Variant report

Variant	rs1927203
Chromosome Location	chr13:39940843-39940844
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
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]
rs56778436	1.00[AMR][1000 genomes]
rs58506311	1.00[AMR][1000 genomes]
rs59636796	1.00[AMR][1000 genomes]
rs74044039	1.00[AMR][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	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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39936600-39941000	Enhancers	NHDF-Ad	bronchial
2	chr13:39937200-39945400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:39938800-39944200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr13:39938800-39944600	Weak transcription	Brain Anterior Caudate	brain
5	chr13:39939400-39941000	Enhancers	Adipose Nuclei	Adipose
6	chr13:39939400-39943600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr13:39939400-39944600	Weak transcription	Fetal Brain Female	brain
8	chr13:39939600-39943400	Weak transcription	Colon Smooth Muscle	Colon
9	chr13:39939600-39944200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr13:39939600-39944200	Weak transcription	Brain Hippocampus Middle	brain
11	chr13:39939600-39944200	Weak transcription	Brain Substantia Nigra	brain
12	chr13:39939600-39944200	Weak transcription	Left Ventricle	heart
13	chr13:39939600-39944600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr13:39939600-39959600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr13:39939800-39941000	Enhancers	Ovary	ovary
16	chr13:39939800-39944200	Weak transcription	NHEK	skin
17	chr13:39939800-39944400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr13:39939800-39944800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr13:39939800-39945000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr13:39939800-39959800	Weak transcription	Fetal Lung	lung
21	chr13:39940000-39941800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr13:39940000-39944200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr13:39940000-39944200	Weak transcription	Fetal Muscle Leg	muscle
24	chr13:39940000-39944400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr13:39940000-39944400	Weak transcription	Right Ventricle	heart
26	chr13:39940000-39944400	Weak transcription	HMEC	breast
27	chr13:39940000-39944600	Weak transcription	NHLF	lung
28	chr13:39940000-39944800	Weak transcription	Aorta	Aorta
29	chr13:39940200-39943000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr13:39940200-39943800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr13:39940200-39943800	Weak transcription	Fetal Heart	heart
32	chr13:39940200-39944600	Weak transcription	HSMMtube	muscle
33	chr13:39940200-39947400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr13:39940200-39953800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr13:39940600-39941000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr13:39940600-39942600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:39940600-39944400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr13:39940600-39953800	Weak transcription	Osteobl	bone
39	chr13:39940800-39941000	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr13:39940800-39941400	Enhancers	Right Atrium	heart

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