Variant report

Variant	rs72927123
Chromosome Location	chr2:39588169-39588170
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39581524..39583959-chr2:39586784..39588300,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs57164521	0.85[AMR][1000 genomes]
rs58019817	0.85[AMR][1000 genomes]
rs59893783	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs6706951	0.85[AMR][1000 genomes]
rs6722096	0.85[AMR][1000 genomes]
rs6725496	0.85[AMR][1000 genomes]
rs72925278	0.85[AMR][1000 genomes]
rs72925283	0.85[AMR][1000 genomes]
rs72925290	0.85[AMR][1000 genomes]
rs72927103	0.85[AMR][1000 genomes]
rs72927107	0.85[AMR][1000 genomes]
rs72927108	0.85[AMR][1000 genomes]
rs72927110	0.85[AMR][1000 genomes]
rs72927119	0.85[AMR][1000 genomes]
rs72927143	0.85[AMR][1000 genomes]
rs72931122	0.93[AMR][1000 genomes]
rs72931140	0.93[AMR][1000 genomes]
rs72931150	0.85[AMR][1000 genomes]
rs72931159	0.85[AMR][1000 genomes]
rs72931161	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010874	chr2:39255376-39604535	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv535649	chr2:39255376-39604535	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv531346	chr2:39263225-39606367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv533348	chr2:39264345-39596169	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv1014520	chr2:39270598-39596299	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv535650	chr2:39270598-39596299	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv1009379	chr2:39271472-39604535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv533456	chr2:39281834-39596298	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	esv1832414	chr2:39385155-39588797	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers 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	21 gene(s)	inside rSNPs	diseases
13	nsv833847	chr2:39410762-39604640	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv533445	chr2:39412970-39605266	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	esv1830024	chr2:39440552-39588797	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv873887	chr2:39468676-39601889	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
18	esv1809158	chr2:39474679-39588797	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	esv1828851	chr2:39508121-39588797	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	esv1806203	chr2:39570427-39588797	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39572200-39597600	Weak transcription	Osteobl	bone
2	chr2:39584200-39588400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:39584400-39598400	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:39584400-39604600	Weak transcription	Right Ventricle	heart
5	chr2:39584800-39591600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:39585000-39588400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr2:39585000-39591400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:39585200-39590600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr2:39585200-39590600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr2:39585200-39591400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr2:39585400-39588400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:39585400-39590200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr2:39585600-39588400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr2:39585600-39588400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:39585600-39591600	Weak transcription	Fetal Heart	heart
16	chr2:39585800-39588400	ZNF genes & repeats	Dnd41	blood
17	chr2:39586000-39588200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:39586000-39588200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:39586000-39588200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chr2:39586000-39588200	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr2:39586000-39588200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
22	chr2:39586000-39588200	ZNF genes & repeats	Fetal Lung	lung
23	chr2:39586000-39588200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
24	chr2:39586000-39588200	ZNF genes & repeats	A549	lung
25	chr2:39586000-39588400	ZNF genes & repeats	HepG2	liver
26	chr2:39586000-39590800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
27	chr2:39586200-39588200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:39586200-39588200	ZNF genes & repeats	Liver	Liver
29	chr2:39586200-39588400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:39586200-39588400	ZNF genes & repeats	Primary T cells from cord blood	blood
31	chr2:39586200-39588400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr2:39586400-39588200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:39586400-39588200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:39586400-39588200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:39586400-39588400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
36	chr2:39586400-39588400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
37	chr2:39586600-39588200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
38	chr2:39586600-39588200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
39	chr2:39586800-39590400	Weak transcription	Left Ventricle	heart
40	chr2:39587000-39589800	Weak transcription	HSMMtube	muscle
41	chr2:39587000-39596800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:39587000-39597000	Weak transcription	NHLF	lung
43	chr2:39587000-39608800	Weak transcription	Pancreas	Pancrea
44	chr2:39587200-39590000	Weak transcription	HSMM	muscle
45	chr2:39587200-39604400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:39587800-39588200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:39587800-39594400	Weak transcription	Stomach Mucosa	stomach
48	chr2:39587800-39604800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr2:39588000-39589600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:39588000-39589800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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