Variant report

Variant	rs72928249
Chromosome Location	chr4:129349425-129349426
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129348121..129350215-chr4:129374648..129376621,2	MCF-7	breast:
2	chr4:129348880..129349601-chr4:129730054..129731203,4	MCF-7	breast:
3	chr4:129207167..129209345-chr4:129349395..129351432,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LARP1B-1	chr4:129349225-129349453	ENSG00000251432
2	lnc-LARP1B-1	chr4:129349183-129349453	NONHSAT098267

Variant related genes	Relation type
ENSG00000077684	Chromatin interaction
ENSG00000251432	Chromatin interaction
ENSG00000164040	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17013164	0.82[EUR][1000 genomes]
rs34613566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59150919	0.82[EUR][1000 genomes]
rs60668559	0.82[EUR][1000 genomes]
rs6850541	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72928256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7655383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7694151	0.82[EUR][1000 genomes]
rs7694390	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7698342	1.00[EUR][1000 genomes];1.00[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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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 target site	79 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129348400-129349600	Enhancers	HSMM	muscle
2	chr4:129348600-129349600	Enhancers	Fetal Heart	heart
3	chr4:129348600-129349600	Enhancers	Placenta	Placenta
4	chr4:129348600-129349600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr4:129348600-129349600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr4:129348600-129349600	Enhancers	Hela-S3	cervix
7	chr4:129348600-129349600	Enhancers	K562	blood
8	chr4:129348800-129349600	Enhancers	HSMMtube	muscle
9	chr4:129349000-129350000	Enhancers	HepG2	liver
10	chr4:129349000-129352000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:129349200-129349600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:129349200-129349600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:129349200-129349600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:129349200-129349600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:129349200-129349600	Active TSS	Adipose Nuclei	Adipose
16	chr4:129349200-129349600	Active TSS	Esophagus	oesophagus
17	chr4:129349200-129349600	Active TSS	Left Ventricle	heart
18	chr4:129349200-129349600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr4:129349200-129349600	Flanking Active TSS	HMEC	breast
20	chr4:129349200-129349600	Enhancers	NH-A	brain
21	chr4:129349200-129349600	Enhancers	NHDF-Ad	bronchial
22	chr4:129349200-129349600	Flanking Active TSS	NHEK	skin
23	chr4:129349200-129350000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:129349200-129350000	Active TSS	Right Atrium	heart
25	chr4:129349200-129350200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:129349400-129349600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:129349400-129349600	Active TSS	Pancreas	Pancrea
28	chr4:129349400-129350000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:129349400-129350400	Weak transcription	Liver	Liver
30	chr4:129349400-129351200	Active TSS	A549	lung

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