Variant report

Variant	rs1443979
Chromosome Location	chr5:119432212-119432213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:119425445..119427707-chr5:119431108..119433766,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1443978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146064	1.00[EUR][1000 genomes]
rs58073762	1.00[EUR][1000 genomes]
rs58154984	1.00[EUR][1000 genomes]
rs58938209	1.00[EUR][1000 genomes]
rs6862077	1.00[EUR][1000 genomes]
rs6893132	1.00[EUR][1000 genomes]
rs6894419	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6895110	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1016271	chr5:118836891-119487982	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1023146	chr5:119301891-119623417	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv537883	chr5:119301891-119623417	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3331559	chr5:119306944-119536554	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv882780	chr5:119332670-119488924	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	esv1827579	chr5:119356669-119435037	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	esv1827829	chr5:119356669-119435037	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	esv1846556	chr5:119356669-119435037	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	esv1849212	chr5:119356669-119435037	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv882781	chr5:119369334-119557828	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv1834575	chr5:119380512-119434193	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv599579	chr5:119380512-119445061	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv1016060	chr5:119393169-119452934	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv537884	chr5:119393169-119452934	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv599600	chr5:119399177-119507243	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv1026457	chr5:119406305-119493661	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	nsv537885	chr5:119406305-119493661	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv1028988	chr5:119407365-119442135	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv432803	chr5:119419101-119659101	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	esv2762547	chr5:119427979-119487383	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119430000-119439200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:119431600-119432800	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr5:119431600-119433200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:119431600-119433400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:119431800-119433000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr5:119432000-119432400	Active TSS	Right Atrium	heart
7	chr5:119432000-119432400	Active TSS	A549	lung
8	chr5:119432000-119433200	Enhancers	Dnd41	blood
9	chr5:119432200-119432400	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr5:119432200-119432400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:119432200-119432400	Enhancers	Liver	Liver
12	chr5:119432200-119432400	Flanking Active TSS	HSMM	muscle
13	chr5:119432200-119432600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:119432200-119432600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:119432200-119432600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:119432200-119432600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr5:119432200-119432600	Active TSS	Adipose Nuclei	Adipose
18	chr5:119432200-119432600	Active TSS	Fetal Lung	lung
19	chr5:119432200-119432600	Active TSS	Psoas Muscle	Psoas
20	chr5:119432200-119432600	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr5:119432200-119432600	Active TSS	HSMMtube	muscle
22	chr5:119432200-119432600	Active TSS	NH-A	brain
23	chr5:119432200-119432600	Active TSS	NHDF-Ad	bronchial
24	chr5:119432200-119432600	Active TSS	NHLF	lung
25	chr5:119432200-119432600	Active TSS	Osteobl	bone
26	chr5:119432200-119432800	Enhancers	Hela-S3	cervix
27	chr5:119432200-119433000	Active TSS	Primary monocytes fromperipheralblood	blood
28	chr5:119432200-119433200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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