Variant report

Variant	rs12141054
Chromosome Location	chr1:175942117-175942118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175936361..175937920-chr1:175941920..175943436,2	K562	blood:

Variant related genes	Relation type
ENSG00000252906	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10494497	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12119366	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12121832	0.85[AMR][1000 genomes]
rs12123116	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12125119	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12125192	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12127204	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12127719	0.85[AMR][1000 genomes]
rs12128099	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12128327	0.92[AMR][1000 genomes]
rs12129466	0.88[AMR][1000 genomes]
rs12129873	0.85[AMR][1000 genomes]
rs12130538	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12132072	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12133268	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12133701	0.92[AMR][1000 genomes]
rs12134392	0.85[AMR][1000 genomes]
rs12134984	0.85[AMR][1000 genomes]
rs12135045	0.85[AMR][1000 genomes]
rs12137136	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12139160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12140631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12142010	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12142461	0.85[AMR][1000 genomes]
rs12144692	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12144806	0.85[AMR][1000 genomes]
rs12145452	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12145778	0.85[AMR][1000 genomes]
rs1330863	0.85[AMR][1000 genomes]
rs16849475	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28770189	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4400573	0.85[AMR][1000 genomes]
rs56230548	0.92[AMR][1000 genomes]
rs7349083	1.00[AMR][1000 genomes];0.97[EUR][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	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

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175874400-175945600	Weak transcription	A549	lung
2	chr1:175893200-175943000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:175897000-175953000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:175897600-175953200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:175897800-175952400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:175898600-175953200	Weak transcription	Pancreas	Pancrea
7	chr1:175899200-175953200	Weak transcription	Esophagus	oesophagus
8	chr1:175903400-175951400	Weak transcription	K562	blood
9	chr1:175904200-175956200	Weak transcription	Psoas Muscle	Psoas
10	chr1:175904600-175953000	Weak transcription	Right Ventricle	heart
11	chr1:175905000-175946800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:175906400-175944800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:175906400-175952400	Weak transcription	Spleen	Spleen
14	chr1:175906400-175962600	Weak transcription	NH-A	brain
15	chr1:175906800-175952000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:175907400-175950600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:175907800-175945400	Weak transcription	Small Intestine	intestine
18	chr1:175907800-175945600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:175908000-175959400	Weak transcription	NHEK	skin
20	chr1:175909400-175948000	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:175909600-175942800	Weak transcription	Fetal Brain Female	brain
22	chr1:175911200-175947600	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:175911200-175950400	Weak transcription	Fetal Heart	heart
24	chr1:175916400-175952200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr1:175917600-175953000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:175919000-175947800	Weak transcription	Brain Germinal Matrix	brain
27	chr1:175921400-175951200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:175922000-175952000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:175924600-175953200	Weak transcription	Gastric	stomach
30	chr1:175924600-175953200	Weak transcription	HepG2	liver
31	chr1:175924800-175947600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:175925000-175951800	Weak transcription	Brain Anterior Caudate	brain
33	chr1:175927000-175951200	Weak transcription	Fetal Brain Male	brain
34	chr1:175930200-175947600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:175930400-175945400	Weak transcription	Aorta	Aorta
36	chr1:175930400-175947000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:175930400-175951800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:175930400-175952200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr1:175930600-175951400	Weak transcription	Fetal Kidney	kidney
40	chr1:175930800-175947600	Weak transcription	Fetal Stomach	stomach
41	chr1:175930800-175949600	Weak transcription	Ovary	ovary
42	chr1:175934200-175950400	Weak transcription	GM12878-XiMat	blood
43	chr1:175936400-175943400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:175936600-175946600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr1:175937400-175951400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr1:175937800-175946400	Weak transcription	NHLF	lung
47	chr1:175938000-175951800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:175938200-175947600	Weak transcription	Brain Substantia Nigra	brain
49	chr1:175938200-175951800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr1:175938400-175945600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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