Variant report

Variant	rs12298269
Chromosome Location	chr12:47757245-47757246
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47747878..47750575-chr12:47752854..47757674,4	MCF-7	breast:

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]
rs12302118	1.00[AMR][1000 genomes]
rs12302684	1.00[AMR][1000 genomes]
rs12306302	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312754	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47755400-47757400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr12:47755400-47758000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:47755400-47758200	Enhancers	Primary hematopoietic stem cells	blood
4	chr12:47755400-47758600	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:47755400-47758600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:47755400-47759600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:47755400-47761600	Weak transcription	Spleen	Spleen
8	chr12:47755600-47758000	Enhancers	Primary B cells from cord blood	blood
9	chr12:47755600-47758600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:47755600-47760000	Weak transcription	Adipose Nuclei	Adipose
11	chr12:47755600-47760800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr12:47755600-47762200	Weak transcription	Thymus	Thymus
13	chr12:47755800-47759000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr12:47755800-47763000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr12:47756200-47771000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:47756400-47757400	Enhancers	Primary T cells from cord blood	blood
17	chr12:47756400-47758000	Weak transcription	A549	lung
18	chr12:47756400-47758600	Enhancers	Dnd41	blood
19	chr12:47756400-47759400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:47756600-47758600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:47756600-47759400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:47756600-47759400	Weak transcription	K562	blood
23	chr12:47756600-47759800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:47756600-47760000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:47756600-47761200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:47756800-47757400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr12:47756800-47757800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:47756800-47760200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr12:47756800-47762200	Weak transcription	Fetal Thymus	thymus
30	chr12:47756800-47763200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:47756800-47763200	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr12:47757000-47758000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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