Variant report

Variant	rs72927112
Chromosome Location	chr2:39581045-39581046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39578352..39581305-chr2:39581449..39583295,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17023746	1.00[AMR][1000 genomes]
rs59367765	1.00[AMR][1000 genomes]
rs60080259	1.00[AMR][1000 genomes]
rs61307566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61570293	1.00[AMR][1000 genomes]
rs72925265	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72925273	1.00[AMR][1000 genomes]
rs72925279	1.00[AMR][1000 genomes]
rs72925287	1.00[AMR][1000 genomes]
rs72927106	1.00[AMR][1000 genomes]
rs72927470	1.00[AMR][1000 genomes]
rs72930080	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72930083	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72930099	1.00[AMR][1000 genomes]
rs72931126	0.82[AFR][1000 genomes]
rs72931162	1.00[AMR][1000 genomes]
rs72931169	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931170	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72932006	1.00[AMR][1000 genomes]
rs72932012	1.00[AMR][1000 genomes]
rs72932020	1.00[AMR][1000 genomes]
rs7578373	1.00[AMR][1000 genomes]
rs7603259	1.00[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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39519800-39583000	Weak transcription	Brain Angular Gyrus	brain
2	chr2:39520000-39586200	Weak transcription	Fetal Kidney	kidney
3	chr2:39524000-39583600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:39528800-39581800	Weak transcription	Brain Germinal Matrix	brain
5	chr2:39534000-39586200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:39539000-39583800	Weak transcription	Brain Anterior Caudate	brain
7	chr2:39539000-39586400	Weak transcription	Pancreas	Pancrea
8	chr2:39541000-39586400	Weak transcription	Lung	lung
9	chr2:39541400-39582200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:39545400-39585800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:39554600-39586400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:39555400-39581200	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:39555400-39581200	Weak transcription	Fetal Stomach	stomach
14	chr2:39555600-39581400	Weak transcription	Fetal Intestine Small	intestine
15	chr2:39555600-39582200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:39556000-39581600	Weak transcription	Placenta	Placenta
17	chr2:39556200-39582400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:39556400-39585000	Weak transcription	Primary B cells from cord blood	blood
19	chr2:39556800-39582200	Weak transcription	Left Ventricle	heart
20	chr2:39557000-39582400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:39557000-39586800	Weak transcription	Aorta	Aorta
22	chr2:39557200-39582600	Weak transcription	Primary T cells from cord blood	blood
23	chr2:39557200-39586000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:39557600-39581600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:39557800-39581600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:39558400-39583800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:39558600-39584000	Weak transcription	Ovary	ovary
28	chr2:39558800-39586600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:39559000-39581800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr2:39559000-39586400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:39559600-39586200	Weak transcription	Liver	Liver
32	chr2:39561600-39581800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:39562000-39581600	Weak transcription	Fetal Intestine Large	intestine
34	chr2:39562200-39584000	Weak transcription	Right Ventricle	heart
35	chr2:39562400-39586600	Weak transcription	NHLF	lung
36	chr2:39562600-39586000	Weak transcription	Fetal Lung	lung
37	chr2:39563000-39586000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr2:39563200-39581800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:39563400-39585800	Weak transcription	Dnd41	blood
40	chr2:39563600-39581800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:39566800-39581600	Weak transcription	K562	blood
42	chr2:39569600-39586200	Weak transcription	HMEC	breast
43	chr2:39570800-39582600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:39571400-39586200	Weak transcription	NH-A	brain
45	chr2:39571600-39585000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:39572200-39586000	Weak transcription	A549	lung
47	chr2:39572200-39597600	Weak transcription	Osteobl	bone
48	chr2:39572800-39581200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:39572800-39581600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:39572800-39586000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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