Variant report

Variant	rs252580
Chromosome Location	chr5:80401347-80401348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2445801	0.84[ASN][1000 genomes]
rs252581	0.98[ASN][1000 genomes]
rs465909	0.86[ASN][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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv830360	chr5:80283278-80446040	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv882232	chr5:80393949-80436584	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80375000-80422600	Weak transcription	Left Ventricle	heart
2	chr5:80383200-80409800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:80383200-80413600	Weak transcription	Ovary	ovary
4	chr5:80383400-80408400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:80383400-80414800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:80383400-80421600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr5:80383600-80409000	Weak transcription	Adipose Nuclei	Adipose
8	chr5:80383600-80412600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:80390600-80409200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:80392600-80408200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:80394000-80417000	Weak transcription	NHLF	lung
12	chr5:80394200-80408200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:80394600-80408400	Weak transcription	HepG2	liver
14	chr5:80396800-80409600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr5:80400400-80402000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr5:80400400-80402400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr5:80400600-80401400	Enhancers	Primary hematopoietic stem cells	blood
18	chr5:80400600-80401600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr5:80400600-80401800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:80400600-80401800	Enhancers	Primary T cells fromperipheralblood	blood
21	chr5:80400600-80401800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:80400600-80401800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr5:80400600-80401800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr5:80400600-80401800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:80400600-80401800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:80400600-80402000	Enhancers	Primary T cells from cord blood	blood
27	chr5:80400600-80402000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr5:80400600-80402600	Enhancers	Dnd41	blood
29	chr5:80400800-80401600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:80400800-80401800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr5:80400800-80402000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:80400800-80404200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr5:80401000-80401600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr5:80401000-80401800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:80401000-80409600	Weak transcription	Brain Substantia Nigra	brain
36	chr5:80401000-80417600	Weak transcription	Brain Angular Gyrus	brain
37	chr5:80401200-80401800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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