Variant report

Variant	rs12082624
Chromosome Location	chr1:185316361-185316362
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185314611..185317426-chr1:185402950..185405222,2	K562	blood:
2	chr1:185308094..185310941-chr1:185314344..185316672,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270920	Chromatin interaction
ENSG00000252407	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11806863	1.00[AMR][1000 genomes]
rs12068826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134443	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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv2756872	chr1:185293197-185345771	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2758981	chr1:185293197-185345771	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185308800-185317600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:185310800-185318600	Enhancers	HepG2	liver
3	chr1:185313200-185317400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:185313600-185316400	Enhancers	Primary B cells from peripheral blood	blood
5	chr1:185313800-185327800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:185314200-185318600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:185314400-185316400	Enhancers	Primary B cells from cord blood	blood
8	chr1:185314400-185316600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr1:185314600-185316600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr1:185314800-185316600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:185315000-185316400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:185315000-185316600	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:185315200-185316400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:185315200-185316400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr1:185315200-185316400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr1:185315200-185316400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr1:185315200-185317400	Enhancers	Primary T cells from cord blood	blood
18	chr1:185315600-185316400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr1:185315600-185316600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:185315600-185318400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:185315600-185318400	Weak transcription	Stomach Mucosa	stomach
22	chr1:185315600-185319600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr1:185316200-185317200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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