Variant report

Variant	rs435707
Chromosome Location	chr5:80322919-80322920
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10942941	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1102241	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11746440	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11750527	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs153226	0.80[JPT][hapmap]
rs26908	0.80[JPT][hapmap]
rs34901966	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34973	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs404361	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs422765	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs439994	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs440583	0.85[CEU][hapmap];0.93[YRI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs457638	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs547145	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55727953	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55781224	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55802238	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61424809	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv4897	chr5:80284196-80330223	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80311600-80323800	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr5:80311600-80325400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr5:80312200-80323600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:80318600-80323600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:80319600-80324200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:80319600-80374200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:80319800-80323200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr5:80319800-80326400	Weak transcription	Brain Angular Gyrus	brain
9	chr5:80320000-80323200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:80320000-80323800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr5:80321400-80324600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:80321400-80324800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr5:80322000-80323000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr5:80322000-80325400	Enhancers	HepG2	liver
15	chr5:80322400-80324400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:80322600-80323600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr5:80322800-80323000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:80322800-80323200	Enhancers	Pancreatic Islets	Pancreatic Islet

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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