Variant report

Variant	rs111542246
Chromosome Location	chr13:49945326-49945327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49938960..49941756-chr13:49943750..49946277,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	nsv430564	chr13:49945247-50059354	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv430566	chr13:49945247-50089844	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49889000-49947600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr13:49912600-49948800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:49922400-49946600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:49922400-49947800	Weak transcription	Right Ventricle	heart
5	chr13:49922800-49951400	Weak transcription	Gastric	stomach
6	chr13:49923200-49951200	Weak transcription	Pancreas	Pancrea
7	chr13:49929400-49950000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr13:49934200-49957400	Weak transcription	Left Ventricle	heart
9	chr13:49938600-49961000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:49941600-49946200	Weak transcription	HSMMtube	muscle
11	chr13:49942600-49946000	Weak transcription	NH-A	brain
12	chr13:49942600-49946200	Weak transcription	Fetal Lung	lung
13	chr13:49942600-49946400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:49942600-49947600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:49942600-49947800	Weak transcription	NHDF-Ad	bronchial
16	chr13:49942800-49945800	Weak transcription	Primary B cells from cord blood	blood
17	chr13:49942800-49946000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr13:49942800-49946600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr13:49942800-49947800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr13:49942800-49948000	Weak transcription	NHLF	lung
21	chr13:49942800-49952800	Weak transcription	Aorta	Aorta
22	chr13:49943000-49946200	Weak transcription	Osteobl	bone
23	chr13:49943000-49946400	Weak transcription	Placenta	Placenta
24	chr13:49943000-49947000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr13:49943000-49947800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:49943000-49947800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr13:49943000-49947800	Weak transcription	Ovary	ovary
28	chr13:49943000-49948000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr13:49943600-49945400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr13:49944400-49951400	Enhancers	Fetal Heart	heart
31	chr13:49944600-49945400	Enhancers	Rectal Smooth Muscle	rectum
32	chr13:49944800-49945800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr13:49944800-49946200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr13:49945000-49945400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr13:49945000-49946000	Weak transcription	Adipose Nuclei	Adipose
36	chr13:49945000-49946000	Weak transcription	Brain Hippocampus Middle	brain
37	chr13:49945000-49946000	Weak transcription	Colon Smooth Muscle	Colon
38	chr13:49945000-49946000	Weak transcription	Stomach Mucosa	stomach
39	chr13:49945000-49947400	Weak transcription	Brain Angular Gyrus	brain
40	chr13:49945000-49947600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr13:49945000-49948000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr13:49945000-49948800	Weak transcription	Brain Anterior Caudate	brain
43	chr13:49945000-49952000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr13:49945200-49946200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr13:49945200-49946200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr13:49945200-49948800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr13:49945200-49949000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr13:49945200-49950200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr13:49945200-49973000	Weak transcription	Brain Substantia Nigra	brain

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