Variant report

Variant	rs1260120
Chromosome Location	chr12:123249072-123249073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123242267..123244530-chr12:123248706..123250790,2	MCF-7	breast:
2	chr12:123238831..123241480-chr12:123248659..123252365,6	K562	blood:
3	chr12:123248578..123250218-chr12:123250623..123252365,2	K562	blood:
4	chr12:123235825..123239582-chr12:123243364..123250296,6	MCF-7	breast:
5	chr12:123237859..123240331-chr12:123248659..123250733,2	K562	blood:

Variant related genes	Relation type
ENSG00000139726	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10466883	0.92[ASN][1000 genomes]
rs10466884	0.92[ASN][1000 genomes]
rs11059711	0.92[ASN][1000 genomes]
rs11059724	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11059834	0.94[ASN][1000 genomes]
rs11059932	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11059953	0.91[ASN][1000 genomes]
rs11059954	0.92[ASN][1000 genomes]
rs12302287	0.94[ASN][1000 genomes]
rs12303150	0.92[ASN][1000 genomes]
rs12303270	0.94[ASN][1000 genomes]
rs12303951	0.91[ASN][1000 genomes]
rs12305822	0.91[ASN][1000 genomes]
rs12307038	0.94[ASN][1000 genomes]
rs12310386	0.92[ASN][1000 genomes]
rs12310901	0.94[ASN][1000 genomes]
rs12312837	0.94[ASN][1000 genomes]
rs12316263	0.92[ASN][1000 genomes]
rs12319160	0.91[ASN][1000 genomes]
rs12321100	0.90[ASN][1000 genomes]
rs12321556	0.92[ASN][1000 genomes]
rs1671679	0.92[ASN][1000 genomes]
rs1671688	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1696320	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2253504	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2649902	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2936730	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3817095	0.92[ASN][1000 genomes]
rs57366988	0.92[ASN][1000 genomes]
rs60469279	0.92[ASN][1000 genomes]
rs61176973	0.94[ASN][1000 genomes]
rs6489240	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs652533	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs701484	0.96[ASN][1000 genomes]
rs7138436	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7311386	0.92[ASN][1000 genomes]
rs7486414	0.92[ASN][1000 genomes]
rs7966971	0.91[ASN][1000 genomes]
rs839363	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9645762	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][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	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123238200-123249400	Weak transcription	Aorta	Aorta
2	chr12:123238400-123258000	Strong transcription	Fetal Muscle Trunk	muscle
3	chr12:123238600-123250800	Weak transcription	Stomach Mucosa	stomach
4	chr12:123238600-123255600	Strong transcription	Fetal Intestine Large	intestine
5	chr12:123238600-123255800	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr12:123238600-123258800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:123238800-123255600	Strong transcription	Primary B cells from peripheral blood	blood
8	chr12:123238800-123255600	Strong transcription	Fetal Muscle Leg	muscle
9	chr12:123238800-123255800	Strong transcription	Primary B cells from cord blood	blood
10	chr12:123238800-123255800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:123238800-123255800	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:123238800-123255800	Strong transcription	Liver	Liver
13	chr12:123238800-123256000	Strong transcription	NH-A	brain
14	chr12:123238800-123256200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:123238800-123256200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:123238800-123256200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr12:123238800-123256200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:123238800-123256600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr12:123238800-123257400	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:123238800-123257400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:123238800-123257600	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:123238800-123257800	Strong transcription	Fetal Thymus	thymus
23	chr12:123238800-123257800	Strong transcription	Osteobl	bone
24	chr12:123238800-123258000	Strong transcription	Placenta	Placenta
25	chr12:123239000-123252600	Strong transcription	NHDF-Ad	bronchial
26	chr12:123239000-123255200	Strong transcription	Brain Hippocampus Middle	brain
27	chr12:123239000-123255600	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr12:123239000-123255600	Strong transcription	Duodenum Mucosa	Duodenum
29	chr12:123239000-123255600	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr12:123239000-123256600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:123239000-123257400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:123239000-123257600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:123239200-123253000	Strong transcription	Primary hematopoietic stem cells	blood
34	chr12:123239200-123253600	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr12:123239200-123255800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:123239200-123255800	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr12:123239200-123255800	Strong transcription	Adipose Nuclei	Adipose
38	chr12:123239200-123257000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:123239200-123257400	Strong transcription	A549	lung
40	chr12:123239200-123257800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:123239400-123256800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:123239400-123257800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:123239400-123258000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:123239600-123258600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:123239800-123256200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:123239800-123257800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:123240400-123253600	Strong transcription	NHEK	skin
48	chr12:123240400-123257800	Strong transcription	Fetal Brain Female	brain
49	chr12:123240800-123253600	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr12:123241400-123257600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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