Variant report

Variant	rs11944593
Chromosome Location	chr4:121775249-121775250
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	chr4:121769272..121771821-chr4:121774320..121777055,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13108542	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17051272	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17051273	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17417539	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs186905	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3114954	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3115310	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34371247	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34698926	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35774122	0.84[EUR][1000 genomes]
rs56235391	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62323161	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7663276	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7663873	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7681598	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7687183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1013704	chr4:121657648-121791601	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121756800-121779800	Weak transcription	Aorta	Aorta
2	chr4:121759600-121775400	Weak transcription	Gastric	stomach
3	chr4:121760400-121775800	Weak transcription	Lung	lung
4	chr4:121761200-121778200	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:121761200-121783600	Weak transcription	Pancreas	Pancrea
6	chr4:121761400-121777600	Weak transcription	Left Ventricle	heart
7	chr4:121763400-121778800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:121763600-121776600	Weak transcription	Fetal Stomach	stomach
9	chr4:121763800-121776600	Weak transcription	Fetal Heart	heart
10	chr4:121765800-121786600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:121766000-121776600	Weak transcription	Fetal Intestine Small	intestine
12	chr4:121766000-121786600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:121766200-121790800	Weak transcription	Ovary	ovary
14	chr4:121766400-121776600	Weak transcription	Fetal Intestine Large	intestine
15	chr4:121769000-121779600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:121769200-121779600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr4:121771000-121777000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:121771400-121781200	Weak transcription	HSMM	muscle
19	chr4:121771600-121783200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:121771800-121779600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:121771800-121786800	Weak transcription	Fetal Lung	lung
22	chr4:121774400-121776800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:121774400-121780400	Enhancers	NHDF-Ad	bronchial
24	chr4:121774800-121775400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr4:121774800-121775600	Enhancers	Osteobl	bone
26	chr4:121774800-121778600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:121774800-121778600	Weak transcription	NHLF	lung
28	chr4:121775200-121775400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:121775200-121779200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:121775200-121790800	Weak transcription	Fetal Kidney	kidney

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