Variant report

Variant	rs10913112
Chromosome Location	chr1:175913828-175913829
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10436856	0.84[EUR][1000 genomes]
rs10494498	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10753112	1.00[GIH][hapmap];0.83[TSI][hapmap]
rs10753117	0.97[GIH][hapmap];0.85[TSI][hapmap]
rs10798422	0.83[EUR][1000 genomes]
rs10798425	1.00[GIH][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap]
rs10913117	0.97[GIH][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap]
rs10913128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12023976	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12030638	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12033847	0.82[CEU][hapmap];0.97[GIH][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap]
rs12033976	0.85[EUR][1000 genomes]
rs12040241	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12047295	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs12404596	0.82[CEU][hapmap];0.97[GIH][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap]
rs17351562	0.83[EUR][1000 genomes]
rs17354120	0.97[GIH][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap]
rs35846379	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6673760	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs6678812	0.97[GIH][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap]
rs7517503	0.97[GIH][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap]

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	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10913112	RP11-318C24.2	cis	Whole Blood	GTEx
rs10913112	DARS2	cis	parietal	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175874400-175945600	Weak transcription	A549	lung
2	chr1:175880000-175937800	Weak transcription	HSMMtube	muscle
3	chr1:175881000-175924200	Weak transcription	Brain Angular Gyrus	brain
4	chr1:175886400-175929400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:175887800-175929800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:175889200-175937800	Weak transcription	Osteobl	bone
7	chr1:175892400-175940600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:175893200-175943000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:175897000-175953000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:175897600-175953200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:175897800-175952400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:175898600-175953200	Weak transcription	Pancreas	Pancrea
13	chr1:175899200-175953200	Weak transcription	Esophagus	oesophagus
14	chr1:175901600-175940600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:175901800-175925800	Weak transcription	HUVEC	blood vessel
16	chr1:175902400-175914800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:175902400-175917800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:175902800-175931800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:175903200-175924200	Weak transcription	Gastric	stomach
20	chr1:175903400-175951400	Weak transcription	K562	blood
21	chr1:175903600-175940800	Weak transcription	HMEC	breast
22	chr1:175903800-175915800	Weak transcription	GM12878-XiMat	blood
23	chr1:175904200-175956200	Weak transcription	Psoas Muscle	Psoas
24	chr1:175904600-175953000	Weak transcription	Right Ventricle	heart
25	chr1:175905000-175946800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr1:175905200-175916000	Weak transcription	NHDF-Ad	bronchial
27	chr1:175905400-175918800	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr1:175905600-175918800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:175906000-175914600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:175906000-175915000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:175906000-175915600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr1:175906000-175918200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:175906000-175930000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:175906200-175914800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:175906200-175917000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:175906200-175917600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:175906200-175919000	Weak transcription	Fetal Brain Male	brain
38	chr1:175906400-175914800	Weak transcription	HSMM	muscle
39	chr1:175906400-175920800	Weak transcription	HepG2	liver
40	chr1:175906400-175940600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:175906400-175944800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:175906400-175952400	Weak transcription	Spleen	Spleen
43	chr1:175906400-175962600	Weak transcription	NH-A	brain
44	chr1:175906600-175921200	Weak transcription	Fetal Stomach	stomach
45	chr1:175906800-175921000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:175906800-175952000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr1:175907400-175916600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:175907400-175921200	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr1:175907400-175950600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:175907800-175916400	Strong transcription	Adipose Nuclei	Adipose

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