Variant report

Variant	rs2794463
Chromosome Location	chr13:51269448-51269449
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs2245243	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2246135	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794461	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794462	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2812231	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2812232	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
2	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753864	chr13:51136699-51375199	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51265200-51275600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:51265600-51269600	Enhancers	Fetal Heart	heart
3	chr13:51266000-51271800	Weak transcription	Primary T cells from cord blood	blood
4	chr13:51266000-51274600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr13:51266400-51271600	Weak transcription	Right Ventricle	heart
6	chr13:51266400-51272200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr13:51266600-51270600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:51268200-51271400	Weak transcription	HUVEC	blood vessel
9	chr13:51268200-51271600	Weak transcription	Lung	lung
10	chr13:51268200-51272400	Weak transcription	Fetal Stomach	stomach
11	chr13:51268200-51272400	Weak transcription	Right Atrium	heart
12	chr13:51268200-51274800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr13:51268400-51270400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr13:51268400-51271600	Weak transcription	Brain Anterior Caudate	brain
15	chr13:51268400-51271600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr13:51268400-51272600	Weak transcription	Stomach Mucosa	stomach
17	chr13:51268400-51274200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr13:51268400-51277200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr13:51268600-51270200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr13:51268600-51270400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr13:51268600-51270600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr13:51268600-51270600	Weak transcription	Psoas Muscle	Psoas
23	chr13:51268600-51271200	Weak transcription	Brain Hippocampus Middle	brain
24	chr13:51268600-51271400	Weak transcription	Adipose Nuclei	Adipose
25	chr13:51268600-51271600	Weak transcription	Brain Substantia Nigra	brain
26	chr13:51268600-51271600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr13:51268600-51271800	Weak transcription	HMEC	breast
28	chr13:51268600-51272000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr13:51268600-51272000	Weak transcription	NH-A	brain
30	chr13:51268600-51272200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr13:51268600-51272200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr13:51268600-51272400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr13:51268600-51272400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr13:51268600-51272400	Weak transcription	Fetal Lung	lung
35	chr13:51268600-51272400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr13:51268600-51272400	Weak transcription	Osteobl	bone
37	chr13:51268600-51273600	Weak transcription	HSMM	muscle
38	chr13:51268600-51273800	Weak transcription	HSMMtube	muscle
39	chr13:51268600-51274200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr13:51268600-51274400	Weak transcription	NHDF-Ad	bronchial
41	chr13:51268800-51270800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr13:51268800-51273800	Weak transcription	Fetal Intestine Large	intestine
43	chr13:51268800-51274600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:51269000-51272000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr13:51269000-51272000	Weak transcription	Fetal Intestine Small	intestine
46	chr13:51269200-51270600	Weak transcription	Fetal Muscle Leg	muscle
47	chr13:51269200-51271800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr13:51269200-51272200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:51269400-51270600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr13:51269400-51270600	Weak transcription	Left Ventricle	heart

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