Variant report

Variant	rs1453088
Chromosome Location	chr2:11072992-11072993
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11057377..11060185-chr2:11071124..11073413,3	MCF-7	breast:
2	chr2:11051873..11054967-chr2:11069156..11073328,3	MCF-7	breast:
3	chr2:11070868..11073523-chr2:11073573..11076580,4	MCF-7	breast:
4	chr2:11063730..11067649-chr2:11070741..11076086,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162975	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12692423	0.90[ASN][1000 genomes]
rs12692424	0.87[ASN][1000 genomes]
rs1453087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17365719	0.94[ASN][1000 genomes]
rs930763	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580969	chr2:11033567-11081645	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
2	nsv833392	chr2:11054580-11235239	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv817618	chr2:11055298-11075754	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv469438	chr2:11055298-11085744	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	nsv580970	chr2:11055298-11085744	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv523537	chr2:11061156-11075317	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11065200-11074600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:11066800-11075400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:11070400-11073600	Enhancers	Fetal Brain Male	brain
4	chr2:11070600-11073600	Enhancers	NHLF	lung
5	chr2:11070600-11074200	Enhancers	NHDF-Ad	bronchial
6	chr2:11070600-11078400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:11070800-11073600	Enhancers	Hela-S3	cervix
8	chr2:11070800-11074000	Enhancers	Osteobl	bone
9	chr2:11070800-11077000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:11070800-11077600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:11071000-11074600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:11071000-11075000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:11071000-11076200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:11071200-11073200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:11071200-11073400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:11071200-11073400	Enhancers	NH-A	brain
17	chr2:11071200-11074800	Weak transcription	Brain Germinal Matrix	brain
18	chr2:11071400-11075200	Enhancers	A549	lung
19	chr2:11071600-11073400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr2:11071800-11074400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:11071800-11076400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:11072000-11073400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:11072000-11074000	Enhancers	Fetal Muscle Leg	muscle
24	chr2:11072200-11073200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr2:11072200-11073400	Enhancers	Fetal Muscle Trunk	muscle
26	chr2:11072200-11073600	Enhancers	Fetal Kidney	kidney
27	chr2:11072200-11073600	Enhancers	HUVEC	blood vessel
28	chr2:11072200-11075000	Weak transcription	Spleen	Spleen
29	chr2:11072400-11073200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr2:11072400-11073400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:11072400-11073600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr2:11072400-11073800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:11072400-11073800	Bivalent Enhancer	Fetal Stomach	stomach
34	chr2:11072400-11077400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:11072600-11073200	Bivalent Enhancer	Placenta	Placenta
36	chr2:11072600-11073400	Enhancers	Left Ventricle	heart
37	chr2:11072600-11073600	Enhancers	Fetal Lung	lung
38	chr2:11072600-11074600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:11072800-11073000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr2:11072800-11073000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:11072800-11073200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr2:11072800-11076600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:11072800-11077000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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