Variant report

Variant	rs74072523
Chromosome Location	chr13:49933368-49933369
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56344326	1.00[AMR][1000 genomes]
rs58646564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60549375	1.00[AMR][1000 genomes]
rs60948185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61063436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072521	1.00[AMR][1000 genomes]
rs74072526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072536	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072537	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900069	chr13:49815405-49976393	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49876200-49935600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr13:49884600-49933600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr13:49885600-49933400	Weak transcription	Primary T cells from cord blood	blood
4	chr13:49889000-49944600	Weak transcription	Brain Angular Gyrus	brain
5	chr13:49889000-49947600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr13:49889200-49933400	Weak transcription	Brain Anterior Caudate	brain
7	chr13:49889200-49944600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr13:49895800-49935600	Weak transcription	Esophagus	oesophagus
9	chr13:49912600-49948800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr13:49915000-49941400	Weak transcription	Brain Hippocampus Middle	brain
11	chr13:49922200-49937600	Weak transcription	Fetal Brain Male	brain
12	chr13:49922200-49937600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr13:49922400-49940800	Weak transcription	Lung	lung
14	chr13:49922400-49946600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:49922400-49947800	Weak transcription	Right Ventricle	heart
16	chr13:49922800-49951400	Weak transcription	Gastric	stomach
17	chr13:49923000-49935000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr13:49923200-49934800	Weak transcription	Fetal Stomach	stomach
19	chr13:49923200-49935000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:49923200-49937800	Weak transcription	Primary B cells from cord blood	blood
21	chr13:49923200-49951200	Weak transcription	Pancreas	Pancrea
22	chr13:49926400-49934400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr13:49926400-49937600	Weak transcription	Brain Substantia Nigra	brain
24	chr13:49926800-49937800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:49929000-49936000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr13:49929400-49933400	Weak transcription	Fetal Heart	heart
27	chr13:49929400-49950000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr13:49929600-49934800	Weak transcription	Brain Germinal Matrix	brain
29	chr13:49929600-49936400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr13:49929800-49935200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr13:49929800-49937000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr13:49929800-49937600	Weak transcription	Liver	Liver
33	chr13:49931000-49935400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr13:49931200-49933600	Weak transcription	Fetal Muscle Leg	muscle
35	chr13:49931200-49934000	Strong transcription	Adipose Nuclei	Adipose
36	chr13:49931400-49933800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr13:49931600-49933400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr13:49931800-49934200	Strong transcription	Left Ventricle	heart
39	chr13:49932000-49938000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr13:49932200-49933400	Weak transcription	Colon Smooth Muscle	Colon
41	chr13:49932200-49934800	Weak transcription	Aorta	Aorta
42	chr13:49932200-49936600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr13:49932200-49941800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr13:49932200-49944600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr13:49932400-49933600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr13:49932400-49935000	Weak transcription	HSMM	muscle
47	chr13:49932400-49941400	Weak transcription	NHLF	lung
48	chr13:49932800-49933600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr13:49932800-49933800	Strong transcription	Ovary	ovary
50	chr13:49932800-49935600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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