Variant report

Variant	rs1976786
Chromosome Location	chr1:224424473-224424474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224420004..224422036-chr1:224423649..224426323,3	K562	blood:

Variant related genes	Relation type
ENSG00000143748	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10799541	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10799545	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10916488	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12081432	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1807899	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34011742	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61826430	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[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	nsv873223	chr1:224367232-224467117	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1976786	RP11-365O16.3	cis	Skin Sun Exposed Lower leg	GTEx
rs1976786	FBXO28	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224401800-224427600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:224401800-224475400	Weak transcription	Esophagus	oesophagus
3	chr1:224407600-224434000	Weak transcription	Fetal Brain Male	brain
4	chr1:224411600-224438000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:224411600-224454400	Weak transcription	Psoas Muscle	Psoas
6	chr1:224412000-224433000	Weak transcription	Fetal Heart	heart
7	chr1:224412200-224424800	Weak transcription	Stomach Mucosa	stomach
8	chr1:224412400-224473600	Weak transcription	HepG2	liver
9	chr1:224413200-224432600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:224413800-224428000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:224413800-224428200	Strong transcription	Fetal Muscle Trunk	muscle
12	chr1:224414000-224432200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:224414200-224425000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:224414200-224425000	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:224414200-224426200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr1:224414200-224427800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:224414200-224427800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:224414200-224428800	Strong transcription	Fetal Intestine Large	intestine
19	chr1:224414200-224438000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:224414400-224428800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:224414600-224426200	Strong transcription	Fetal Intestine Small	intestine
22	chr1:224415000-224436200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:224415000-224440000	Weak transcription	Fetal Kidney	kidney
24	chr1:224415600-224426000	Weak transcription	Brain Substantia Nigra	brain
25	chr1:224415600-224426400	Strong transcription	Fetal Stomach	stomach
26	chr1:224415600-224432600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:224415600-224435000	Weak transcription	Gastric	stomach
28	chr1:224415800-224435600	Weak transcription	NHLF	lung
29	chr1:224415800-224435800	Weak transcription	Brain Angular Gyrus	brain
30	chr1:224416000-224426000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:224416000-224432800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr1:224416000-224436600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr1:224416000-224465600	Weak transcription	Small Intestine	intestine
34	chr1:224416200-224433000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:224417200-224427600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:224417200-224427600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:224417400-224425000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr1:224417400-224426400	Strong transcription	Dnd41	blood
39	chr1:224417400-224427600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:224417400-224427800	Strong transcription	Primary T cells from cord blood	blood
41	chr1:224417400-224427800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr1:224417600-224426800	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr1:224417800-224425400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:224417800-224435600	Weak transcription	Colonic Mucosa	Colon
45	chr1:224418000-224426000	Weak transcription	Brain Hippocampus Middle	brain
46	chr1:224418000-224435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:224418000-224436600	Weak transcription	Right Ventricle	heart
48	chr1:224418400-224439400	Weak transcription	HSMMtube	muscle
49	chr1:224418800-224425000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:224419000-224424600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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