Variant report

Variant	rs60300552
Chromosome Location	chr4:119230529-119230530
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	chr4:119201136..119203299-chr4:119229630..119231943,2	MCF-7	breast:
2	chr4:119201990..119204479-chr4:119229684..119234050,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11929737	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11929897	1.00[AMR][1000 genomes]
rs11933005	1.00[AMR][1000 genomes]
rs11933355	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11934022	0.85[AFR][1000 genomes]
rs11935046	1.00[AMR][1000 genomes]
rs11940720	1.00[AMR][1000 genomes]
rs11942152	1.00[AMR][1000 genomes]
rs11943179	1.00[AMR][1000 genomes]
rs11946580	1.00[AMR][1000 genomes]
rs17049757	1.00[AMR][1000 genomes]
rs1913579	1.00[AMR][1000 genomes]
rs34131974	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4001513	1.00[AMR][1000 genomes]
rs57651227	1.00[AMR][1000 genomes]
rs57722764	0.80[AFR][1000 genomes]
rs60355085	0.80[AFR][1000 genomes]
rs7670243	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7670397	0.85[AFR][1000 genomes]
rs9685569	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119202800-119267200	Weak transcription	Stomach Mucosa	stomach
2	chr4:119209600-119258600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:119210000-119259200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:119210200-119258600	Weak transcription	HMEC	breast
5	chr4:119212600-119259200	Weak transcription	NHEK	skin
6	chr4:119213000-119240600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:119216400-119234200	Weak transcription	NHLF	lung
8	chr4:119216400-119249800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:119216600-119244000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:119217400-119243400	Weak transcription	Fetal Lung	lung
11	chr4:119217600-119233400	Weak transcription	NHDF-Ad	bronchial
12	chr4:119220200-119234200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:119220200-119240200	Weak transcription	Osteobl	bone
14	chr4:119220200-119260000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr4:119226600-119230800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:119227400-119236000	Weak transcription	Pancreas	Pancrea
17	chr4:119227800-119234400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:119229000-119267200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:119229200-119233400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:119229200-119235600	Weak transcription	Gastric	stomach
21	chr4:119229800-119234200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:119229800-119234400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:119230000-119233000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:119230400-119230800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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