Variant report

Variant	rs1421845
Chromosome Location	chr5:115729919-115729920
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11952185	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11960662	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17139687	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1990876	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1990877	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1990878	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58757229	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66580310	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7701051	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7706480	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	esv2763489	chr5:115693166-115733327	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv522616	chr5:115725791-115744515	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1421845	COMMD10	cis	cerebellum	SCAN
rs1421845	FEM1C	cis	parietal	SCAN
rs1421845	TRIM36	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115697600-115748400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:115707600-115748400	Weak transcription	Fetal Intestine Large	intestine
3	chr5:115708600-115754000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:115711800-115730600	Weak transcription	Gastric	stomach
5	chr5:115714400-115730200	Weak transcription	Right Ventricle	heart
6	chr5:115718400-115737000	Weak transcription	Primary B cells from cord blood	blood
7	chr5:115718600-115748400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr5:115718800-115731000	Weak transcription	Spleen	Spleen
9	chr5:115719400-115734800	Weak transcription	Primary T cells from cord blood	blood
10	chr5:115723000-115776000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:115723400-115730200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:115723600-115784800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr5:115724800-115730200	Weak transcription	Esophagus	oesophagus
14	chr5:115724800-115730200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr5:115724800-115730200	Weak transcription	Left Ventricle	heart
16	chr5:115724800-115745600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:115724800-115749200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:115726200-115731600	Weak transcription	Aorta	Aorta
19	chr5:115728400-115730800	Weak transcription	Fetal Intestine Small	intestine
20	chr5:115729400-115733200	Enhancers	Psoas Muscle	Psoas
21	chr5:115729400-115733200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr5:115729400-115733200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr5:115729600-115730000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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