Variant report

Variant	rs11059729
Chromosome Location	chr12:123236546-123236547
allele	C/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	chr12:123235580..123237478-chr12:123432464..123434294,2	MCF-7	breast:
2	chr12:123214031..123216827-chr12:123235538..123237939,3	MCF-7	breast:
3	chr12:123120054..123123996-chr12:123234682..123237075,4	MCF-7	breast:
4	chr12:123236169..123239442-chr12:123257222..123260625,5	MCF-7	breast:
5	chr12:122883132..122886264-chr12:123235650..123239708,3	MCF-7	breast:
6	chr12:123010150..123011921-chr12:123236546..123238778,2	MCF-7	breast:
7	chr12:123212708..123217136-chr12:123232023..123237517,8	MCF-7	breast:
8	chr12:122982981..122986123-chr12:123234906..123238729,4	MCF-7	breast:
9	chr12:123209450..123212113-chr12:123234197..123236734,3	MCF-7	breast:
10	chr12:123236013..123238671-chr12:123251016..123252979,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000206914	Chromatin interaction
ENSG00000130779	Chromatin interaction
ENSG00000130783	Chromatin interaction
ENSG00000033030	Chromatin interaction
ENSG00000196917	Chromatin interaction
ENSG00000184445	Chromatin interaction
ENSG00000270134	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000150967	Chromatin interaction

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

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

rs_ID	r²[population]
rs1026395	0.86[CEU][hapmap]
rs1037593	0.87[CEU][hapmap]
rs10847910	0.87[CEU][hapmap]
rs11060211	0.83[AMR][1000 genomes]
rs1260121	1.00[ASN][1000 genomes]
rs1671684	0.86[CEU][hapmap];0.83[AMR][1000 genomes]
rs1671686	0.83[AMR][1000 genomes]
rs1696327	0.83[AMR][1000 genomes]
rs1696355	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs1798563	1.00[ASN][1000 genomes]
rs1975761	1.00[ASN][1000 genomes]
rs2061099	0.86[CEU][hapmap]
rs2271048	0.83[AMR][1000 genomes]
rs2343107	0.87[CEU][hapmap]
rs2649894	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2649895	1.00[YRI][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2649896	1.00[ASN][1000 genomes]
rs2649900	1.00[YRI][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2649903	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2649904	0.83[AMR][1000 genomes]
rs2649914	1.00[ASN][1000 genomes]
rs2656812	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4759353	0.87[CEU][hapmap];0.83[AMR][1000 genomes]
rs4759354	0.87[CEU][hapmap]
rs4759384	0.86[CEU][hapmap]
rs4759438	0.87[CEU][hapmap]
rs548349	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs651683	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7138257	0.86[CEU][hapmap]
rs7306948	0.85[CEU][hapmap]
rs7485652	0.86[CEU][hapmap]
rs7958155	0.86[CEU][hapmap]
rs839352	1.00[AMR][1000 genomes]
rs839354	1.00[YRI][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs839355	1.00[ASN][1000 genomes]
rs839356	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs839357	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839362	0.87[ASN][1000 genomes]
rs897384	0.83[AMR][1000 genomes]
rs897388	0.87[CEU][hapmap];0.83[AMR][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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123228800-123236800	Weak transcription	Right Atrium	heart
2	chr12:123232600-123236600	Weak transcription	HMEC	breast
3	chr12:123232800-123236600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:123233200-123236600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr12:123233800-123236800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr12:123234200-123236800	Enhancers	HepG2	liver
7	chr12:123234200-123236800	Enhancers	K562	blood
8	chr12:123234600-123238200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr12:123235000-123236600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:123235200-123236600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:123235200-123236800	Enhancers	Primary hematopoietic stem cells	blood
12	chr12:123235400-123236600	Enhancers	Primary B cells from cord blood	blood
13	chr12:123235400-123236800	Enhancers	Primary B cells from peripheral blood	blood
14	chr12:123235400-123236800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr12:123235400-123236800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:123235400-123236800	Enhancers	GM12878-XiMat	blood
17	chr12:123235400-123237000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:123235600-123236800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:123235600-123238200	Active TSS	H9 Cell Line	embryonic stem cell
20	chr12:123235600-123238200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:123235600-123238200	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr12:123235600-123238200	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr12:123235600-123238200	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr12:123235800-123236600	Enhancers	NHEK	skin
25	chr12:123235800-123238000	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr12:123235800-123238000	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr12:123236000-123236800	Enhancers	Fetal Thymus	thymus
28	chr12:123236000-123237000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr12:123236000-123237200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr12:123236000-123238200	Active TSS	H1 Cell Line	embryonic stem cell
31	chr12:123236200-123236800	Enhancers	Primary T cells from cord blood	blood
32	chr12:123236200-123236800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr12:123236200-123238200	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr12:123236400-123236600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:123236400-123236600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr12:123236400-123236600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr12:123236400-123236600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr12:123236400-123236600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:123236400-123236600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:123236400-123236600	Enhancers	Adipose Nuclei	Adipose
41	chr12:123236400-123236600	Enhancers	Fetal Intestine Small	intestine
42	chr12:123236400-123236600	Enhancers	Thymus	Thymus
43	chr12:123236400-123236600	Flanking Active TSS	A549	lung
44	chr12:123236400-123236800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:123236400-123236800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:123236400-123236800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:123236400-123236800	Enhancers	Primary T cells fromperipheralblood	blood
48	chr12:123236400-123236800	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr12:123236400-123236800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:123236400-123236800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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