Variant report

Variant	rs12243549
Chromosome Location	chr10:6057441-6057442
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	chr10:6055685..6057860-chr10:6061812..6063688,2	MCF-7	breast:
2	chr10:6055157..6057962-chr10:6121223..6124023,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12243643	1.00[AMR][1000 genomes]
rs12258919	1.00[AMR][1000 genomes]
rs12722621	1.00[AMR][1000 genomes]
rs12722622	1.00[AMR][1000 genomes]
rs12722653	1.00[AMR][1000 genomes]
rs12722692	1.00[AMR][1000 genomes]
rs12722697	1.00[AMR][1000 genomes]
rs12722701	1.00[AMR][1000 genomes]
rs12722711	1.00[AMR][1000 genomes]
rs6602393	1.00[AMR][1000 genomes]
rs6602394	1.00[AMR][1000 genomes]
rs7896551	1.00[AMR][1000 genomes]
rs7917588	1.00[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	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6055800-6057600	Enhancers	Primary T cells fromperipheralblood	blood
2	chr10:6055800-6057600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr10:6055800-6057800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr10:6055800-6057800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr10:6055800-6058000	Weak transcription	Lung	lung
6	chr10:6056000-6058000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr10:6056200-6061000	Weak transcription	K562	blood
8	chr10:6056400-6058000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr10:6056400-6059200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr10:6056600-6058000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:6056600-6059800	Weak transcription	Stomach Mucosa	stomach
12	chr10:6056800-6058000	Weak transcription	Fetal Thymus	thymus
13	chr10:6056800-6060400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr10:6057000-6066000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr10:6057200-6057600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
16	chr10:6057200-6057600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr10:6057200-6060600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr10:6057400-6059000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr10:6057400-6059800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr10:6057400-6068600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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