Variant report

Variant	rs28588893
Chromosome Location	chr4:119989149-119989150
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119988837..119992890-chr4:120132998..120134761,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145390	Chromatin interaction
ENSG00000178636	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10033427	1.00[AMR][1000 genomes]
rs17050126	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28595156	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28742042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28790071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28897201	1.00[AFR][1000 genomes];1.00[AMR][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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119967400-119994000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr4:119971000-119989600	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:119975800-119994000	Weak transcription	Right Ventricle	heart
4	chr4:119975800-120003000	Weak transcription	Left Ventricle	heart
5	chr4:119979200-119996400	Weak transcription	Aorta	Aorta
6	chr4:119979400-119989800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:119980600-119994000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr4:119988200-119989400	Active TSS	H1 Cell Line	embryonic stem cell
9	chr4:119988200-119989600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr4:119988200-119989800	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr4:119988400-119989200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:119988400-119989200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:119988400-119989400	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr4:119988400-119989400	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr4:119988400-119989600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:119988400-119989600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr4:119988400-119989600	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr4:119988400-119989600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:119988400-119989800	Enhancers	Placenta	Placenta
20	chr4:119988800-119989200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:119988800-119989200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:119988800-119989200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:119988800-119989200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:119988800-119989200	Active TSS	Duodenum Mucosa	Duodenum
25	chr4:119988800-119989200	Active TSS	Esophagus	oesophagus
26	chr4:119988800-119989200	Active TSS	Pancreas	Pancrea
27	chr4:119988800-119989200	Active TSS	NHEK	skin
28	chr4:119988800-119989800	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr4:119988800-119992200	Enhancers	HepG2	liver
30	chr4:119988800-119992600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:119989000-119989200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:119989000-119989800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:119989000-119989800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr4:119989000-119990200	Enhancers	Rectal Smooth Muscle	rectum

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