Variant report

Variant	rs56695231
Chromosome Location	chr22:28447442-28447443
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	chr22:28446750..28449542-chr22:29186576..29188536,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11912165	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2064360	0.89[ASN][1000 genomes]
rs2294969	0.89[ASN][1000 genomes]
rs5752679	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs5752687	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs5752690	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762446	0.90[ASN][1000 genomes]
rs5762449	0.97[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs5762474	0.97[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs5762478	0.89[ASN][1000 genomes]
rs5762492	0.82[ASN][1000 genomes]
rs5762495	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs5762498	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs5762504	0.86[ASN][1000 genomes]
rs5762508	0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28431200-28449600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr22:28431200-28459600	Weak transcription	Aorta	Aorta
3	chr22:28431600-28447600	Weak transcription	Fetal Brain Female	brain
4	chr22:28432000-28447600	Weak transcription	Fetal Brain Male	brain
5	chr22:28432000-28469000	Weak transcription	Primary T cells from cord blood	blood
6	chr22:28439600-28449800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr22:28439800-28450000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr22:28440000-28447800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr22:28440000-28450000	Weak transcription	Ovary	ovary
10	chr22:28440200-28449200	Weak transcription	Colon Smooth Muscle	Colon
11	chr22:28440200-28449800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr22:28440200-28450000	Weak transcription	NHDF-Ad	bronchial
13	chr22:28440400-28449400	Weak transcription	NHLF	lung
14	chr22:28441000-28452200	Weak transcription	Fetal Intestine Large	intestine
15	chr22:28441400-28448200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr22:28443800-28447600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:28443800-28459200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr22:28444200-28448200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr22:28444400-28458800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr22:28444600-28448600	Weak transcription	Fetal Kidney	kidney
21	chr22:28444600-28448800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr22:28444600-28449000	Weak transcription	Adipose Nuclei	Adipose
23	chr22:28444600-28449800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr22:28445200-28447800	Weak transcription	Stomach Mucosa	stomach
25	chr22:28445200-28462200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr22:28445200-28470400	Weak transcription	Pancreas	Pancrea
27	chr22:28445400-28459200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr22:28445400-28470800	Weak transcription	Lung	lung
29	chr22:28445600-28447800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr22:28445800-28448200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr22:28445800-28462800	Weak transcription	Left Ventricle	heart
32	chr22:28446200-28447600	Weak transcription	Fetal Stomach	stomach
33	chr22:28446200-28458000	Weak transcription	Fetal Intestine Small	intestine
34	chr22:28446200-28467800	Weak transcription	Fetal Muscle Leg	muscle
35	chr22:28446400-28454000	Weak transcription	Dnd41	blood
36	chr22:28447000-28448600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr22:28447000-28449200	Enhancers	Fetal Lung	lung
38	chr22:28447200-28447600	Flanking Active TSS	HUVEC	blood vessel
39	chr22:28447200-28449800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr22:28447400-28448400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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