Variant report

Variant	rs1853324
Chromosome Location	chr13:50005780-50005781
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1543514	0.93[EUR][1000 genomes]
rs2057413	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2407692	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3764090	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3764091	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4142285	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6561525	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7321228	0.85[EUR][1000 genomes]
rs7321670	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7328782	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7330512	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7982297	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7982598	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7992603	0.91[EUR][1000 genomes]
rs7996852	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7998022	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7998660	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9316453	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9526564	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9535243	0.87[EUR][1000 genomes]
rs959421	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv430558	chr13:49914393-50059354	Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv430559	chr13:49930369-50059354	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv430560	chr13:49930643-50059354	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv430562	chr13:49930643-50067246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv430561	chr13:49930643-50089844	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv430564	chr13:49945247-50059354	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv430566	chr13:49945247-50089844	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv430571	chr13:49961137-50059354	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv430570	chr13:49961137-50089844	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv1807924	chr13:49991885-50036730	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv1796315	chr13:49992988-50031868	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	nsv523648	chr13:50005444-50086266	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1853324	PHF11	Cis_1M	lymphoblastoid	RTeQTL
rs1853324	SETDB2	cis	Nerve Tibial	GTEx

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49975800-50013600	Weak transcription	Primary B cells from cord blood	blood
2	chr13:49978400-50016800	Weak transcription	Fetal Brain Male	brain
3	chr13:49980400-50006400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr13:49983400-50017000	Weak transcription	Brain Anterior Caudate	brain
5	chr13:49983400-50017400	Weak transcription	Lung	lung
6	chr13:49983600-50017000	Weak transcription	Brain Angular Gyrus	brain
7	chr13:49984400-50010200	Weak transcription	Brain Substantia Nigra	brain
8	chr13:49989200-50006800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:49993800-50017400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:49994000-50010000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:49994000-50010000	Weak transcription	Osteobl	bone
12	chr13:49994000-50016200	Weak transcription	NHLF	lung
13	chr13:49994000-50017000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr13:49994000-50017200	Weak transcription	HSMM	muscle
15	chr13:49994200-50010000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr13:49994200-50010200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr13:49994200-50017200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr13:49994600-50016000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:49994800-50017200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr13:49995400-50017000	Weak transcription	Liver	Liver
21	chr13:49995600-50017000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr13:49995800-50007000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr13:49995800-50017000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr13:49996400-50010200	Weak transcription	Brain Hippocampus Middle	brain
25	chr13:49996800-50006600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr13:49997000-50017000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr13:49997000-50017200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr13:49997400-50017200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr13:49998400-50007200	Weak transcription	NHDF-Ad	bronchial
30	chr13:49998600-50017000	Weak transcription	Adipose Nuclei	Adipose
31	chr13:49999000-50017400	Weak transcription	Small Intestine	intestine
32	chr13:50000000-50013400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr13:50000200-50010800	Weak transcription	Colon Smooth Muscle	Colon
34	chr13:50000200-50017200	Weak transcription	Fetal Intestine Small	intestine
35	chr13:50000400-50017000	Weak transcription	Fetal Lung	lung
36	chr13:50000600-50006400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr13:50000600-50011000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr13:50000600-50017400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr13:50000800-50006400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr13:50001200-50008800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr13:50002400-50006800	Weak transcription	Esophagus	oesophagus
42	chr13:50002600-50006200	Weak transcription	Fetal Brain Female	brain
43	chr13:50002600-50006400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr13:50002600-50017000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr13:50002600-50017000	Weak transcription	HSMMtube	muscle
46	chr13:50002800-50006200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr13:50002800-50006200	Weak transcription	Left Ventricle	heart
48	chr13:50002800-50017000	Weak transcription	Primary T cells from cord blood	blood
49	chr13:50002800-50017000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr13:50002800-50017200	Weak transcription	Fetal Muscle Leg	muscle

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