Variant report

Variant	rs782996
Chromosome Location	chr5:43152732-43152733
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43149407..43153525-chr5:43154850..43159311,5	K562	blood:
2	chr5:43145346..43147857-chr5:43150942..43153155,3	MCF-7	breast:
3	chr5:43119555..43121292-chr5:43149907..43152900,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1618891	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1624415	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1628981	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1690994	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1690997	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2453308	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs479996	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs499436	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs511340	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs512040	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs512921	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs521649	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs544402	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs555276	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs557076	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs567884	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs574051	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57689195	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs579337	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs579363	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61004923	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61121229	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6892422	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs782971	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs782972	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs782976	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs782977	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs782978	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs782984	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs782987	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs782989	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs782994	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs903391	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[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
rs782996	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43122600-43156200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:43122600-43163400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:43122800-43154600	Weak transcription	Aorta	Aorta
4	chr5:43122800-43156400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:43122800-43174200	Weak transcription	Colonic Mucosa	Colon
6	chr5:43124000-43153000	Weak transcription	Psoas Muscle	Psoas
7	chr5:43124000-43183000	Weak transcription	Small Intestine	intestine
8	chr5:43124400-43154600	Weak transcription	Fetal Heart	heart
9	chr5:43124400-43154800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:43126600-43154800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr5:43127600-43178000	Strong transcription	Dnd41	blood
12	chr5:43128000-43154600	Weak transcription	Brain Substantia Nigra	brain
13	chr5:43128200-43156000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:43128200-43161000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:43128400-43154600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:43128400-43161400	Weak transcription	HSMMtube	muscle
17	chr5:43128600-43154400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:43128600-43155400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:43129000-43161400	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:43130200-43156200	Weak transcription	Gastric	stomach
21	chr5:43131000-43159800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr5:43133000-43161400	Weak transcription	Esophagus	oesophagus
23	chr5:43133200-43161400	Weak transcription	Fetal Brain Male	brain
24	chr5:43134000-43154600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr5:43134600-43155000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:43135400-43156400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr5:43137200-43163400	Weak transcription	Fetal Kidney	kidney
28	chr5:43137800-43161000	Weak transcription	HSMM	muscle
29	chr5:43138200-43159000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr5:43140400-43154600	Weak transcription	Brain Angular Gyrus	brain
31	chr5:43140400-43155400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr5:43140600-43154600	Weak transcription	Brain Anterior Caudate	brain
33	chr5:43140800-43155200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:43140800-43155800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr5:43141200-43153400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr5:43141800-43154600	Weak transcription	Left Ventricle	heart
37	chr5:43141800-43161400	Weak transcription	HUVEC	blood vessel
38	chr5:43142200-43161400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:43143000-43161400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:43143400-43178200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:43143800-43155600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr5:43143800-43161400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr5:43143800-43161400	Weak transcription	NHEK	skin
44	chr5:43144000-43152800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr5:43144600-43159600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:43145200-43161400	Weak transcription	NH-A	brain
47	chr5:43145400-43155400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr5:43145400-43156200	Weak transcription	Adipose Nuclei	Adipose
49	chr5:43145400-43161400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr5:43145600-43156000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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