Variant report

Variant	rs57880779
Chromosome Location	chr3:100487170-100487171
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	chr3:100476994..100479281-chr3:100486300..100488381,2	K562	blood:
2	chr3:100477781..100481491-chr3:100485242..100489259,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs57808154	1.00[AFR][1000 genomes]
rs58073790	1.00[AFR][1000 genomes]
rs58285457	0.88[AFR][1000 genomes]
rs59374249	1.00[AFR][1000 genomes]
rs60130421	1.00[AFR][1000 genomes]
rs60359060	1.00[AFR][1000 genomes]
rs72915270	0.88[AFR][1000 genomes]
rs72915287	0.88[AFR][1000 genomes]
rs72915299	0.88[AFR][1000 genomes]
rs72917322	0.88[AFR][1000 genomes]
rs72919404	1.00[AFR][1000 genomes]
rs72919406	1.00[AFR][1000 genomes]
rs72919437	1.00[AFR][1000 genomes]
rs72928653	1.00[AFR][1000 genomes]
rs72928666	1.00[AFR][1000 genomes]
rs72928670	1.00[AFR][1000 genomes]
rs72928695	1.00[AFR][1000 genomes]
rs72928994	1.00[AFR][1000 genomes]
rs72930632	1.00[AFR][1000 genomes]
rs72930643	0.94[AFR][1000 genomes]
rs72930646	0.94[AFR][1000 genomes]
rs72930656	1.00[AFR][1000 genomes]
rs72930658	1.00[AFR][1000 genomes]
rs72930661	1.00[AFR][1000 genomes]
rs72930666	1.00[AFR][1000 genomes]
rs72930674	0.89[AFR][1000 genomes]
rs72930685	1.00[AFR][1000 genomes]
rs72930686	1.00[AFR][1000 genomes]
rs72930687	1.00[AFR][1000 genomes]
rs72930720	1.00[AFR][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	esv2751972	chr3:100342493-100493062	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv432469	chr3:100342493-100493062	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100450000-100501000	Weak transcription	Esophagus	oesophagus
2	chr3:100467400-100497600	Weak transcription	Fetal Intestine Small	intestine
3	chr3:100468200-100488600	Weak transcription	Colon Smooth Muscle	Colon
4	chr3:100469800-100498200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:100469800-100501400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:100470200-100498400	Weak transcription	Right Ventricle	heart
7	chr3:100471000-100495800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:100471600-100500400	Weak transcription	Lung	lung
9	chr3:100471800-100494600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:100471800-100502000	Weak transcription	Brain Anterior Caudate	brain
11	chr3:100472800-100494400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:100473400-100488400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:100473600-100488600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr3:100473600-100488800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr3:100473600-100489200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr3:100473800-100496400	Weak transcription	Fetal Intestine Large	intestine
17	chr3:100474000-100488800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:100474400-100494200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr3:100474400-100500200	Weak transcription	HSMM	muscle
20	chr3:100474400-100501200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:100475000-100488000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:100475000-100499000	Weak transcription	Placenta	Placenta
23	chr3:100475600-100487600	Weak transcription	NHDF-Ad	bronchial
24	chr3:100475600-100520000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr3:100478400-100496600	Weak transcription	Aorta	Aorta
26	chr3:100478800-100502000	Weak transcription	Psoas Muscle	Psoas
27	chr3:100479000-100488600	Weak transcription	Fetal Stomach	stomach
28	chr3:100479400-100488000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:100479400-100493000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr3:100479800-100488600	Weak transcription	Fetal Lung	lung
31	chr3:100480200-100493800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:100480400-100488400	Weak transcription	Fetal Muscle Leg	muscle
33	chr3:100480400-100488600	Weak transcription	Ovary	ovary
34	chr3:100483400-100487600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr3:100485200-100487800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:100485200-100488600	Weak transcription	HSMMtube	muscle
37	chr3:100485600-100487400	Weak transcription	Osteobl	bone
38	chr3:100486000-100489400	Weak transcription	Left Ventricle	heart

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