Variant report

Variant	rs7425826
Chromosome Location	chr2:153338538-153338539
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10166703	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10173398	0.95[ASN][1000 genomes]
rs10193625	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10195380	0.96[AFR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10432494	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11892232	0.96[ASN][1000 genomes]
rs11892859	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11893683	0.96[ASN][1000 genomes]
rs12614608	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12617686	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12623070	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2068886	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346204	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2881336	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4471845	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4613221	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6434078	0.82[ASN][1000 genomes]
rs6736639	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6737006	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7590079	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9288103	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	esv2754362	chr2:153297577-153366129	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv875292	chr2:153308471-153357383	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2830258	chr2:153318339-153349165	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153324800-153340000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:153326200-153339200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:153326200-153345800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:153329200-153340000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:153329600-153340000	Weak transcription	Ovary	ovary
6	chr2:153330200-153339400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:153330800-153342400	Weak transcription	Stomach Mucosa	stomach
8	chr2:153330800-153347400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:153333000-153342200	Weak transcription	Adipose Nuclei	Adipose
10	chr2:153334200-153340600	Weak transcription	HMEC	breast
11	chr2:153334400-153339000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:153334400-153339200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:153334400-153342400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:153334400-153353800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:153334600-153338800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:153334600-153339200	Weak transcription	Liver	Liver
17	chr2:153335800-153340600	Enhancers	Brain Substantia Nigra	brain
18	chr2:153335800-153341000	Enhancers	Brain Hippocampus Middle	brain
19	chr2:153336000-153347600	Weak transcription	Aorta	Aorta
20	chr2:153336600-153340600	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr2:153336600-153341600	Enhancers	Brain Cingulate Gyrus	brain
22	chr2:153336800-153338600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:153336800-153339400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:153337200-153339200	Enhancers	Fetal Lung	lung
25	chr2:153337200-153342400	Enhancers	Fetal Kidney	kidney
26	chr2:153337400-153339000	Enhancers	Colon Smooth Muscle	Colon
27	chr2:153337400-153340600	Enhancers	Brain Anterior Caudate	brain
28	chr2:153337600-153338600	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr2:153337600-153338600	Weak transcription	A549	lung
30	chr2:153337600-153338800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr2:153337600-153340000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:153337800-153338600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr2:153337800-153338600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr2:153337800-153338600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr2:153337800-153339400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:153337800-153341000	Enhancers	Fetal Stomach	stomach
37	chr2:153338000-153338600	Enhancers	Brain Angular Gyrus	brain
38	chr2:153338000-153338600	Enhancers	Fetal Muscle Leg	muscle
39	chr2:153338000-153338800	Flanking Active TSS	HepG2	liver
40	chr2:153338000-153339000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr2:153338000-153339200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:153338000-153339200	Enhancers	Psoas Muscle	Psoas
43	chr2:153338000-153340200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr2:153338200-153338600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr2:153338200-153338600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr2:153338200-153338600	Enhancers	NHEK	skin
47	chr2:153338200-153339000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:153338400-153338600	Flanking Active TSS	Colonic Mucosa	Colon
49	chr2:153338400-153338800	Enhancers	Fetal Intestine Large	intestine
50	chr2:153338400-153341400	Weak transcription	Rectal Mucosa Donor 31	rectum

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