Variant report

Variant	rs7299592
Chromosome Location	chr12:45046778-45046779
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10748401	0.83[EUR][1000 genomes]
rs10748402	0.82[EUR][1000 genomes]
rs10785518	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10785520	0.84[EUR][1000 genomes]
rs10785521	0.84[EUR][1000 genomes]
rs10785522	0.82[EUR][1000 genomes]
rs10785523	0.82[EUR][1000 genomes]
rs10785524	0.82[EUR][1000 genomes]
rs10785525	0.82[EUR][1000 genomes]
rs10785526	0.81[EUR][1000 genomes]
rs10785527	0.83[EUR][1000 genomes]
rs10880665	0.84[EUR][1000 genomes]
rs10880667	0.83[EUR][1000 genomes]
rs10880668	0.83[EUR][1000 genomes]
rs10880669	0.83[EUR][1000 genomes]
rs10880670	0.84[EUR][1000 genomes]
rs10880671	0.84[EUR][1000 genomes]
rs10880672	0.83[EUR][1000 genomes]
rs10880674	0.83[EUR][1000 genomes]
rs10880675	0.81[EUR][1000 genomes]
rs10880676	0.82[EUR][1000 genomes]
rs11182562	0.82[ASN][1000 genomes]
rs12302273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12829763	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1450540	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17094882	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2218943	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2408047	0.84[EUR][1000 genomes]
rs2408048	0.83[EUR][1000 genomes]
rs3858729	0.83[EUR][1000 genomes]
rs4768067	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4768569	0.83[EUR][1000 genomes]
rs586188	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs590905	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs617006	0.84[EUR][1000 genomes]
rs625691	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs632893	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs633526	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641782	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs655191	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6582514	0.82[EUR][1000 genomes]
rs6582515	0.82[EUR][1000 genomes]
rs683285	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs686110	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7304431	0.83[AFR][1000 genomes]
rs838975	0.97[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	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
4	esv2762978	chr12:45042460-45051490	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45015000-45048400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:45023400-45055600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:45031600-45059200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr12:45042400-45047600	Weak transcription	Fetal Brain Female	brain
5	chr12:45042400-45047800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:45042400-45047800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:45043400-45047200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:45043600-45047400	Weak transcription	Fetal Brain Male	brain
9	chr12:45043600-45047800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:45043600-45048400	Weak transcription	Fetal Stomach	stomach
11	chr12:45043800-45047800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:45043800-45048000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:45043800-45048200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:45043800-45048200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:45043800-45048400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:45043800-45054000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr12:45044000-45047600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:45044400-45062800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:45045000-45048400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:45045200-45047800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:45046600-45050600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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