Variant report

Variant	rs56387319
Chromosome Location	chr12:9919406-9919407
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10772127	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10772128	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11052978	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12422685	0.95[AFR][1000 genomes]
rs12422688	0.95[AFR][1000 genomes]
rs12422955	0.95[AFR][1000 genomes]
rs12425365	0.95[AFR][1000 genomes]
rs12427030	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12427278	0.95[AFR][1000 genomes]
rs12427301	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12816871	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12817268	0.95[AFR][1000 genomes]
rs12824297	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12824308	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs34111241	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34779650	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs35559880	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs55971014	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7295897	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7309767	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs9971740	0.95[AFR][1000 genomes];0.80[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	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv975645	chr12:9917034-9924808	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9914600-9920200	Enhancers	Primary T cells from cord blood	blood
2	chr12:9917600-9927200	Weak transcription	Esophagus	oesophagus
3	chr12:9918400-9920200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:9918400-9920200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:9918400-9920600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:9918400-9921200	Weak transcription	GM12878-XiMat	blood
7	chr12:9918400-9921800	Enhancers	Dnd41	blood
8	chr12:9918400-9922400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:9918400-9924800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:9918400-9925800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:9918400-9925800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:9918400-9925800	Weak transcription	Thymus	Thymus
13	chr12:9918400-9927200	Weak transcription	K562	blood
14	chr12:9918600-9920800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:9918600-9921200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr12:9918600-9921200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:9918600-9922000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:9918600-9922600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:9918600-9925400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:9918600-9932000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr12:9918800-9919600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr12:9918800-9919800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:9919000-9921000	Weak transcription	Primary B cells from cord blood	blood
24	chr12:9919000-9921200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr12:9919400-9920000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr12:9919400-9920000	Enhancers	Fetal Thymus	thymus

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