Variant report

Variant	rs72999129
Chromosome Location	chr3:145993690-145993691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:145992454..145994295-chr3:145994384..145997157,2	K562	blood:
2	chr3:145986622..145989134-chr3:145993598..145995580,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11919756	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11920604	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11927463	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11928255	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11928534	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11929382	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16858193	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16858200	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35045356	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6440424	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6440425	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6780223	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6780240	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6788357	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6793309	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72997087	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72997096	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72997098	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72999112	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72999115	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72999117	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72999118	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72999119	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72999121	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72999131	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7623124	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7634946	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877614	chr3:145903426-146025896	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3333601	chr3:145940702-146068210	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv3416330	chr3:145941029-146068457	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv998388	chr3:145960954-146087749	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 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	chr3:145983800-145998800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:145991000-145997600	Enhancers	HUVEC	blood vessel
3	chr3:145991800-145993800	Enhancers	Fetal Stomach	stomach
4	chr3:145991800-145994400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:145992000-145994000	Enhancers	Osteobl	bone
6	chr3:145992400-145996200	Weak transcription	Ovary	ovary
7	chr3:145992400-145996400	Weak transcription	Left Ventricle	heart
8	chr3:145992400-145996400	Weak transcription	Right Atrium	heart
9	chr3:145992400-145996400	Weak transcription	NHLF	lung
10	chr3:145992600-145995400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:145992600-145995400	Weak transcription	NHDF-Ad	bronchial
12	chr3:145993000-145994000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:145993000-145995000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr3:145993000-145995400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr3:145993200-145995000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:145993200-145995800	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:145993400-145994000	Enhancers	Aorta	Aorta
18	chr3:145993400-145994600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:145993400-145995000	Weak transcription	Fetal Lung	lung
20	chr3:145993600-145994800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:145993600-145994800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:145993600-145995000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:145993600-145995000	Weak transcription	Fetal Muscle Leg	muscle
24	chr3:145993600-145996200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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