Variant report

Variant	rs2973344
Chromosome Location	chr5:80888015-80888016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1436499	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2917542	0.85[ASN][1000 genomes]
rs2917544	0.88[ASN][1000 genomes]
rs2973338	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs382297	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs386874	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs413472	0.94[ASN][1000 genomes]
rs6898782	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs724913	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7702428	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv882234	chr5:80853708-80966666	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv525437	chr5:80876359-80964452	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80864200-80894200	Weak transcription	Fetal Lung	lung
2	chr5:80864600-80894200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr5:80870800-80894200	Weak transcription	Primary B cells from cord blood	blood
4	chr5:80875600-80894000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:80875600-80894200	Weak transcription	GM12878-XiMat	blood
6	chr5:80876000-80894200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:80881400-80894200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr5:80883200-80905800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr5:80883800-80909200	Weak transcription	HSMM	muscle
10	chr5:80885000-80894200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:80885200-80905400	Weak transcription	Pancreas	Pancrea
12	chr5:80886200-80888600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr5:80886400-80888800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:80886800-80905400	Weak transcription	Brain Substantia Nigra	brain
15	chr5:80887000-80888400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:80887000-80894400	Weak transcription	Left Ventricle	heart
17	chr5:80887000-80905600	Weak transcription	Brain Anterior Caudate	brain
18	chr5:80887000-80922400	Weak transcription	Psoas Muscle	Psoas
19	chr5:80887200-80894200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr5:80887200-80894200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:80887200-80894400	Weak transcription	Primary T cells from cord blood	blood
22	chr5:80887200-80894400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr5:80887200-80894400	Weak transcription	Thymus	Thymus
24	chr5:80887200-80898000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:80887200-80905400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr5:80887200-80911200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr5:80887400-80904600	Weak transcription	Osteobl	bone
28	chr5:80887600-80888600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:80887600-80888600	ZNF genes & repeats	Brain Germinal Matrix	brain
30	chr5:80887600-80888800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr5:80887600-80888800	ZNF genes & repeats	Fetal Stomach	stomach
32	chr5:80887600-80888800	ZNF genes & repeats	Fetal Thymus	thymus
33	chr5:80887800-80889800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:80887800-80892800	Weak transcription	Dnd41	blood
35	chr5:80888000-80888600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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