Variant report

Variant	rs73279132
Chromosome Location	chr12:45225727-45225728
allele	C/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]
rs1349354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450557	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs268040	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs372281	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs415380	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs421642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs444468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59173350	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59476102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59796533	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295338	1.00[EUR][1000 genomes]
rs73279107	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73279120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73279138	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73279180	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73279189	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv832394	chr12:45077573-45269305	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	nsv1036926	chr12:45131884-45273648	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv541484	chr12:45131884-45273648	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45211600-45227400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:45213600-45237800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:45220200-45227800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr12:45220200-45229800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:45220600-45242000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr12:45221800-45228000	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr12:45221800-45229200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr12:45221800-45242000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:45222200-45226200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:45222400-45227800	Enhancers	Primary T cells from cord blood	blood
11	chr12:45223200-45229400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr12:45224000-45228000	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr12:45224200-45226000	Enhancers	Primary T cells fromperipheralblood	blood
14	chr12:45224800-45225800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:45224800-45228400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:45224800-45229000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:45225200-45226200	Weak transcription	Fetal Brain Male	brain
18	chr12:45225200-45227400	Weak transcription	Fetal Brain Female	brain
19	chr12:45225200-45229000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:45225200-45231400	Enhancers	Fetal Intestine Small	intestine
21	chr12:45225400-45225800	Enhancers	Duodenum Mucosa	Duodenum
22	chr12:45225400-45227600	Enhancers	Fetal Intestine Large	intestine

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