Variant report

Variant	rs60546811
Chromosome Location	chr13:49081198-49081199
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10162207	1.00[EUR][1000 genomes]
rs60646582	1.00[EUR][1000 genomes]
rs73490879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73495127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316400	1.00[EUR][1000 genomes]
rs9591164	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591168	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591179	1.00[EUR][1000 genomes]
rs9591181	1.00[EUR][1000 genomes]
rs9595892	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595915	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595923	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595925	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9805455	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49054000-49094000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:49063000-49087800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:49067000-49084200	Weak transcription	Ovary	ovary
4	chr13:49067200-49105200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr13:49067200-49105400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr13:49067800-49098000	Weak transcription	Right Ventricle	heart
7	chr13:49068000-49105600	Weak transcription	Gastric	stomach
8	chr13:49068200-49102600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr13:49071200-49105600	Weak transcription	Fetal Brain Male	brain
10	chr13:49071800-49086200	Strong transcription	Fetal Stomach	stomach
11	chr13:49071800-49105800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr13:49072000-49088400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr13:49072200-49085800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr13:49072200-49095600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr13:49073200-49085800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr13:49073600-49087800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:49073800-49081200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr13:49074800-49083000	Weak transcription	Fetal Intestine Small	intestine
19	chr13:49075400-49085800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr13:49075600-49093400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:49075600-49095200	Weak transcription	Fetal Intestine Large	intestine
22	chr13:49075800-49086000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:49075800-49088400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:49075800-49093200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr13:49076000-49083000	Weak transcription	Fetal Lung	lung
26	chr13:49076000-49084800	Weak transcription	Liver	Liver
27	chr13:49076000-49085800	Weak transcription	Fetal Kidney	kidney
28	chr13:49076600-49084800	Weak transcription	Brain Germinal Matrix	brain
29	chr13:49076600-49097400	Weak transcription	Pancreas	Pancrea
30	chr13:49077000-49085800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr13:49077600-49081600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr13:49077800-49081600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr13:49078000-49081600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr13:49078000-49084400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr13:49078200-49081400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr13:49078200-49081600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr13:49078200-49081600	Enhancers	Fetal Thymus	thymus
38	chr13:49078200-49083400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr13:49078600-49081600	Enhancers	Right Atrium	heart
40	chr13:49078600-49082000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr13:49078600-49082200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr13:49078600-49083000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:49078600-49083200	Enhancers	HMEC	breast
44	chr13:49078800-49081400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr13:49078800-49081400	Enhancers	Brain Hippocampus Middle	brain
46	chr13:49078800-49081400	Genic enhancers	Fetal Muscle Leg	muscle
47	chr13:49078800-49084600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr13:49079200-49081200	Flanking Active TSS	GM12878-XiMat	blood
49	chr13:49079400-49081200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr13:49079400-49081400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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