Variant report

Variant	rs782972
Chromosome Location	chr5:43191495-43191496
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	REST	chr5:43190598-43191507	ECC-1	luminal epithelium:	n/a	chr5:43191039-43191048 chr5:43191034-43191047 chr5:43191034-43191054 chr5:43191034-43191043
2	REST	chr5:43190581-43191601	ECC-1	luminal epithelium:	n/a	chr5:43191039-43191048 chr5:43191034-43191047 chr5:43191034-43191054 chr5:43191034-43191043
3	REST	chr5:43190550-43191744	HL-60	blood:	n/a	chr5:43191039-43191048 chr5:43191034-43191047 chr5:43191034-43191054 chr5:43191034-43191043

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43191118..43192645-chr5:43192728..43194544,2	K562	blood:

Variant related genes	Relation type
NIM1K	TF binding region
ENSG00000177453	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12518336	0.81[EUR][1000 genomes]
rs1618891	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1624415	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1628981	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1690994	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1690997	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2453308	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs479996	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs499436	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs511340	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs512040	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs512921	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs521649	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs544402	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs555276	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs557076	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs567884	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs574051	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57689195	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs579337	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs579363	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61004923	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61121229	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6892422	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs782971	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs782976	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs782977	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs782978	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs782984	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs782987	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs782989	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs782994	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs782996	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs903391	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs782972	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43162000-43191600	Weak transcription	Fetal Brain Male	brain
2	chr5:43163800-43191800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:43175000-43191800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr5:43175200-43191600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:43175200-43191800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:43175200-43192000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:43175400-43191600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr5:43175400-43191800	Weak transcription	Left Ventricle	heart
9	chr5:43175400-43191800	Weak transcription	Pancreas	Pancrea
10	chr5:43175400-43191800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:43175400-43192200	Weak transcription	HSMM	muscle
12	chr5:43175800-43191600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr5:43176000-43191800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:43176800-43192200	Weak transcription	HSMMtube	muscle
15	chr5:43177800-43191600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr5:43178000-43191600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:43178000-43191800	Weak transcription	Esophagus	oesophagus
18	chr5:43178000-43193200	Weak transcription	Hela-S3	cervix
19	chr5:43178200-43191800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:43178200-43191800	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:43178400-43191800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:43180800-43191600	Weak transcription	Adipose Nuclei	Adipose
23	chr5:43181200-43191600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:43181400-43191800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr5:43181800-43191800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:43187000-43191800	Weak transcription	Placenta	Placenta
27	chr5:43190200-43193200	Enhancers	Fetal Heart	heart
28	chr5:43190600-43191600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr5:43190800-43191800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr5:43191000-43191600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:43191000-43191600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:43191000-43191600	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr5:43191000-43191600	Enhancers	HepG2	liver
34	chr5:43191000-43191800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:43191000-43191800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:43191000-43191800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr5:43191000-43191800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr5:43191000-43191800	Enhancers	NHLF	lung
39	chr5:43191000-43193800	Active TSS	Brain Cingulate Gyrus	brain
40	chr5:43191000-43194200	Active TSS	Brain Anterior Caudate	brain
41	chr5:43191200-43191600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
42	chr5:43191200-43191600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:43191200-43191600	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr5:43191200-43191600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr5:43191200-43191600	Weak transcription	Ovary	ovary
46	chr5:43191200-43191600	Enhancers	Rectal Smooth Muscle	rectum
47	chr5:43191200-43191600	Enhancers	GM12878-XiMat	blood
48	chr5:43191200-43191800	Enhancers	Liver	Liver
49	chr5:43191200-43191800	Enhancers	Colon Smooth Muscle	Colon
50	chr5:43191200-43192000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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