Variant report

Variant	rs28612367
Chromosome Location	chr4:129446308-129446309
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:129431000..129433214-chr4:129445152..129447888,2	MCF-7	breast:
2	chr4:129375149..129377184-chr4:129445453..129446984,2	MCF-7	breast:
3	chr4:129443916..129449166-chr4:129482334..129486119,6	MCF-7	breast:
4	chr4:129445729..129448146-chr4:129730722..129732888,3	MCF-7	breast:
5	chr4:129444037..129452105-chr4:129473073..129478954,15	MCF-7	breast:
6	chr4:129209851..129212026-chr4:129445619..129448171,2	MCF-7	breast:
7	chr4:129445982..129449153-chr4:129476591..129479369,3	MCF-7	breast:
8	chr4:129445846..129447504-chr4:129730379..129732536,2	MCF-7	breast:
9	chr4:129304978..129307825-chr4:129445122..129446888,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251432	Chromatin interaction
ENSG00000273077	Chromatin interaction
ENSG00000164040	Chromatin interaction
ENSG00000077684	Chromatin interaction

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

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

rs_ID	r²[population]
rs10020418	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10025252	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1216403	1.00[AMR][1000 genomes]
rs17013309	1.00[AMR][1000 genomes]
rs28422810	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28670624	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28689154	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60266924	1.00[AMR][1000 genomes]
rs60416613	1.00[AMR][1000 genomes]
rs6835797	1.00[AMR][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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129437600-129447400	Enhancers	HUVEC	blood vessel
2	chr4:129439200-129449400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:129439200-129450000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:129439800-129446800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:129440200-129450000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr4:129440400-129450000	Weak transcription	Fetal Stomach	stomach
7	chr4:129441000-129450000	Weak transcription	Ovary	ovary
8	chr4:129441200-129450000	Weak transcription	Psoas Muscle	Psoas
9	chr4:129442600-129446800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr4:129443200-129446800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:129443200-129446800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:129443400-129446800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:129443400-129446800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:129443400-129450000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:129443600-129446800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:129443600-129447200	Weak transcription	Fetal Heart	heart
17	chr4:129443600-129448600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:129443600-129450200	Weak transcription	Lung	lung
19	chr4:129444000-129446600	Weak transcription	K562	blood
20	chr4:129444000-129449000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr4:129444800-129447400	Enhancers	Hela-S3	cervix
22	chr4:129444800-129450000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr4:129444800-129451000	Enhancers	HSMM	muscle
24	chr4:129444800-129451000	Enhancers	Osteobl	bone
25	chr4:129445000-129446800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:129445000-129447800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:129445000-129451000	Enhancers	NHDF-Ad	bronchial
28	chr4:129445200-129446400	Enhancers	Adipose Nuclei	Adipose
29	chr4:129445200-129446400	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr4:129445200-129446800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:129445200-129447000	Enhancers	Placenta	Placenta
32	chr4:129445200-129447600	Enhancers	NH-A	brain
33	chr4:129445200-129448000	Enhancers	Stomach Mucosa	stomach
34	chr4:129445200-129448000	Enhancers	HMEC	breast
35	chr4:129445200-129448000	Enhancers	HSMMtube	muscle
36	chr4:129445200-129448000	Enhancers	NHEK	skin
37	chr4:129445200-129448200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:129445200-129448600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:129445200-129451000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:129445400-129447400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:129445400-129447400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:129445400-129447400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:129445400-129447400	Enhancers	Fetal Muscle Leg	muscle
44	chr4:129445400-129447600	Enhancers	NHLF	lung
45	chr4:129445400-129447800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:129445600-129446400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:129445600-129446400	Enhancers	Esophagus	oesophagus
48	chr4:129445600-129446600	Enhancers	Fetal Muscle Trunk	muscle
49	chr4:129445600-129446800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:129445600-129446800	Enhancers	Pancreas	Pancrea

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