Variant report

Variant	rs58762227
Chromosome Location	chr4:148724146-148724147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148722956..148724829-chr4:148728693..148731642,2	MCF-7	breast:
2	chr4:148722709..148724828-chr4:148742107..148743929,2	MCF-7	breast:
3	chr4:148706652..148708945-chr4:148723113..148725039,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240014	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10001327	0.88[ASN][1000 genomes]
rs10519917	0.91[ASN][1000 genomes]
rs1119887	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935450	0.91[ASN][1000 genomes]
rs11935510	0.91[ASN][1000 genomes]
rs11935620	0.91[ASN][1000 genomes]
rs11940379	0.91[ASN][1000 genomes]
rs17023844	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17023845	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17023846	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17023870	0.91[ASN][1000 genomes]
rs2134707	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs55714518	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58068435	0.88[ASN][1000 genomes]
rs58274809	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs59535925	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60042554	0.83[ASN][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	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880242	chr4:148659137-148727355	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148710400-148729600	Weak transcription	HSMM	muscle
2	chr4:148711000-148729200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:148715200-148735200	Weak transcription	Stomach Mucosa	stomach
4	chr4:148716000-148734800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:148716600-148732800	Weak transcription	Fetal Intestine Small	intestine
6	chr4:148720000-148724200	Enhancers	Colon Smooth Muscle	Colon
7	chr4:148720000-148724400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr4:148720400-148729200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:148720600-148729200	Weak transcription	HSMMtube	muscle
10	chr4:148721400-148729200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:148721600-148729200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:148721600-148729200	Weak transcription	Adipose Nuclei	Adipose
13	chr4:148721600-148734400	Weak transcription	Fetal Stomach	stomach
14	chr4:148721600-148737200	Weak transcription	Gastric	stomach
15	chr4:148721800-148729400	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:148721800-148729600	Weak transcription	Pancreas	Pancrea
17	chr4:148721800-148735200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:148721800-148744200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:148722000-148733000	Weak transcription	Esophagus	oesophagus
20	chr4:148722200-148729000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr4:148722200-148729200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr4:148722200-148730000	Weak transcription	Lung	lung
23	chr4:148722800-148724200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr4:148722800-148724400	Enhancers	Fetal Thymus	thymus
25	chr4:148723000-148724200	Enhancers	Right Ventricle	heart
26	chr4:148723000-148724200	Enhancers	Thymus	Thymus
27	chr4:148723000-148724400	Enhancers	Ovary	ovary
28	chr4:148723000-148724400	Enhancers	Psoas Muscle	Psoas
29	chr4:148723600-148724200	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr4:148723600-148724200	Enhancers	Left Ventricle	heart
31	chr4:148723800-148724200	Weak transcription	Right Atrium	heart
32	chr4:148723800-148725000	Weak transcription	Fetal Heart	heart
33	chr4:148723800-148727800	Weak transcription	Aorta	Aorta
34	chr4:148723800-148729000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:148723800-148729000	Weak transcription	GM12878-XiMat	blood
36	chr4:148723800-148729200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:148724000-148729000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr4:148724000-148733400	Weak transcription	Rectal Smooth Muscle	rectum

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