Variant report

Variant	rs2973886
Chromosome Location	chr5:126164342-126164343
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:41466280..41467855-chr5:126163623..126165123,2	MCF-7	breast:
2	chr5:126161556..126164449-chr5:126182643..126185474,2	K562	blood:
3	chr5:126162869..126166385-chr5:126166838..126169789,3	MCF-7	breast:
4	chr5:126156930..126159583-chr5:126163283..126166232,2	K562	blood:

Variant related genes	Relation type
ENSG00000188825	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10065951	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10478753	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1912570	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2136878	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2941661	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2941664	0.81[ASN][1000 genomes]
rs2941666	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2941673	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2973583	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2973587	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2973588	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2973589	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2973596	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2973600	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2973604	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2973887	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2973890	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4075655	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4267910	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62391702	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[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	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126130400-126165800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:126136000-126175200	Strong transcription	Dnd41	blood
3	chr5:126137600-126166600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:126139800-126175400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:126140000-126175200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:126140000-126175400	Strong transcription	Fetal Thymus	thymus
7	chr5:126141000-126177400	Weak transcription	Small Intestine	intestine
8	chr5:126141200-126181800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:126141400-126174200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:126141600-126167400	Weak transcription	Brain Substantia Nigra	brain
11	chr5:126144400-126173200	Weak transcription	Esophagus	oesophagus
12	chr5:126146000-126183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:126146000-126183600	Weak transcription	Left Ventricle	heart
14	chr5:126147600-126167600	Strong transcription	GM12878-XiMat	blood
15	chr5:126147800-126165600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr5:126147800-126170400	Weak transcription	Stomach Mucosa	stomach
17	chr5:126147800-126171600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:126148200-126182400	Weak transcription	HSMMtube	muscle
19	chr5:126148200-126193200	Weak transcription	Brain Angular Gyrus	brain
20	chr5:126149200-126170000	Weak transcription	Aorta	Aorta
21	chr5:126149600-126181400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr5:126151200-126175200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:126151200-126175400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:126151400-126181400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:126151600-126166600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr5:126151800-126175200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr5:126152000-126172400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:126152200-126171200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr5:126152200-126173800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:126152200-126175200	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr5:126152800-126167000	Weak transcription	Psoas Muscle	Psoas
32	chr5:126153400-126166600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr5:126153600-126175400	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr5:126154200-126166200	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr5:126154600-126165600	Strong transcription	Brain Germinal Matrix	brain
36	chr5:126155800-126171200	Strong transcription	K562	blood
37	chr5:126156000-126164400	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr5:126156000-126166200	Strong transcription	Primary hematopoietic stem cells	blood
39	chr5:126156400-126171800	Strong transcription	Fetal Brain Female	brain
40	chr5:126156600-126166000	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr5:126157200-126171000	Strong transcription	Primary T cells from cord blood	blood
42	chr5:126157400-126167800	Strong transcription	Hela-S3	cervix
43	chr5:126157600-126165400	Strong transcription	Primary B cells from cord blood	blood
44	chr5:126158000-126204600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:126158400-126165600	Strong transcription	HSMM	muscle
46	chr5:126159400-126171200	Strong transcription	HepG2	liver
47	chr5:126160000-126166000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr5:126160000-126171400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:126160200-126165400	Weak transcription	Brain Hippocampus Middle	brain
50	chr5:126160600-126166000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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