Variant report

Variant	rs73127136
Chromosome Location	chr5:80341495-80341496
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs59109100	1.00[EUR][1000 genomes]
rs60760812	1.00[EUR][1000 genomes]
rs6151913	1.00[AMR][1000 genomes]
rs73127143	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73127147	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73127151	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73127196	1.00[EUR][1000 genomes]
rs73127198	1.00[EUR][1000 genomes]
rs7730744	1.00[EUR][1000 genomes]
rs7732172	1.00[EUR][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:27 , 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	chr5:80332800-80343800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr5:80337200-80368600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr5:80337800-80355800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr5:80338200-80370600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:80338200-80376200	Weak transcription	NHLF	lung
7	chr5:80338400-80345400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:80339200-80368600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:80339600-80346400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:80339800-80342000	Weak transcription	Brain Angular Gyrus	brain
11	chr5:80339800-80355600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:80339800-80374200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr5:80340200-80345400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:80340400-80346000	Enhancers	Brain Substantia Nigra	brain
15	chr5:80340600-80342400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:80340800-80341600	Enhancers	HUVEC	blood vessel
17	chr5:80340800-80342000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:80340800-80344600	Enhancers	Brain Hippocampus Middle	brain
19	chr5:80341200-80341800	Enhancers	Brain Anterior Caudate	brain
20	chr5:80341200-80342200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:80341200-80342600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr5:80341200-80348000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr5:80341200-80356000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:80341400-80341800	Flanking Active TSS	HepG2	liver
25	chr5:80341400-80343000	Weak transcription	Primary T cells from cord blood	blood
26	chr5:80341400-80357400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr5:80341400-80360000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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