Variant report

Variant	rs73619431
Chromosome Location	chr13:111115232-111115233
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:4)

rs_ID	r²[population]
rs57000313	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73617520	1.00[AMR][1000 genomes]
rs73617587	1.00[AMR][1000 genomes]
rs73619404	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv2751128	chr13:111040798-111132490	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv901008	chr13:111089573-111126501	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv430604	chr13:111095999-111156999	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv832720	chr13:111100235-111295993	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv1039297	chr13:111101507-111138863	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv541923	chr13:111101507-111138863	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111078200-111136800	Weak transcription	Colonic Mucosa	Colon
2	chr13:111099000-111123400	Strong transcription	Fetal Muscle Trunk	muscle
3	chr13:111099800-111116400	Strong transcription	Fetal Muscle Leg	muscle
4	chr13:111100000-111120000	Weak transcription	Pancreas	Pancrea
5	chr13:111100400-111118200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr13:111101600-111130200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr13:111101800-111127800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr13:111102200-111122000	Strong transcription	Placenta	Placenta
9	chr13:111103800-111125600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:111105800-111138000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:111107600-111118000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:111107600-111130400	Weak transcription	Right Atrium	heart
13	chr13:111108200-111129200	Strong transcription	Right Ventricle	heart
14	chr13:111108200-111138400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr13:111108400-111126800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr13:111108600-111118600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr13:111108600-111127000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr13:111108600-111138200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:111108600-111149200	Strong transcription	Fetal Stomach	stomach
20	chr13:111108600-111150600	Weak transcription	NHDF-Ad	bronchial
21	chr13:111108800-111117200	Weak transcription	Fetal Brain Male	brain
22	chr13:111108800-111118000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr13:111108800-111118000	Weak transcription	Fetal Brain Female	brain
24	chr13:111108800-111118200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:111108800-111118600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr13:111108800-111118600	Weak transcription	Brain Substantia Nigra	brain
27	chr13:111108800-111118800	Weak transcription	Brain Hippocampus Middle	brain
28	chr13:111108800-111119800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr13:111108800-111119800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr13:111108800-111121800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr13:111108800-111123800	Weak transcription	Liver	Liver
32	chr13:111108800-111126800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr13:111108800-111126800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr13:111108800-111126800	Weak transcription	Fetal Heart	heart
35	chr13:111108800-111126800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr13:111108800-111127000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr13:111108800-111130200	Strong transcription	Stomach Smooth Muscle	stomach
38	chr13:111108800-111148800	Weak transcription	Brain Angular Gyrus	brain
39	chr13:111108800-111152200	Strong transcription	Fetal Intestine Small	intestine
40	chr13:111109000-111126800	Weak transcription	A549	lung
41	chr13:111109000-111129200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr13:111109000-111158800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr13:111109600-111116000	Strong transcription	NHEK	skin
44	chr13:111109600-111118400	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr13:111109600-111120600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:111109600-111131000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr13:111109600-111155800	Strong transcription	Fetal Intestine Large	intestine
48	chr13:111109600-111158800	Strong transcription	Ovary	ovary
49	chr13:111109800-111116200	Strong transcription	Left Ventricle	heart
50	chr13:111109800-111122600	Strong transcription	Skeletal Muscle Male	skeletal muscle

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