Variant report

Variant	rs547145
Chromosome Location	chr5:80347188-80347189
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	chr5:80339660..80341192-chr5:80345997..80348393,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10942941	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1102241	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11746440	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11750527	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs153227	0.84[ASN][1000 genomes]
rs252585	0.87[ASN][1000 genomes]
rs26900	0.87[ASN][1000 genomes]
rs26907	0.90[ASN][1000 genomes]
rs34901966	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34973	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404361	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs422765	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs435707	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs439994	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs440583	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs457638	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55727953	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55781224	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55802238	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61424809	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	nsv830358	chr5:80197105-80358920	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80319600-80374200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr5:80337200-80368600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr5:80337800-80355800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr5:80338200-80370600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:80338200-80376200	Weak transcription	NHLF	lung
6	chr5:80339200-80368600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:80339800-80355600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:80339800-80374200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:80341200-80348000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr5:80341200-80356000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:80341400-80357400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr5:80341400-80360000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr5:80343200-80366000	Weak transcription	Adipose Nuclei	Adipose
14	chr5:80343200-80394400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:80343400-80347200	Weak transcription	Psoas Muscle	Psoas
16	chr5:80344400-80368800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:80344800-80382600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:80345200-80347800	Strong transcription	Primary T cells from cord blood	blood
19	chr5:80346400-80359800	Weak transcription	Left Ventricle	heart
20	chr5:80346400-80364800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:80346400-80365800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:80346600-80354200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:80346600-80356000	Weak transcription	HepG2	liver
24	chr5:80346600-80367000	Weak transcription	Brain Angular Gyrus	brain
25	chr5:80346800-80347200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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