Variant report

Variant	rs7990940
Chromosome Location	chr13:49943607-49943608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs4942818	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7326978	0.91[ASN][1000 genomes]
rs7981156	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7984177	0.99[ASN][1000 genomes]
rs9535203	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568188	0.90[ASN][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	nsv900069	chr13:49815405-49976393	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv430558	chr13:49914393-50059354	Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv430559	chr13:49930369-50059354	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv430560	chr13:49930643-50059354	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv430562	chr13:49930643-50067246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv430561	chr13:49930643-50089844	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49889000-49944600	Weak transcription	Brain Angular Gyrus	brain
2	chr13:49889000-49947600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr13:49889200-49944600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr13:49912600-49948800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:49922400-49946600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:49922400-49947800	Weak transcription	Right Ventricle	heart
7	chr13:49922800-49951400	Weak transcription	Gastric	stomach
8	chr13:49923200-49951200	Weak transcription	Pancreas	Pancrea
9	chr13:49929400-49950000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:49932200-49944600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:49934200-49957400	Weak transcription	Left Ventricle	heart
12	chr13:49938600-49961000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:49941600-49944400	Weak transcription	Brain Anterior Caudate	brain
14	chr13:49941600-49946200	Weak transcription	HSMMtube	muscle
15	chr13:49942600-49944400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:49942600-49944400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr13:49942600-49944400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr13:49942600-49944600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr13:49942600-49944600	Weak transcription	Adipose Nuclei	Adipose
20	chr13:49942600-49946000	Weak transcription	NH-A	brain
21	chr13:49942600-49946200	Weak transcription	Fetal Lung	lung
22	chr13:49942600-49946400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:49942600-49947600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:49942600-49947800	Weak transcription	NHDF-Ad	bronchial
25	chr13:49942800-49944600	Weak transcription	Brain Hippocampus Middle	brain
26	chr13:49942800-49945800	Weak transcription	Primary B cells from cord blood	blood
27	chr13:49942800-49946000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr13:49942800-49946600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr13:49942800-49947800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr13:49942800-49948000	Weak transcription	NHLF	lung
31	chr13:49942800-49952800	Weak transcription	Aorta	Aorta
32	chr13:49943000-49944400	Weak transcription	Fetal Heart	heart
33	chr13:49943000-49944600	Weak transcription	Colon Smooth Muscle	Colon
34	chr13:49943000-49946200	Weak transcription	Osteobl	bone
35	chr13:49943000-49946400	Weak transcription	Placenta	Placenta
36	chr13:49943000-49947000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr13:49943000-49947800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr13:49943000-49947800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr13:49943000-49947800	Weak transcription	Ovary	ovary
40	chr13:49943000-49948000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr13:49943200-49944600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr13:49943400-49944600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr13:49943600-49944600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr13:49943600-49944600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr13:49943600-49945000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr13:49943600-49945400	Weak transcription	Primary B cells from peripheral blood	blood

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