Variant report

Variant	rs55985078
Chromosome Location	chr12:45007113-45007114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10506253	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10506254	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12812412	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12817968	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12818520	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12818786	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12820225	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12827992	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12828039	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1517205	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17571851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17572194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17573382	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17651444	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17652890	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1869161	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2305449	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34192455	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs34500282	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34560815	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs34882841	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs35889925	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55996511	0.80[EUR][1000 genomes]
rs61932363	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61932405	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7295695	0.85[AFR][1000 genomes];0.81[AMR][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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	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
3	nsv430506	chr12:45003342-45072343	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44986800-45015800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:44998200-45024400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:44998800-45018200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:45001600-45009800	Weak transcription	Brain Angular Gyrus	brain
5	chr12:45002600-45009600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:45003200-45014200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:45004600-45012600	Weak transcription	Brain Germinal Matrix	brain
8	chr12:45004800-45020800	Weak transcription	Fetal Brain Female	brain
9	chr12:45004800-45034800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:45004800-45043200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:45005000-45023200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:45005000-45031200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:45005000-45044200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:45005400-45010400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:45005600-45011600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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