Variant report

Variant	rs72618659
Chromosome Location	chr2:54688508-54688509
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54686513..54688620-chr2:54689845..54691769,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10171331	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10205013	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12477221	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3087854	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35001659	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4233950	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4635562	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4671933	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4671935	0.83[EUR][1000 genomes]
rs58779052	0.87[EUR][1000 genomes]
rs6545409	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6718276	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv874150	chr2:54684557-54755229	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv874151	chr2:54684557-54761329	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1004645	chr2:54686497-54718440	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54683000-54688800	Active TSS	HSMMtube	muscle
2	chr2:54685200-54690200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:54685200-54690400	Weak transcription	Pancreas	Pancrea
4	chr2:54685200-54694600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:54685200-54696600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:54685400-54696600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:54685600-54688600	Weak transcription	Liver	Liver
8	chr2:54686400-54691400	Enhancers	Brain Substantia Nigra	brain
9	chr2:54686400-54694000	Weak transcription	Fetal Stomach	stomach
10	chr2:54686400-54695600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:54686400-54697800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:54686600-54688600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:54686600-54688600	Enhancers	Right Ventricle	heart
14	chr2:54686600-54688600	Weak transcription	HMEC	breast
15	chr2:54686600-54689200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:54686600-54689400	Enhancers	Brain Cingulate Gyrus	brain
17	chr2:54686600-54690600	Enhancers	NHDF-Ad	bronchial
18	chr2:54686600-54692200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:54686600-54692400	Weak transcription	Osteobl	bone
20	chr2:54686600-54694000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:54686600-54694000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:54686600-54695000	Enhancers	Fetal Heart	heart
23	chr2:54686600-54696200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:54686600-54696600	Weak transcription	Lung	lung
25	chr2:54686600-54696800	Weak transcription	NH-A	brain
26	chr2:54686600-54697000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:54686600-54698600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:54686800-54689800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:54686800-54690000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:54686800-54690600	Enhancers	Brain Angular Gyrus	brain
31	chr2:54687000-54688800	Enhancers	Fetal Brain Male	brain
32	chr2:54687000-54688800	Enhancers	Psoas Muscle	Psoas
33	chr2:54687000-54689000	Genic enhancers	HSMM	muscle
34	chr2:54687000-54689200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:54687000-54689200	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr2:54687000-54690400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:54687000-54690600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr2:54687000-54691000	Weak transcription	HUVEC	blood vessel
39	chr2:54687000-54691800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr2:54687000-54700800	Weak transcription	Brain Germinal Matrix	brain
41	chr2:54687200-54692400	Weak transcription	A549	lung
42	chr2:54687400-54688600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:54687400-54690200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:54687600-54692200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:54687600-54696800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:54687800-54688600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:54687800-54688600	Weak transcription	Fetal Lung	lung
48	chr2:54687800-54688600	Weak transcription	NHLF	lung
49	chr2:54687800-54688800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:54687800-54688800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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