Variant report

Variant	rs12327907
Chromosome Location	chr2:152919055-152919056
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152918845..152920622-chr2:152923227..152925166,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10174354	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10803932	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11686080	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs11686447	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs12693209	0.91[CEU][hapmap]
rs12693222	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12693235	0.83[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13416880	0.90[CEU][hapmap]
rs13421383	0.81[CEU][hapmap];1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs13424885	0.86[CEU][hapmap];1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs13431460	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1806702	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs1879139	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs2102902	0.83[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2680981	0.83[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6722774	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7565396	0.91[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv875290	chr2:152803129-152920126	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	esv1847028	chr2:152863856-153045036	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152916000-152932000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:152918000-152920600	Enhancers	Fetal Brain Male	brain
3	chr2:152918600-152919600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:152918800-152919400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:152918800-152919400	Flanking Active TSS	GM12878-XiMat	blood
6	chr2:152918800-152919400	Flanking Active TSS	HSMMtube	muscle
7	chr2:152918800-152919400	Flanking Active TSS	NHDF-Ad	bronchial
8	chr2:152918800-152919400	Flanking Active TSS	Osteobl	bone
9	chr2:152918800-152919600	Enhancers	Primary B cells from cord blood	blood
10	chr2:152918800-152919600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:152918800-152919600	Enhancers	Fetal Kidney	kidney
12	chr2:152918800-152919600	Enhancers	Ovary	ovary
13	chr2:152918800-152919600	Enhancers	NH-A	brain
14	chr2:152918800-152919800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:152918800-152919800	Enhancers	Fetal Stomach	stomach
16	chr2:152918800-152920000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:152918800-152920000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:152918800-152920000	Enhancers	Colon Smooth Muscle	Colon
19	chr2:152918800-152920200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:152918800-152920200	Enhancers	HSMM	muscle
21	chr2:152918800-152920400	Enhancers	Fetal Muscle Leg	muscle
22	chr2:152918800-152920400	Enhancers	NHLF	lung
23	chr2:152918800-152920800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr2:152919000-152919200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:152919000-152919200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
26	chr2:152919000-152919200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:152919000-152919200	Enhancers	Brain Angular Gyrus	brain
28	chr2:152919000-152919200	Active TSS	Brain Cingulate Gyrus	brain
29	chr2:152919000-152919200	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr2:152919000-152919400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:152919000-152919400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:152919000-152919400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:152919000-152919400	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr2:152919000-152919400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr2:152919000-152919400	Enhancers	Esophagus	oesophagus
36	chr2:152919000-152919400	Enhancers	Fetal Muscle Trunk	muscle
37	chr2:152919000-152919400	Bivalent Enhancer	Placenta	Placenta
38	chr2:152919000-152919400	Enhancers	Left Ventricle	heart
39	chr2:152919000-152919400	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr2:152919000-152919400	Enhancers	Right Atrium	heart
41	chr2:152919000-152919400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr2:152919000-152919400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr2:152919000-152919600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr2:152919000-152919600	Enhancers	Primary hematopoietic stem cells	blood
45	chr2:152919000-152919600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:152919000-152919600	Enhancers	NHEK	skin
47	chr2:152919000-152919800	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr2:152919000-152919800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:152919000-152919800	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr2:152919000-152920400	Enhancers	Fetal Thymus	thymus

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