Variant report

Variant	rs10189926
Chromosome Location	chr2:30863651-30863652
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:30849068..30850871-chr2:30861808..30864267,2	K562	blood:
2	chr2:30859615..30861483-chr2:30862535..30865064,2	K562	blood:
3	chr2:30861456..30863963-chr2:30882703..30885860,4	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAPN13-1	chr2:30863313-30864109	ENSG00000248067

No data

(count:1 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	LCLAT1	hsa-miR-181a-5p	chr2:30863651-30863673

Variant related genes	Relation type
LCLAT1	miRNA target site

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10153933	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10180872	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10195537	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10201957	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10203381	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10207070	0.82[AMR][1000 genomes]
rs10207451	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10208152	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1026066	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11127283	0.89[EUR][1000 genomes]
rs12185696	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13429099	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13430761	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17323641	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17394450	0.85[AMR][1000 genomes]
rs1869427	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2363078	0.80[AMR][1000 genomes]
rs2885931	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62139626	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62139651	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62142162	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs722019	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30834600-30863800	Weak transcription	Aorta	Aorta
2	chr2:30835800-30871200	Weak transcription	Small Intestine	intestine
3	chr2:30841800-30872200	Weak transcription	Spleen	Spleen
4	chr2:30843400-30864800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:30845600-30877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:30845800-30877800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:30849000-30863800	Weak transcription	K562	blood
8	chr2:30850200-30874600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:30850400-30865000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:30850400-30869200	Weak transcription	Gastric	stomach
11	chr2:30850400-30874600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:30851400-30865000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:30851800-30865000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:30853200-30863800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:30853200-30867200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:30853200-30872000	Weak transcription	NHDF-Ad	bronchial
17	chr2:30854000-30867000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:30854200-30867600	Weak transcription	Psoas Muscle	Psoas
19	chr2:30854400-30865000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr2:30854400-30865200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr2:30854400-30866600	Weak transcription	GM12878-XiMat	blood
22	chr2:30854600-30864800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:30855000-30865000	Weak transcription	Fetal Intestine Small	intestine
24	chr2:30855000-30865400	Weak transcription	HSMM	muscle
25	chr2:30855400-30863800	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:30855600-30867200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:30856400-30866600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:30857000-30869000	Weak transcription	Hela-S3	cervix
29	chr2:30857600-30863800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:30858600-30865400	Strong transcription	Primary T cells from cord blood	blood
31	chr2:30859600-30872000	Weak transcription	Fetal Stomach	stomach
32	chr2:30859800-30863800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr2:30860200-30863800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr2:30860200-30865000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:30860200-30866200	Weak transcription	HUVEC	blood vessel
36	chr2:30860400-30863800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr2:30860400-30878200	Weak transcription	NHLF	lung
38	chr2:30861400-30863800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:30861400-30876800	Weak transcription	Fetal Heart	heart
40	chr2:30861600-30864200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:30861600-30864400	Strong transcription	Duodenum Mucosa	Duodenum
42	chr2:30861600-30864600	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr2:30861600-30864800	Strong transcription	Primary B cells from cord blood	blood
44	chr2:30861600-30864800	Weak transcription	NHEK	skin
45	chr2:30861600-30865200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:30861600-30872200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr2:30862000-30868600	Weak transcription	Brain Substantia Nigra	brain
48	chr2:30862200-30864600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr2:30862200-30865200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:30862400-30864800	Strong transcription	Primary T cells fromperipheralblood	blood

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