Variant report

Variant	rs12429365
Chromosome Location	chr13:39971424-39971425
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10492739	0.80[CEU][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1175912	0.86[ASN][1000 genomes]
rs1185800	0.91[CEU][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs12428389	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1535776	0.86[JPT][hapmap]
rs17803327	0.81[ASN][1000 genomes]
rs516214	0.85[JPT][hapmap]
rs561008	0.91[CEU][hapmap];0.80[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs59279722	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs629011	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs629422	0.89[ASN][1000 genomes]
rs641027	0.90[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs73173498	0.89[ASN][1000 genomes]
rs73173499	0.92[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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1036674	chr13:39841482-40008117	Bivalent Enhancer Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv900008	chr13:39962791-40020267	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39960000-39979200	Weak transcription	NHDF-Ad	bronchial
2	chr13:39968200-39973200	Enhancers	Right Ventricle	heart
3	chr13:39968800-39972400	Enhancers	Fetal Lung	lung
4	chr13:39969200-39972800	Enhancers	Fetal Muscle Leg	muscle
5	chr13:39969400-39973200	Enhancers	Right Atrium	heart
6	chr13:39969400-39975400	Weak transcription	Brain Substantia Nigra	brain
7	chr13:39969800-39972800	Enhancers	Ovary	ovary
8	chr13:39970000-39971600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:39970000-39971600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr13:39970000-39971800	Weak transcription	Aorta	Aorta
11	chr13:39970000-39975200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:39970000-39975600	Weak transcription	Fetal Brain Female	brain
13	chr13:39970000-39977200	Weak transcription	Brain Hippocampus Middle	brain
14	chr13:39970200-39972000	Weak transcription	Fetal Heart	heart
15	chr13:39970200-39975400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr13:39970200-39975600	Weak transcription	Fetal Brain Male	brain
17	chr13:39970200-39979600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr13:39970400-39971600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:39970400-39972000	Weak transcription	Placenta	Placenta
20	chr13:39970400-39974800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr13:39970400-39975400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr13:39970400-39975600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr13:39970400-39976600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr13:39971000-39971800	Enhancers	Fetal Kidney	kidney
25	chr13:39971000-39972200	Weak transcription	Lung	lung
26	chr13:39971200-39980200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:39971400-39971600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr13:39971400-39971600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:39971400-39971600	Enhancers	Rectal Smooth Muscle	rectum
30	chr13:39971400-39971600	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr13:39971400-39973200	Enhancers	Adipose Nuclei	Adipose
32	chr13:39971400-39973200	Enhancers	Fetal Stomach	stomach
33	chr13:39971400-39973200	Enhancers	Left Ventricle	heart

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