNF genes & repeats	Fetal Lung	lung
14	chr19:37966600-37977800	ZNF genes & repeats	Dnd41	blood
15	chr19:37966800-37977600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr19:37969400-37977400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr19:37969400-37978200	ZNF genes & repeats	Brain Hippocampus Middle	brain
18	chr19:37970200-37978000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr19:37970200-37979000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr19:37970800-37977800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
21	chr19:37971000-37976600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
22	chr19:37971000-37977000	ZNF genes & repeats	Left Ventricle	heart
23	chr19:37971000-37977000	ZNF genes & repeats	Ovary	ovary
24	chr19:37971000-37977200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:37971000-37977800	ZNF genes & repeats	Brain Germinal Matrix	brain
26	chr19:37971000-37979200	ZNF genes & repeats	Fetal Brain Female	brain
27	chr19:37971200-37976600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
28	chr19:37971600-37976600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
29	chr19:37971600-37977000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
30	chr19:37971600-37977800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
31	chr19:37971600-37977800	ZNF genes & repeats	Psoas Muscle	Psoas
32	chr19:37971600-37978000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr19:37971600-37978000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:37971600-37980600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
35	chr19:37972200-37976600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr19:37972400-37976800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
37	chr19:37972400-37977400	ZNF genes & repeats	A549	lung
38	chr19:37972400-37977600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
39	chr19:37972400-37977800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:37972400-37977800	ZNF genes & repeats	Brain Substantia Nigra	brain
41	chr19:37972400-37977800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
42	chr19:37972400-37978200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
43	chr19:37972600-37977200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr19:37972600-37977600	ZNF genes & repeats	Fetal Brain Male	brain
45	chr19:37972600-37979000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
46	chr19:37972800-37977600	ZNF genes & repeats	Colon Smooth Muscle	Colon
47	chr19:37973000-37977400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
48	chr19:37974800-37977000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr19:37975200-37977000	ZNF genes & repeats	Pancreas	Pancrea
50	chr19:37975200-37977000	ZNF genes & repeats	Right Ventricle	heart

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