Variant report

Variant	rs12312754
Chromosome Location	chr12:47761240-47761241
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47760869..47762388-chr12:47762842..47764591,2	MCF-7	breast:
2	chr12:47753767..47756781-chr12:47759547..47762468,3	K562	blood:
3	chr12:47753699..47756781-chr12:47760392..47762468,4	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12296974	1.00[AMR][1000 genomes]
rs12298269	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302118	1.00[AMR][1000 genomes]
rs12302684	1.00[AMR][1000 genomes]
rs12306302	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12321759	1.00[AMR][1000 genomes]
rs28401511	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28483157	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47755400-47761600	Weak transcription	Spleen	Spleen
2	chr12:47755600-47762200	Weak transcription	Thymus	Thymus
3	chr12:47755800-47763000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr12:47756200-47771000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:47756800-47762200	Weak transcription	Fetal Thymus	thymus
6	chr12:47756800-47763200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:47756800-47763200	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr12:47758600-47761800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:47759000-47762800	Enhancers	Primary B cells from peripheral blood	blood
10	chr12:47759200-47763400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:47759800-47763200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr12:47760200-47763200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr12:47760400-47761400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:47760400-47762800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr12:47760400-47763000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr12:47760600-47761600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:47760600-47761600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:47761200-47761600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:47761200-47761800	Enhancers	Colon Smooth Muscle	Colon
20	chr12:47761200-47762800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
21	chr12:47761200-47763400	Enhancers	Primary T cells fromperipheralblood	blood

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