Variant report

Variant	rs73953286
Chromosome Location	chr2:127952286-127952287
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	chr2:127947734..127951220-chr2:127951984..127955891,4	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs35075135	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55897983	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55912480	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56096327	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56911251	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953271	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953273	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953278	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953279	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953280	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953282	1.00[AMR][1000 genomes]
rs73953284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953287	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953292	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953302	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956513	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956524	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956527	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1006112	chr2:127830117-128032546	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2757832	chr2:127830943-128006514	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv2759090	chr2:127830943-128006514	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1011378	chr2:127841930-128020546	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv999809	chr2:127841930-128032546	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1010669	chr2:127848860-128032546	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription 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	8 gene(s)	inside rSNPs	diseases
8	nsv1003599	chr2:127871183-128059407	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv535920	chr2:127871183-128059407	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127934600-127955000	Weak transcription	NHEK	skin
2	chr2:127934600-127965600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:127941000-127963000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:127943000-127959400	Weak transcription	Gastric	stomach
5	chr2:127944000-127952800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:127948600-127959400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:127948800-127973400	Weak transcription	HMEC	breast
8	chr2:127950000-127952400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:127950200-127952400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:127950400-127953600	Enhancers	Adipose Nuclei	Adipose
11	chr2:127950600-127952400	Enhancers	Ovary	ovary
12	chr2:127950600-127953000	Enhancers	Fetal Lung	lung
13	chr2:127950600-127953000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr2:127950600-127953200	Enhancers	NHDF-Ad	bronchial
15	chr2:127950600-127953600	Enhancers	Fetal Muscle Leg	muscle
16	chr2:127950800-127952400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:127950800-127952800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:127950800-127953200	Enhancers	Osteobl	bone
19	chr2:127950800-127953600	Genic enhancers	Fetal Stomach	stomach
20	chr2:127951000-127952400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:127951000-127952800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:127951200-127952400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:127951200-127953600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr2:127951200-127954200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:127951200-127965800	Weak transcription	Esophagus	oesophagus
26	chr2:127951400-127953000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:127951400-127962200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:127951600-127952400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr2:127951600-127952400	Enhancers	Fetal Kidney	kidney
30	chr2:127951600-127952400	Enhancers	Stomach Smooth Muscle	stomach
31	chr2:127951600-127952400	Enhancers	HSMMtube	muscle
32	chr2:127951600-127953200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:127951600-127955200	Weak transcription	Psoas Muscle	Psoas
34	chr2:127951600-127958600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:127951800-127952600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:127952000-127952400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:127952000-127952400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:127952000-127952400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr2:127952000-127953600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr2:127952000-127954600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:127952000-127963000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr2:127952200-127952800	Weak transcription	Placenta	Placenta
43	chr2:127952200-127953200	Enhancers	Liver	Liver
44	chr2:127952200-127953600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:127952200-127953600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:127952200-127953600	Enhancers	Fetal Muscle Trunk	muscle
47	chr2:127952200-127959000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr2:127952200-127964400	Weak transcription	Right Atrium	heart
49	chr2:127952200-127975200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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