Variant report

Variant	rs13426251
Chromosome Location	chr2:54257981-54257982
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10084204	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10194987	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12329248	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13388199	0.81[AFR][1000 genomes]
rs13400912	1.00[AMR][1000 genomes]
rs13401566	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13401851	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13422211	0.83[AFR][1000 genomes]
rs13432266	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv963232	chr2:54249008-54261054	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54243800-54268000	Weak transcription	Osteobl	bone
2	chr2:54243800-54268400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:54243800-54269800	Weak transcription	Brain Anterior Caudate	brain
4	chr2:54246800-54275200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:54248600-54278000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:54248600-54289800	Weak transcription	Fetal Lung	lung
7	chr2:54248800-54275600	Weak transcription	Primary B cells from cord blood	blood
8	chr2:54251600-54263800	Weak transcription	Primary T cells from cord blood	blood
9	chr2:54252600-54258000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:54254600-54267400	Weak transcription	Brain Substantia Nigra	brain
11	chr2:54254600-54269800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:54254800-54269600	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:54256200-54258400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:54256600-54258200	Enhancers	Fetal Heart	heart
15	chr2:54256800-54258200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:54256800-54258200	Enhancers	Fetal Intestine Large	intestine
17	chr2:54256800-54258200	Enhancers	Fetal Intestine Small	intestine
18	chr2:54256800-54258200	Enhancers	Ovary	ovary
19	chr2:54256800-54258200	Enhancers	Psoas Muscle	Psoas
20	chr2:54256800-54258200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr2:54257000-54258200	Enhancers	Fetal Muscle Leg	muscle
22	chr2:54257000-54258200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr2:54257200-54258200	Enhancers	K562	blood
24	chr2:54257400-54258200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:54257600-54258200	Enhancers	Gastric	stomach
26	chr2:54257600-54258200	Enhancers	Left Ventricle	heart
27	chr2:54257600-54258200	Enhancers	Right Ventricle	heart
28	chr2:54257600-54258200	Enhancers	HepG2	liver
29	chr2:54257800-54258200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links