Variant report

Variant	rs28524736
Chromosome Location	chr2:153224948-153224949
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	chr2:153194991..153197025-chr2:153223649..153226041,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10171204	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179391	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10195727	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931054	1.00[EUR][1000 genomes]
rs13382410	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13398440	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401202	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13425532	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346199	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434003	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434017	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707033	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6718081	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6718584	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6718773	0.82[EUR][1000 genomes]
rs6733002	1.00[EUR][1000 genomes]
rs6740909	0.81[EUR][1000 genomes]
rs6751151	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr2:153200600-153225600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:153200800-153225800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:153202400-153225600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:153203000-153233000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:153206800-153240800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:153207600-153246400	Weak transcription	Fetal Intestine Small	intestine
7	chr2:153209400-153237000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:153209800-153225200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:153212800-153225600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:153214800-153227600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:153215000-153226000	Weak transcription	Left Ventricle	heart
12	chr2:153216600-153233400	Weak transcription	Fetal Lung	lung
13	chr2:153221800-153229600	Enhancers	HepG2	liver
14	chr2:153222600-153230600	Enhancers	Brain Hippocampus Middle	brain
15	chr2:153223200-153229600	Enhancers	Ovary	ovary
16	chr2:153223400-153225400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:153223400-153227400	Weak transcription	Lung	lung
18	chr2:153223400-153227600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr2:153223400-153227600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:153223400-153237000	Weak transcription	Right Atrium	heart
21	chr2:153223800-153227600	Enhancers	Brain Anterior Caudate	brain
22	chr2:153224000-153226200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:153224000-153227800	Enhancers	NHDF-Ad	bronchial
24	chr2:153224200-153225000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:153224200-153225800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:153224200-153226600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:153224200-153226600	Enhancers	Fetal Kidney	kidney
28	chr2:153224200-153226800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr2:153224200-153226800	Enhancers	NHLF	lung
30	chr2:153224200-153228000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:153224200-153234600	Weak transcription	Adipose Nuclei	Adipose
32	chr2:153224400-153225400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:153224400-153225800	Weak transcription	Psoas Muscle	Psoas
34	chr2:153224400-153226000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:153224400-153226000	Weak transcription	Gastric	stomach
36	chr2:153224400-153226200	Enhancers	Aorta	Aorta
37	chr2:153224600-153225600	Weak transcription	Placenta	Placenta
38	chr2:153224600-153225600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:153224600-153225600	Weak transcription	A549	lung
40	chr2:153224600-153225600	Weak transcription	HMEC	breast
41	chr2:153224600-153225600	Weak transcription	NHEK	skin
42	chr2:153224600-153225800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:153224600-153225800	Weak transcription	Small Intestine	intestine
44	chr2:153224600-153226000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:153224600-153228800	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:153224600-153233000	Weak transcription	Pancreas	Pancrea
47	chr2:153224800-153225000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:153224800-153225200	Weak transcription	Brain Angular Gyrus	brain
49	chr2:153224800-153225400	Weak transcription	Brain Substantia Nigra	brain
50	chr2:153224800-153226000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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