Variant report

Variant	rs58200570
Chromosome Location	chr5:80429929-80429930
allele	-/GA/TGTGTG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs153229	0.83[ASN][1000 genomes]
rs153230	0.83[ASN][1000 genomes]
rs153231	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs153232	0.83[ASN][1000 genomes]
rs153233	0.90[ASN][1000 genomes]
rs153234	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs153235	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs153236	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs153237	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs153238	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs153239	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs153240	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs153241	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs153242	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs153243	0.85[ASN][1000 genomes]
rs153244	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs168718	0.80[ASN][1000 genomes]
rs17213885	0.83[ASN][1000 genomes]
rs173596	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs190339	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs193786	0.83[ASN][1000 genomes]
rs2454870	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs248980	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs248981	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs248982	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs248983	0.92[ASN][1000 genomes]
rs248984	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs248985	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs248986	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs248987	0.80[ASN][1000 genomes]
rs248988	0.83[ASN][1000 genomes]
rs248989	0.87[ASN][1000 genomes]
rs26889	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs26890	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs26891	0.85[ASN][1000 genomes]
rs26892	0.85[ASN][1000 genomes]
rs26893	0.85[ASN][1000 genomes]
rs26894	0.84[ASN][1000 genomes]
rs26895	0.85[ASN][1000 genomes]
rs26896	0.83[ASN][1000 genomes]
rs26898	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs27513	0.83[ASN][1000 genomes]
rs27558	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs27781	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34115	0.83[ASN][1000 genomes]
rs34117	0.80[ASN][1000 genomes]
rs34120	0.83[ASN][1000 genomes]
rs34121	0.83[ASN][1000 genomes]
rs34122	0.82[ASN][1000 genomes]
rs382926	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs40046	0.83[ASN][1000 genomes]
rs457365	0.83[ASN][1000 genomes]
rs466044	0.82[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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80410600-80432400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr5:80410600-80446600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:80414200-80438000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:80417800-80436200	Weak transcription	Brain Hippocampus Middle	brain
5	chr5:80418400-80443800	Weak transcription	Brain Angular Gyrus	brain
6	chr5:80419400-80438200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr5:80421200-80435800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:80421800-80443600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr5:80422000-80436200	Weak transcription	Adipose Nuclei	Adipose
10	chr5:80422000-80443400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr5:80422200-80436200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:80422400-80436200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr5:80423000-80451400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr5:80423400-80436200	Weak transcription	Ovary	ovary
15	chr5:80423400-80436400	Weak transcription	Left Ventricle	heart
16	chr5:80423400-80443800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr5:80424200-80433800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:80424400-80434400	Weak transcription	HepG2	liver
19	chr5:80424400-80443800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr5:80424400-80445000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr5:80426400-80443800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:80426800-80434000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr5:80426800-80436200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:80427200-80430800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:80428000-80432400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:80428400-80430000	Weak transcription	Primary T cells from cord blood	blood
27	chr5:80428400-80433200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr5:80428600-80430200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:80429000-80436400	Weak transcription	Right Atrium	heart
30	chr5:80429200-80443800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr5:80429800-80430400	Enhancers	Fetal Brain Male	brain

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