Variant report

Variant	rs9521725
Chromosome Location	chr13:111024974-111024975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11617097	0.83[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11619057	1.00[JPT][hapmap]
rs11619822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12867262	1.00[JPT][hapmap]
rs12877336	1.00[CHB][hapmap]
rs72655777	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7318486	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7328770	1.00[JPT][hapmap];0.85[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	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9521725	ING1	cis	parietal	SCAN
rs9521725	EFNB2	cis	cerebellum	SCAN

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111002400-111026000	Weak transcription	Psoas Muscle	Psoas
2	chr13:111007600-111030600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:111007600-111031000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr13:111007600-111031400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr13:111009000-111029400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr13:111011000-111032000	Weak transcription	Gastric	stomach
7	chr13:111011000-111032400	Weak transcription	NHEK	skin
8	chr13:111011200-111029800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr13:111014200-111027400	Weak transcription	Spleen	Spleen
10	chr13:111014400-111025800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr13:111014400-111029000	Weak transcription	HSMM	muscle
12	chr13:111014800-111029600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:111015600-111036600	Weak transcription	Fetal Intestine Small	intestine
14	chr13:111018400-111025800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr13:111019600-111034000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:111021800-111026000	Enhancers	HUVEC	blood vessel
17	chr13:111021800-111033400	Enhancers	Fetal Heart	heart
18	chr13:111022600-111027200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:111022800-111032600	Enhancers	Colon Smooth Muscle	Colon
20	chr13:111023000-111025200	Enhancers	Osteobl	bone
21	chr13:111023000-111025400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr13:111023000-111026400	Enhancers	NH-A	brain
23	chr13:111023000-111033200	Enhancers	Rectal Smooth Muscle	rectum
24	chr13:111023200-111025000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr13:111023200-111025400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr13:111023400-111025200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:111023600-111025400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:111023600-111027400	Enhancers	Stomach Smooth Muscle	stomach
29	chr13:111023800-111031600	Enhancers	Adipose Nuclei	Adipose
30	chr13:111024000-111025000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr13:111024000-111025000	Enhancers	GM12878-XiMat	blood
32	chr13:111024000-111025200	Enhancers	Brain Hippocampus Middle	brain
33	chr13:111024000-111025400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr13:111024000-111025400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr13:111024000-111025400	Enhancers	HMEC	breast
36	chr13:111024000-111026200	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr13:111024200-111025000	Enhancers	Brain Substantia Nigra	brain
38	chr13:111024400-111025000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr13:111024400-111025000	Enhancers	NHLF	lung
40	chr13:111024400-111025800	Weak transcription	Right Ventricle	heart
41	chr13:111024400-111026800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr13:111024400-111027800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr13:111024400-111031200	Weak transcription	Fetal Stomach	stomach
44	chr13:111024400-111032200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:111024400-111040200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr13:111024600-111025800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr13:111024600-111025800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr13:111024600-111025800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr13:111024600-111025800	Weak transcription	Aorta	Aorta
50	chr13:111024600-111026000	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links