Variant report

Variant	rs2245243
Chromosome Location	chr13:51267603-51267604
allele	A/C
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]
rs2246135	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794461	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794462	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794463	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2812231	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2812232	0.98[AMR][1000 genomes];0.99[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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51254400-51267800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr13:51256200-51268400	Enhancers	Fetal Thymus	thymus
3	chr13:51259800-51268400	Weak transcription	Small Intestine	intestine
4	chr13:51260200-51268000	Weak transcription	HMEC	breast
5	chr13:51264600-51269400	Enhancers	Left Ventricle	heart
6	chr13:51264800-51267800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr13:51265000-51267800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:51265000-51268600	Enhancers	Brain Hippocampus Middle	brain
9	chr13:51265000-51268600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr13:51265200-51275600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr13:51265400-51267800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr13:51265400-51268600	Enhancers	HSMMtube	muscle
13	chr13:51265400-51269200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:51265600-51268600	Enhancers	NH-A	brain
15	chr13:51265600-51269000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr13:51265600-51269600	Enhancers	Fetal Heart	heart
17	chr13:51266000-51268000	Weak transcription	Brain Angular Gyrus	brain
18	chr13:51266000-51271800	Weak transcription	Primary T cells from cord blood	blood
19	chr13:51266000-51274600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr13:51266200-51268000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr13:51266200-51268600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr13:51266400-51267800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:51266400-51268000	Weak transcription	Colon Smooth Muscle	Colon
24	chr13:51266400-51271600	Weak transcription	Right Ventricle	heart
25	chr13:51266400-51272200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:51266600-51270600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:51266800-51267800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:51266800-51267800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr13:51266800-51268000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr13:51266800-51268400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr13:51266800-51268600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr13:51267000-51267800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr13:51267000-51268000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr13:51267000-51268600	Enhancers	HSMM	muscle
35	chr13:51267000-51269200	Enhancers	Fetal Muscle Leg	muscle
36	chr13:51267200-51268200	Enhancers	Right Atrium	heart
37	chr13:51267200-51268400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr13:51267200-51268400	Enhancers	Placenta	Placenta
39	chr13:51267200-51268600	Enhancers	Adipose Nuclei	Adipose
40	chr13:51267200-51268600	Enhancers	Brain Substantia Nigra	brain
41	chr13:51267200-51268600	Enhancers	Psoas Muscle	Psoas
42	chr13:51267200-51269000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr13:51267200-51269000	Enhancers	Fetal Intestine Small	intestine
44	chr13:51267200-51269400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr13:51267400-51268200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr13:51267400-51268200	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr13:51267400-51268600	Enhancers	Placenta Amnion	Placenta Amnion
48	chr13:51267400-51269200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr13:51267600-51267800	Enhancers	Brain Germinal Matrix	brain
50	chr13:51267600-51267800	Enhancers	Rectal Smooth Muscle	rectum

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