Variant report

Variant	rs72493341
Chromosome Location	chr2:11957270-11957271
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10495584	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1370547	0.81[EUR][1000 genomes]
rs56658728	0.81[ASN][1000 genomes]
rs57450916	1.00[EUR][1000 genomes]
rs59217232	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59466442	0.81[EUR][1000 genomes]
rs60665865	0.81[EUR][1000 genomes]
rs73189038	0.83[EUR][1000 genomes]
rs73189040	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73189043	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73189045	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11916800-11961200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:11919400-11961800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:11919600-11968400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:11919800-11957600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:11919800-11957800	Strong transcription	Primary T cells from cord blood	blood
6	chr2:11919800-11959200	Strong transcription	Liver	Liver
7	chr2:11919800-11960400	Weak transcription	Stomach Mucosa	stomach
8	chr2:11919800-11963200	Strong transcription	Primary B cells from peripheral blood	blood
9	chr2:11919800-11967600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:11919800-11968400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:11919800-11968800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:11925200-11964800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:11925200-11968600	Strong transcription	NHLF	lung
14	chr2:11925800-11968600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr2:11932400-11959600	Weak transcription	Fetal Kidney	kidney
16	chr2:11936800-11957600	Strong transcription	Adipose Nuclei	Adipose
17	chr2:11936800-11958000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:11937000-11968800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:11937600-11957600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:11941200-11968600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:11942000-11958200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:11942600-11957600	Strong transcription	Fetal Stomach	stomach
23	chr2:11942800-11960400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:11943000-11962800	Strong transcription	NHEK	skin
25	chr2:11944800-11965400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr2:11946200-11969200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:11946600-11961800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:11948000-11961800	Weak transcription	GM12878-XiMat	blood
29	chr2:11948400-11960200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:11948600-11958800	Weak transcription	HSMM	muscle
31	chr2:11949600-11958200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:11949600-11958400	Strong transcription	Ovary	ovary
33	chr2:11949800-11958400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:11950000-11957600	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr2:11950200-11957800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:11950200-11967200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:11950200-11968400	Strong transcription	Primary hematopoietic stem cells	blood
38	chr2:11950400-11957800	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr2:11951200-11957600	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr2:11951600-11958400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:11951600-11962800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:11951600-11968600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:11951800-11957800	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:11951800-11964400	Weak transcription	Fetal Heart	heart
45	chr2:11952400-11957400	Strong transcription	Left Ventricle	heart
46	chr2:11952400-11958200	Strong transcription	Fetal Intestine Small	intestine
47	chr2:11954000-11957600	Strong transcription	Brain Anterior Caudate	brain
48	chr2:11954200-11958600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr2:11954400-11957800	Strong transcription	Brain Substantia Nigra	brain
50	chr2:11954600-11957400	Strong transcription	HSMMtube	muscle

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