Variant report

Variant	rs12074912
Chromosome Location	chr1:62206678-62206679
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:62173080..62176930-chr1:62205875..62209587,4	MCF-7	breast:
2	chr1:62188914..62195188-chr1:62202056..62212232,19	MCF-7	breast:
3	chr1:62187463..62192137-chr1:62206143..62210486,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162604	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11207825	1.00[EUR][1000 genomes]
rs12069957	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12075300	1.00[EUR][1000 genomes]
rs7538547	1.00[EUR][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	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer 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	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62191400-62207400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:62202200-62207000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:62202200-62207200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:62202200-62207200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:62202200-62207200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:62202400-62207200	Weak transcription	Primary T cells from cord blood	blood
7	chr1:62202400-62207200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:62202400-62207200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:62202600-62207200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:62202800-62207000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:62203000-62206800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:62204800-62207400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:62205600-62207800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:62206200-62207200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:62206200-62207400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:62206400-62207200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:62206400-62207200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:62206400-62207200	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr1:62206400-62207200	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr1:62206400-62207600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:62206600-62206800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:62206600-62207400	Enhancers	Primary hematopoietic stem cells	blood
23	chr1:62206600-62207400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr1:62206600-62207600	Flanking Active TSS	Hela-S3	cervix

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