Variant report

Variant	rs56778436
Chromosome Location	chr13:39939437-39939438
allele	A/G
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]
rs1927203	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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39936600-39941000	Enhancers	NHDF-Ad	bronchial
2	chr13:39936800-39939600	Enhancers	Brain Cingulate Gyrus	brain
3	chr13:39936800-39939600	Enhancers	Brain Substantia Nigra	brain
4	chr13:39936800-39939800	Enhancers	Fetal Lung	lung
5	chr13:39937200-39945400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:39938200-39939800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:39938200-39940000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:39938400-39940000	Enhancers	Right Ventricle	heart
9	chr13:39938400-39940200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:39938400-39940200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr13:39938400-39940200	Enhancers	HSMMtube	muscle
12	chr13:39938600-39939600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:39938800-39939600	Enhancers	Brain Hippocampus Middle	brain
14	chr13:39938800-39939600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr13:39938800-39939800	Enhancers	Rectal Smooth Muscle	rectum
16	chr13:39938800-39939800	Enhancers	NHEK	skin
17	chr13:39938800-39940000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:39938800-39940200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr13:39938800-39940200	Enhancers	Fetal Heart	heart
20	chr13:39938800-39944200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr13:39938800-39944600	Weak transcription	Brain Anterior Caudate	brain
22	chr13:39939000-39939600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr13:39939000-39939600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr13:39939000-39939600	Enhancers	Colon Smooth Muscle	Colon
25	chr13:39939000-39939600	Enhancers	Fetal Stomach	stomach
26	chr13:39939000-39939600	Enhancers	Right Atrium	heart
27	chr13:39939000-39939600	Enhancers	HSMM	muscle
28	chr13:39939000-39939800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr13:39939000-39940000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr13:39939000-39940000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr13:39939000-39940000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr13:39939000-39940000	Enhancers	Fetal Muscle Leg	muscle
33	chr13:39939000-39940000	Flanking Active TSS	HMEC	breast
34	chr13:39939000-39940200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:39939000-39940200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr13:39939000-39940200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr13:39939000-39940400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr13:39939000-39940600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr13:39939000-39940600	Enhancers	Osteobl	bone
40	chr13:39939200-39939600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr13:39939200-39939600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr13:39939200-39939600	Enhancers	Left Ventricle	heart
43	chr13:39939200-39939800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr13:39939200-39939800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr13:39939200-39939800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr13:39939200-39939800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr13:39939200-39939800	Flanking Active TSS	Fetal Kidney	kidney
48	chr13:39939200-39940200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr13:39939400-39939600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
50	chr13:39939400-39939800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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