Variant report

Variant	rs74074079
Chromosome Location	chr13:49997082-49997083
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs59219721	1.00[EUR][1000 genomes]
rs60221549	1.00[EUR][1000 genomes]
rs73489321	1.00[EUR][1000 genomes]
rs73493222	1.00[EUR][1000 genomes]
rs73493244	1.00[EUR][1000 genomes]
rs73493248	1.00[EUR][1000 genomes]
rs74074078	1.00[AMR][1000 genomes]
rs74076056	1.00[EUR][1000 genomes]
rs74076057	1.00[EUR][1000 genomes]
rs74076058	1.00[EUR][1000 genomes]
rs74077944	1.00[EUR][1000 genomes]
rs7984323	1.00[EUR][1000 genomes]
rs7984679	1.00[EUR][1000 genomes]
rs7989903	1.00[EUR][1000 genomes]
rs7991144	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv430571	chr13:49961137-50059354	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv430570	chr13:49961137-50089844	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv1807924	chr13:49991885-50036730	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv1796315	chr13:49992988-50031868	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr13:49975600-50001000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:49975800-50001600	Weak transcription	Fetal Stomach	stomach
3	chr13:49975800-50013600	Weak transcription	Primary B cells from cord blood	blood
4	chr13:49978400-50005400	Weak transcription	Aorta	Aorta
5	chr13:49978400-50016800	Weak transcription	Fetal Brain Male	brain
6	chr13:49979800-49997200	Weak transcription	Left Ventricle	heart
7	chr13:49980400-50006400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr13:49983400-50017000	Weak transcription	Brain Anterior Caudate	brain
9	chr13:49983400-50017400	Weak transcription	Lung	lung
10	chr13:49983600-50017000	Weak transcription	Brain Angular Gyrus	brain
11	chr13:49984400-50001200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr13:49984400-50010200	Weak transcription	Brain Substantia Nigra	brain
13	chr13:49985000-50001200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr13:49986800-49998000	Weak transcription	Adipose Nuclei	Adipose
15	chr13:49989200-50006800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:49993800-50001600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:49993800-50017400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr13:49994000-49997400	Weak transcription	NHDF-Ad	bronchial
19	chr13:49994000-49999000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:49994000-50002000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:49994000-50010000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:49994000-50010000	Weak transcription	Osteobl	bone
23	chr13:49994000-50016200	Weak transcription	NHLF	lung
24	chr13:49994000-50017000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr13:49994000-50017200	Weak transcription	HSMM	muscle
26	chr13:49994200-49999800	Weak transcription	Fetal Brain Female	brain
27	chr13:49994200-50001000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr13:49994200-50001200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr13:49994200-50010000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr13:49994200-50010200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr13:49994200-50017200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr13:49994600-50002200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr13:49994600-50016000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:49994800-50001000	Weak transcription	HSMMtube	muscle
35	chr13:49994800-50002600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr13:49994800-50017200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr13:49995400-50017000	Weak transcription	Liver	Liver
38	chr13:49995600-50017000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr13:49995800-49998400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:49995800-50000800	Weak transcription	Brain Germinal Matrix	brain
41	chr13:49995800-50001800	Weak transcription	Fetal Muscle Leg	muscle
42	chr13:49995800-50007000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr13:49995800-50017000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr13:49996000-50002400	Weak transcription	Ovary	ovary
45	chr13:49996400-50010200	Weak transcription	Brain Hippocampus Middle	brain
46	chr13:49996600-50002000	Weak transcription	Primary T cells from cord blood	blood
47	chr13:49996800-50006600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr13:49997000-50017000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr13:49997000-50017200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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