Variant report

Variant	rs74044039
Chromosome Location	chr13:39937047-39937048
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:8)

rs_ID	r²[population]
rs1323933	1.00[AMR][1000 genomes]
rs17059807	1.00[AMR][1000 genomes]
rs17059815	1.00[AMR][1000 genomes]
rs17059840	1.00[AMR][1000 genomes]
rs1927203	1.00[AMR][1000 genomes]
rs56778436	1.00[AMR][1000 genomes]
rs58506311	1.00[AMR][1000 genomes]
rs59636796	1.00[AMR][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	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	esv996813	chr13:39929705-39937070	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription	lncRNA	n/a	inside rSNPs	diseases
5	esv3506174	chr13:39932452-39937350	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	esv3497337	chr13:39933688-39937250	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv561534	chr13:39934518-39942791	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39925200-39938600	Weak transcription	Aorta	Aorta
2	chr13:39928400-39939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr13:39928400-39939000	Weak transcription	Right Atrium	heart
4	chr13:39928800-39938800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:39929200-39938800	Weak transcription	Fetal Heart	heart
6	chr13:39936000-39937800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:39936400-39937200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:39936400-39937400	Enhancers	Left Ventricle	heart
9	chr13:39936600-39941000	Enhancers	NHDF-Ad	bronchial
10	chr13:39936800-39937200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr13:39936800-39937400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:39936800-39937400	Enhancers	Lung	lung
13	chr13:39936800-39937400	Enhancers	Right Ventricle	heart
14	chr13:39936800-39937600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:39936800-39937800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:39936800-39939400	Enhancers	Ovary	ovary
17	chr13:39936800-39939600	Enhancers	Brain Cingulate Gyrus	brain
18	chr13:39936800-39939600	Enhancers	Brain Substantia Nigra	brain
19	chr13:39936800-39939800	Enhancers	Fetal Lung	lung
20	chr13:39937000-39937200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:39937000-39937200	Enhancers	NHLF	lung
22	chr13:39937000-39937400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:39937000-39937400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr13:39937000-39937400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr13:39937000-39937600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:39937000-39938000	Enhancers	Brain Hippocampus Middle	brain
27	chr13:39937000-39938200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr13:39937000-39938600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:39937000-39938800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr13:39937000-39938800	Weak transcription	NHEK	skin
31	chr13:39937000-39939400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links