Variant report

Variant	rs71423201
Chromosome Location	chr13:40158110-40158111
allele	A/G
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:18)

rs_ID	r²[population]
rs12853787	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1548273	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17060288	0.98[ASN][1000 genomes]
rs2324348	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34490304	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4551908	0.98[ASN][1000 genomes]
rs56103901	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57628663	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61956463	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61956464	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61956467	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7333551	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs74044105	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7983392	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7985820	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7985865	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7987557	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs978136	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40140000-40169400	Weak transcription	Fetal Stomach	stomach
2	chr13:40140800-40165400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:40142000-40169400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr13:40142000-40169400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr13:40143000-40158200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr13:40143200-40161800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr13:40143200-40170800	Weak transcription	Osteobl	bone
8	chr13:40146000-40171800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr13:40146200-40161400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:40147000-40162200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:40150000-40172600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr13:40150400-40170600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr13:40150600-40171800	Weak transcription	HSMM	muscle
14	chr13:40153000-40171800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr13:40153200-40159800	Enhancers	Fetal Heart	heart
16	chr13:40153200-40171800	Weak transcription	HMEC	breast
17	chr13:40153400-40161000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr13:40153400-40161400	Weak transcription	Lung	lung
19	chr13:40153400-40161400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr13:40153600-40162200	Weak transcription	Psoas Muscle	Psoas
21	chr13:40153600-40170600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:40153600-40171800	Weak transcription	Aorta	Aorta
23	chr13:40155600-40158800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr13:40155600-40159400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:40155600-40162000	Weak transcription	Fetal Lung	lung
26	chr13:40155600-40170400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr13:40155600-40175800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr13:40156200-40160000	Enhancers	Left Ventricle	heart
29	chr13:40156400-40171000	Weak transcription	Brain Hippocampus Middle	brain
30	chr13:40156400-40171000	Weak transcription	Brain Substantia Nigra	brain
31	chr13:40156800-40159000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr13:40157000-40161400	Weak transcription	Right Atrium	heart
33	chr13:40157000-40172000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr13:40157200-40158200	Enhancers	Placenta Amnion	Placenta Amnion
35	chr13:40157200-40160800	Weak transcription	Fetal Muscle Leg	muscle
36	chr13:40157200-40162200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr13:40157800-40158200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr13:40157800-40158200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr13:40157800-40158200	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr13:40157800-40158200	Flanking Active TSS	NHLF	lung
41	chr13:40157800-40158400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr13:40157800-40158400	Enhancers	Adipose Nuclei	Adipose
43	chr13:40157800-40158400	Enhancers	Right Ventricle	heart
44	chr13:40157800-40158400	Enhancers	NHDF-Ad	bronchial
45	chr13:40157800-40158600	Enhancers	Ovary	ovary
46	chr13:40158000-40158200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr13:40158000-40158200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr13:40158000-40158200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr13:40158000-40158200	Enhancers	Brain Angular Gyrus	brain
50	chr13:40158000-40158600	Enhancers	Colon Smooth Muscle	Colon

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