Variant report

Variant	rs74087069
Chromosome Location	chr13:52710344-52710345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs55896522	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56263093	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60301069	0.81[AFR][1000 genomes]
rs74085711	0.81[AFR][1000 genomes]
rs74085729	0.81[AFR][1000 genomes]
rs74085738	0.81[AFR][1000 genomes]
rs74085755	0.81[AFR][1000 genomes]
rs74085758	0.81[AFR][1000 genomes]
rs74087056	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087066	1.00[AMR][1000 genomes]
rs74087072	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089427	0.83[AFR][1000 genomes]
rs7999902	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv1037567	chr13:52643647-52802799	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv3429935	chr13:52694751-52735744	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52703600-52720400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr13:52703600-52725200	Weak transcription	Right Ventricle	heart
3	chr13:52703600-52725200	Weak transcription	Small Intestine	intestine
4	chr13:52703600-52725600	Weak transcription	Fetal Brain Male	brain
5	chr13:52703600-52730800	Weak transcription	Stomach Mucosa	stomach
6	chr13:52703600-52731000	Weak transcription	Brain Angular Gyrus	brain
7	chr13:52703600-52732600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr13:52703600-52732800	Weak transcription	Psoas Muscle	Psoas
9	chr13:52703600-52733000	Weak transcription	Esophagus	oesophagus
10	chr13:52703800-52720000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr13:52703800-52720400	Weak transcription	HSMM	muscle
12	chr13:52703800-52723800	Weak transcription	Colonic Mucosa	Colon
13	chr13:52703800-52724800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr13:52703800-52731200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr13:52703800-52731400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr13:52703800-52731400	Weak transcription	Spleen	Spleen
17	chr13:52703800-52732600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr13:52703800-52732600	Weak transcription	HMEC	breast
19	chr13:52703800-52733200	Weak transcription	Gastric	stomach
20	chr13:52704000-52711000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:52704000-52733000	Weak transcription	Fetal Thymus	thymus
22	chr13:52704200-52725400	Weak transcription	Primary T cells from cord blood	blood
23	chr13:52704800-52710400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr13:52704800-52727000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:52704800-52730000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr13:52705000-52710400	Strong transcription	Brain Germinal Matrix	brain
27	chr13:52705000-52711000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr13:52705000-52711200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:52705000-52712400	Strong transcription	HepG2	liver
30	chr13:52705000-52716200	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr13:52705200-52710400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr13:52705200-52710400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr13:52705200-52710600	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr13:52705200-52710600	Strong transcription	Fetal Intestine Large	intestine
35	chr13:52705200-52710800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr13:52705200-52711000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr13:52705200-52712800	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr13:52705200-52713400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr13:52705200-52715800	Strong transcription	Adipose Nuclei	Adipose
40	chr13:52705200-52715800	Strong transcription	Duodenum Mucosa	Duodenum
41	chr13:52705200-52719800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr13:52705400-52710400	Strong transcription	Brain Hippocampus Middle	brain
43	chr13:52705400-52710400	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr13:52705400-52710600	Strong transcription	Fetal Muscle Trunk	muscle
45	chr13:52705400-52715400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:52705600-52710800	Strong transcription	Placenta	Placenta
47	chr13:52705800-52710400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr13:52706000-52710600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr13:52706000-52715000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr13:52706000-52719200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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