Variant report

Variant	rs2707057
Chromosome Location	chr12:122279603-122279604
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122277629..122280241-chr12:122306316..122307836,2	K562	blood:
2	chr12:122276172..122280016-chr12:122325268..122328286,4	MCF-7	breast:
3	chr12:122277992..122280217-chr12:122283383..122286165,2	MCF-7	breast:
4	chr12:122275909..122280625-chr12:122324321..122327791,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256950	Chromatin interaction
ENSG00000110801	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10840619	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11043202	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11043203	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1168668	0.82[ASN][1000 genomes]
rs1168669	0.82[ASN][1000 genomes]
rs1168672	0.82[ASN][1000 genomes]
rs12307227	0.82[ASN][1000 genomes]
rs12820413	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12823194	0.83[EUR][1000 genomes]
rs12825630	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1795965	0.82[ASN][1000 genomes]
rs2019561	0.82[ASN][1000 genomes]
rs2122266	0.81[EUR][1000 genomes]
rs2707067	0.82[ASN][1000 genomes]
rs895951	0.82[ASN][1000 genomes]
rs895952	0.82[ASN][1000 genomes]
rs895957	0.82[ASN][1000 genomes]
rs921286	0.82[ASN][1000 genomes]
rs921287	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv899567	chr12:122203680-122281575	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122278200-122281000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:122278200-122281000	Strong transcription	Liver	Liver
3	chr12:122278200-122281000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:122278200-122281200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:122278200-122281200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:122278200-122281200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:122278200-122281800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:122278200-122294000	Weak transcription	Spleen	Spleen
9	chr12:122278200-122296400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:122278400-122281000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:122278400-122281200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:122278400-122281200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:122278400-122281200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:122278400-122281400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:122278400-122283600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:122278400-122293000	Weak transcription	GM12878-XiMat	blood
17	chr12:122278400-122295400	Weak transcription	Fetal Intestine Small	intestine
18	chr12:122278600-122281000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:122278600-122281000	Weak transcription	A549	lung
20	chr12:122278600-122281200	Weak transcription	Placenta	Placenta
21	chr12:122278600-122283600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr12:122278800-122280400	Weak transcription	HepG2	liver
23	chr12:122278800-122281200	Enhancers	K562	blood
24	chr12:122278800-122283000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:122278800-122283400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:122278800-122283600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:122278800-122283800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:122278800-122287200	Weak transcription	Primary B cells from cord blood	blood

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