Variant report

Variant	rs457638
Chromosome Location	chr5:80359968-80359969
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	chr5:80357227..80360103-chr5:80369290..80370908,2	K562	blood:
2	chr5:80359519..80361336-chr5:80366163..80368065,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10942941	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1102241	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11746440	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11750527	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs153227	0.90[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs252585	0.89[ASN][1000 genomes]
rs26418	0.81[CHB][hapmap]
rs26900	0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs26907	1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs34901966	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs404361	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs422765	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs435707	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs439994	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs440583	0.85[CEU][hapmap]
rs547145	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55727953	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55781224	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55802238	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61424809	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:28 , 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	chr5:80338200-80370600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:80338200-80376200	Weak transcription	NHLF	lung
5	chr5:80339200-80368600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:80339800-80374200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr5:80341400-80360000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr5:80343200-80366000	Weak transcription	Adipose Nuclei	Adipose
9	chr5:80343200-80394400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:80344400-80368800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:80344800-80382600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:80346400-80364800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr5:80346400-80365800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr5:80346600-80367000	Weak transcription	Brain Angular Gyrus	brain
15	chr5:80353600-80375400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr5:80354200-80382400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:80354400-80367800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:80356200-80370400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr5:80356600-80374600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:80357600-80360000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr5:80357800-80365800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr5:80359200-80361200	Strong transcription	HepG2	liver
23	chr5:80359800-80360000	ZNF genes & repeats	Left Ventricle	heart
24	chr5:80359800-80360200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:80359800-80360200	ZNF genes & repeats	Primary T cells from cord blood	blood
26	chr5:80359800-80360400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:80359800-80360800	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr5:80359800-80361400	Enhancers	Brain Inferior Temporal Lobe	brain

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