Variant report

Variant	rs1169085
Chromosome Location	chr12:122445233-122445234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122440832..122442485-chr12:122443851..122445815,2	K562	blood:
2	chr12:122444926..122447764-chr12:122458397..122461144,2	K562	blood:
3	chr12:122441336..122445469-chr12:122458589..122461636,5	MCF-7	breast:
4	chr12:122439280..122442623-chr12:122442639..122445815,4	K562	blood:

Variant related genes	Relation type
ENSG00000158023	Chromatin interaction
ENSG00000110987	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11043248	1.00[LWK][hapmap]
rs1154510	0.82[CEU][hapmap];0.80[MEX][hapmap]
rs1154513	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1169075	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1169077	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1169080	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1169082	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1169092	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1169093	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1182927	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1185260	0.82[CEU][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];0.91[JPT][hapmap];0.91[LWK][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1667580	0.93[ASN][1000 genomes]
rs1667583	0.82[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.90[MEX][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1667584	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1678951	0.93[ASN][1000 genomes]
rs1678967	0.85[ASN][1000 genomes]
rs1678969	1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[JPT][hapmap];0.84[LWK][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1720041	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.97[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1720067	0.85[ASN][1000 genomes]
rs1916333	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2230681	0.82[CEU][hapmap]
rs2247139	0.91[ASN][1000 genomes]
rs2247291	0.82[CEU][hapmap]
rs2596144	0.82[CEU][hapmap]
rs2620340	0.82[CEU][hapmap]
rs2620353	0.84[ASN][1000 genomes]
rs2707056	0.82[CEU][hapmap]
rs4760099	0.82[CEU][hapmap]
rs493519	0.82[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs529736	0.86[MEX][hapmap]
rs6486794	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs693277	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7314056	0.82[CEU][hapmap];0.91[LWK][hapmap];0.85[MEX][hapmap]
rs7957207	1.00[ASW][hapmap];0.91[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7961103	1.00[ASW][hapmap];0.91[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs830116	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs830120	0.90[MEX][hapmap]
rs830122	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs830123	1.00[MEX][hapmap];0.81[TSI][hapmap];0.88[AMR][1000 genomes]
rs830124	0.82[CEU][hapmap];0.84[GIH][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap]
rs830126	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs853758	0.82[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs895958	0.82[CEU][hapmap];0.93[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.93[ASN][1000 genomes]
rs895959	0.82[CEU][hapmap]
rs9739533	0.89[AMR][1000 genomes];0.83[EUR][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	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
3	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
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122440400-122445800	Enhancers	Primary hematopoietic stem cells	blood
2	chr12:122441000-122445600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:122441600-122445800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr12:122441800-122445800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:122441800-122445800	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr12:122442000-122446800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:122442600-122458800	Weak transcription	Aorta	Aorta
8	chr12:122442800-122445600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:122443000-122445600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:122443000-122446000	Weak transcription	Adipose Nuclei	Adipose
11	chr12:122443000-122449000	Enhancers	Primary B cells from peripheral blood	blood
12	chr12:122443000-122458800	Weak transcription	Brain Anterior Caudate	brain
13	chr12:122443400-122446200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr12:122443400-122446600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:122443400-122446800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:122443400-122446800	Weak transcription	NHEK	skin
17	chr12:122443400-122458800	Weak transcription	Right Ventricle	heart
18	chr12:122443400-122459000	Weak transcription	Right Atrium	heart
19	chr12:122443600-122446600	Weak transcription	HSMMtube	muscle
20	chr12:122443600-122446800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:122443600-122448400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:122444200-122446800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:122444600-122446000	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr12:122444600-122446000	Enhancers	Dnd41	blood
25	chr12:122444600-122446800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:122444600-122458600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:122444800-122445400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:122444800-122445400	Enhancers	GM12878-XiMat	blood
29	chr12:122444800-122445800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:122444800-122445800	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr12:122444800-122446000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr12:122444800-122446000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr12:122444800-122447200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:122444800-122449200	Enhancers	Fetal Thymus	thymus
35	chr12:122445000-122445800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr12:122445000-122446000	Enhancers	Primary T cells from cord blood	blood
37	chr12:122445000-122446600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:122445000-122447800	Enhancers	Thymus	Thymus
39	chr12:122445000-122448600	Enhancers	Primary B cells from cord blood	blood
40	chr12:122445200-122445400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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