Variant report

Variant	rs2917544
Chromosome Location	chr5:80906583-80906584
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80900552..80902369-chr5:80906514..80908761,2	K562	blood:

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

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

rs_ID	r²[population]
rs1436499	0.91[ASN][1000 genomes]
rs2917542	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2973338	0.91[ASN][1000 genomes]
rs2973344	0.88[ASN][1000 genomes]
rs382297	0.94[ASN][1000 genomes]
rs386874	0.94[ASN][1000 genomes]
rs413472	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs435333	0.85[EUR][1000 genomes]
rs6898782	0.94[ASN][1000 genomes]
rs724913	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv462222	chr5:80900719-80964452	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv598752	chr5:80900719-80964452	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription 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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80883800-80909200	Weak transcription	HSMM	muscle
2	chr5:80887000-80922400	Weak transcription	Psoas Muscle	Psoas
3	chr5:80887200-80911200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:80893400-80926000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:80893600-80909600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr5:80895200-80909600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:80895600-80909200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr5:80895800-80912000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:80895800-80922600	Weak transcription	Fetal Heart	heart
10	chr5:80897200-80911800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:80897600-80922400	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:80898400-80910400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:80899400-80915400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr5:80900400-80911200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr5:80903600-80908400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:80903600-80911600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr5:80904000-80915000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:80904600-80906600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr5:80904800-80906600	ZNF genes & repeats	Primary B cells from cord blood	blood
20	chr5:80904800-80906600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:80904800-80906800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:80904800-80906800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
23	chr5:80904800-80907200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:80904800-80908000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr5:80904800-80908400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr5:80905000-80921400	Weak transcription	NHDF-Ad	bronchial
27	chr5:80905200-80907200	ZNF genes & repeats	GM12878-XiMat	blood
28	chr5:80905200-80926000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:80905400-80906600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:80905400-80906600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:80905400-80906600	ZNF genes & repeats	Liver	Liver
32	chr5:80905400-80912000	ZNF genes & repeats	Dnd41	blood
33	chr5:80905600-80906800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
34	chr5:80905600-80909200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:80905800-80906600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr5:80905800-80916000	Weak transcription	Fetal Brain Male	brain
37	chr5:80905800-80922200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:80906000-80906600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:80906000-80907600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr5:80906000-80909200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:80906000-80909200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr5:80906000-80909400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr5:80906000-80910200	Weak transcription	Brain Hippocampus Middle	brain
44	chr5:80906000-80911200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:80906000-80911200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr5:80906000-80912600	Weak transcription	Brain Substantia Nigra	brain
47	chr5:80906000-80913600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr5:80906000-80918000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr5:80906000-80927000	Weak transcription	Gastric	stomach
50	chr5:80906000-80929400	Weak transcription	Fetal Brain Female	brain

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