Variant report

Variant	rs12120757
Chromosome Location	chr1:209583905-209583906
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:209577431..209579608-chr1:209581964..209584612,3	K562	blood:
2	chr1:209560392..209562273-chr1:209582844..209585455,2	MCF-7	breast:
3	chr1:209583721..209587337-chr1:209587935..209591098,6	MCF-7	breast:
4	chr1:209569255..209571972-chr1:209582000..209584014,2	MCF-7	breast:
5	chr1:209581992..209584138-chr1:209585328..209587759,2	MCF-7	breast:
6	chr1:209557001..209559198-chr1:209583129..209584738,2	MCF-7	breast:
7	chr1:209583470..209586141-chr1:209661722..209664045,2	MCF-7	breast:
8	chr1:209577721..209579669-chr1:209582737..209584815,2	MCF-7	breast:
9	chr1:209540623..209542748-chr1:209583798..209586109,2	K562	blood:
10	chr1:209576552..209581485-chr1:209581592..209585768,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231648	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12119349	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12119464	1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12119465	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12120796	0.91[EUR][1000 genomes]
rs12121931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124710	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12125358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126305	0.80[EUR][1000 genomes]
rs12126769	0.80[EUR][1000 genomes]
rs12128640	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12135244	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12136870	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12137134	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12137788	0.80[EUR][1000 genomes]
rs12139847	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12140172	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12140436	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12140751	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12144443	0.82[EUR][1000 genomes]
rs12144663	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144725	0.90[EUR][1000 genomes]
rs12145008	0.80[EUR][1000 genomes]
rs6668608	0.80[EUR][1000 genomes]
rs6682392	1.00[CEU][hapmap]
rs74155466	0.84[EUR][1000 genomes]
rs74155471	0.86[EUR][1000 genomes]
rs74155478	0.90[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	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209567200-209584600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:209573000-209590200	Weak transcription	Fetal Thymus	thymus
3	chr1:209578800-209584800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:209579200-209584400	Enhancers	HMEC	breast
5	chr1:209579600-209584000	Weak transcription	HSMMtube	muscle
6	chr1:209579600-209584800	Weak transcription	Fetal Stomach	stomach
7	chr1:209579800-209584600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:209579800-209589200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:209580000-209584400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:209580000-209584600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:209580000-209584600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:209580000-209584800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:209580000-209584800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:209580000-209584800	Weak transcription	NHLF	lung
15	chr1:209580200-209584400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:209580200-209584400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:209580200-209584400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:209580200-209584800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:209581000-209584600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:209582200-209584400	Enhancers	NHEK	skin
21	chr1:209582200-209586800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:209582600-209585800	Enhancers	NH-A	brain
23	chr1:209582600-209586000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:209582600-209586600	Enhancers	A549	lung
25	chr1:209582800-209584200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:209582800-209584200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:209582800-209584400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:209582800-209584600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:209582800-209585400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:209582800-209585600	Enhancers	Placenta	Placenta
31	chr1:209582800-209592200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:209583000-209585200	Enhancers	Hela-S3	cervix
33	chr1:209583000-209585800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:209583000-209586200	Enhancers	Osteobl	bone
35	chr1:209583000-209586400	Enhancers	HSMM	muscle
36	chr1:209583200-209584000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:209583200-209586000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr1:209583400-209584600	Weak transcription	NHDF-Ad	bronchial
39	chr1:209583600-209584600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:209583600-209586000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr1:209583800-209584000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:209583800-209584000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr1:209583800-209585600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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