Variant report

Variant	rs1869162
Chromosome Location	chr12:45008720-45008721
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]
rs1037433	0.90[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1037434	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10506256	0.90[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes]
rs10748400	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10785515	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10880655	0.91[EUR][1000 genomes]
rs10880657	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880658	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10880659	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10880660	0.85[ASN][1000 genomes]
rs10880666	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs10880673	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs11182559	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182596	0.85[ASN][1000 genomes]
rs11182636	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs12815257	0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1563043	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1966855	0.93[EUR][1000 genomes]
rs2060840	0.83[JPT][hapmap];0.94[EUR][1000 genomes]
rs2084843	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2305448	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4544065	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs4768066	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4768563	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768564	0.95[CHB][hapmap];0.94[JPT][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs583575	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs605722	0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes]
rs615760	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs628408	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs632481	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs636843	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs678663	0.85[EUR][1000 genomes]
rs688669	0.80[EUR][1000 genomes]
rs7295999	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7299365	0.85[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs7301539	0.85[ASN][1000 genomes]
rs7308509	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs7310844	0.85[ASN][1000 genomes]
rs7314643	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs765769	0.93[EUR][1000 genomes]
rs7958389	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7968076	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7970849	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs838973	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs966383	0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs978540	0.86[EUR][1000 genomes];0.86[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	nsv983484	chr12:45007736-45010626	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

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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