Variant report

Variant	rs34723945
Chromosome Location	chr5:15579556-15579557
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10053439	1.00[AMR][1000 genomes]
rs10063929	0.83[AMR][1000 genomes]
rs10064400	0.83[AMR][1000 genomes]
rs10067454	0.83[AMR][1000 genomes]
rs10079843	0.83[AMR][1000 genomes]
rs10475065	0.83[AMR][1000 genomes]
rs11960780	1.00[AMR][1000 genomes]
rs13354129	0.83[AMR][1000 genomes]
rs13362417	0.83[AMR][1000 genomes]
rs58390853	1.00[AMR][1000 genomes]
rs7729228	1.00[AMR][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	nsv516929	chr5:15087791-15870300	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1023068	chr5:15095221-15863583	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv869040	chr5:15097602-15866117	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats 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	13 gene(s)	inside rSNPs	diseases
4	nsv530222	chr5:15151662-15851485	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr5:15555800-15584200	Weak transcription	HSMM	muscle
2	chr5:15567200-15580600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:15571400-15581000	Enhancers	Fetal Heart	heart
4	chr5:15572000-15583600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:15572000-15583800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:15572800-15583200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:15573000-15583800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:15573200-15583600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:15573600-15579600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:15574000-15594200	Weak transcription	Fetal Kidney	kidney
11	chr5:15575600-15583600	Weak transcription	HSMMtube	muscle
12	chr5:15575800-15582800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:15576000-15582600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:15576000-15584200	Weak transcription	Adipose Nuclei	Adipose
15	chr5:15576000-15584800	Weak transcription	NHLF	lung
16	chr5:15576000-15585200	Weak transcription	NHDF-Ad	bronchial
17	chr5:15576200-15580800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:15576200-15588000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:15577400-15580000	Enhancers	Right Atrium	heart
20	chr5:15577400-15580800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr5:15577600-15579600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:15577600-15583200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:15577600-15584800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:15577800-15580000	Enhancers	Brain Substantia Nigra	brain
25	chr5:15578000-15585200	Weak transcription	Osteobl	bone
26	chr5:15578200-15580400	Enhancers	Fetal Stomach	stomach
27	chr5:15578200-15580800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr5:15578200-15581400	Weak transcription	Ovary	ovary
29	chr5:15578200-15590200	Weak transcription	Right Ventricle	heart
30	chr5:15578200-15596200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:15578200-15600200	Weak transcription	Left Ventricle	heart
32	chr5:15578400-15583400	Weak transcription	Fetal Lung	lung
33	chr5:15578400-15584200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr5:15578600-15580000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:15578600-15583800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:15578800-15579800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:15578800-15579800	Weak transcription	Aorta	Aorta
38	chr5:15578800-15580800	Weak transcription	Fetal Muscle Leg	muscle
39	chr5:15578800-15584600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:15579000-15579600	Enhancers	Brain Hippocampus Middle	brain
41	chr5:15579000-15580200	Enhancers	Colon Smooth Muscle	Colon
42	chr5:15579000-15580400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:15579200-15580000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:15579200-15580200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:15579200-15581400	Weak transcription	Dnd41	blood
46	chr5:15579400-15580000	Enhancers	Brain Anterior Caudate	brain
47	chr5:15579400-15580000	Enhancers	Brain Cingulate Gyrus	brain
48	chr5:15579400-15580200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:15579400-15580400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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