Variant report

Variant	rs58044536
Chromosome Location	chr11:72011227-72011228
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:72011106-72011239	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:72011062-72011230	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000255843	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12416804	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12418637	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12421674	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17162126	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2508201	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2508865	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3750906	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs474629	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs504217	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55721826	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56076328	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56171963	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57614093	0.81[EUR][1000 genomes]
rs58945323	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59612321	0.81[EUR][1000 genomes]
rs61036532	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680660	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73528886	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73530718	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73530724	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73530754	0.80[EUR][1000 genomes]
rs73530756	0.80[EUR][1000 genomes]
rs7940062	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv832206	chr11:72006573-72176017	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71995600-72028000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr11:71998000-72012200	Weak transcription	NH-A	brain
3	chr11:72000200-72013600	Weak transcription	HUVEC	blood vessel
4	chr11:72000400-72017200	Weak transcription	Fetal Brain Male	brain
5	chr11:72001000-72039800	Weak transcription	Psoas Muscle	Psoas
6	chr11:72001800-72019200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:72001800-72032600	Weak transcription	A549	lung
8	chr11:72002000-72025400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr11:72002200-72012400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:72002200-72025600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:72002600-72013000	Weak transcription	HMEC	breast
12	chr11:72002600-72024000	Weak transcription	Small Intestine	intestine
13	chr11:72002800-72011800	Weak transcription	Osteobl	bone
14	chr11:72002800-72012000	Weak transcription	Fetal Kidney	kidney
15	chr11:72002800-72025400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:72002800-72044600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr11:72003000-72014800	Strong transcription	Fetal Intestine Small	intestine
18	chr11:72003000-72017000	Strong transcription	Fetal Stomach	stomach
19	chr11:72003200-72013400	Strong transcription	Brain Substantia Nigra	brain
20	chr11:72003200-72013600	Strong transcription	Brain Cingulate Gyrus	brain
21	chr11:72003200-72013600	Strong transcription	Brain Hippocampus Middle	brain
22	chr11:72003200-72013800	Strong transcription	Fetal Brain Female	brain
23	chr11:72003200-72014800	Strong transcription	Stomach Smooth Muscle	stomach
24	chr11:72003200-72015000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:72003200-72015200	Strong transcription	Pancreas	Pancrea
26	chr11:72003200-72015400	Strong transcription	Fetal Muscle Leg	muscle
27	chr11:72003200-72016400	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:72003200-72017200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:72003200-72017400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr11:72003200-72019000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:72003200-72019600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:72003200-72019800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:72003200-72020000	Strong transcription	Placenta	Placenta
34	chr11:72003200-72020400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:72003200-72025800	Strong transcription	Primary T cells from cord blood	blood
36	chr11:72003200-72026800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:72003200-72028600	Strong transcription	Lung	lung
38	chr11:72003200-72029000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:72003200-72031200	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr11:72003200-72033600	Strong transcription	Dnd41	blood
41	chr11:72003200-72034200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:72003200-72034400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr11:72003200-72041800	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr11:72003200-72041800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr11:72003400-72013800	Strong transcription	Esophagus	oesophagus
46	chr11:72003400-72015000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:72003400-72016600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:72003400-72019400	Strong transcription	Liver	Liver
49	chr11:72003400-72019800	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr11:72003400-72019800	Strong transcription	Adipose Nuclei	Adipose

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