Variant report

Variant	rs28728176
Chromosome Location	chr3:99551839-99551840
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	chr3:99543572..99547778-chr3:99548143..99551852,5	K562	blood:
2	chr3:99550448..99553983-chr3:99555200..99558559,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12330310	0.83[AFR][1000 genomes]
rs13315221	0.83[AFR][1000 genomes]
rs13323384	0.83[AFR][1000 genomes]
rs13353487	0.83[AFR][1000 genomes]
rs16841800	0.83[AFR][1000 genomes]
rs16841824	0.83[AFR][1000 genomes]
rs16841836	0.83[AFR][1000 genomes]
rs28368726	0.83[AFR][1000 genomes]
rs28463921	0.83[AFR][1000 genomes]
rs28508384	0.83[AFR][1000 genomes]
rs28816814	0.83[AFR][1000 genomes]
rs9809706	0.83[AFR][1000 genomes]
rs9810553	0.83[AFR][1000 genomes]
rs9816232	0.83[AFR][1000 genomes]
rs9820799	0.83[AFR][1000 genomes]
rs9824229	0.83[AFR][1000 genomes]
rs9825382	0.83[AFR][1000 genomes]
rs9825938	0.83[AFR][1000 genomes]
rs9828782	0.83[AFR][1000 genomes]
rs9835048	0.83[AFR][1000 genomes]
rs9837028	0.83[AFR][1000 genomes]
rs9837204	0.83[AFR][1000 genomes]
rs9837555	0.83[AFR][1000 genomes]
rs9841053	0.83[AFR][1000 genomes]
rs9841758	0.83[AFR][1000 genomes]
rs9843919	0.83[AFR][1000 genomes]
rs9844578	0.83[AFR][1000 genomes]
rs9844595	0.83[AFR][1000 genomes]
rs9849336	0.83[AFR][1000 genomes]
rs9849373	0.83[AFR][1000 genomes]
rs9851406	0.83[AFR][1000 genomes]
rs9852857	0.83[AFR][1000 genomes]
rs9860986	0.83[AFR][1000 genomes]
rs9862370	0.83[AFR][1000 genomes]
rs9868303	0.83[AFR][1000 genomes]
rs9871500	0.83[AFR][1000 genomes]
rs9875301	0.83[AFR][1000 genomes]
rs9883235	0.83[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	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99537200-99562600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:99537200-99594400	Weak transcription	Esophagus	oesophagus
3	chr3:99537400-99552400	Weak transcription	Ovary	ovary
4	chr3:99537800-99552400	Weak transcription	Pancreas	Pancrea
5	chr3:99537800-99561800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr3:99537800-99562400	Weak transcription	Left Ventricle	heart
7	chr3:99538000-99552000	Weak transcription	Fetal Intestine Small	intestine
8	chr3:99538000-99552400	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:99538000-99556000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr3:99538000-99556800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:99538000-99563600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr3:99538200-99555400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:99538200-99584600	Weak transcription	Primary T cells from cord blood	blood
14	chr3:99540800-99552000	Weak transcription	GM12878-XiMat	blood
15	chr3:99543000-99557200	Weak transcription	Psoas Muscle	Psoas
16	chr3:99543000-99562600	Weak transcription	Placenta	Placenta
17	chr3:99544200-99561800	Weak transcription	NHLF	lung
18	chr3:99544200-99564800	Weak transcription	K562	blood
19	chr3:99544400-99554400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:99544400-99557800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:99544400-99561800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:99544400-99561800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:99544800-99558000	Weak transcription	NHEK	skin
24	chr3:99545000-99557800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:99545000-99558000	Weak transcription	HMEC	breast
26	chr3:99545000-99562000	Weak transcription	HSMM	muscle
27	chr3:99545400-99552200	Weak transcription	Fetal Stomach	stomach
28	chr3:99548000-99552600	Weak transcription	Aorta	Aorta
29	chr3:99549400-99552400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr3:99549400-99556800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr3:99551000-99552000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:99551000-99552000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:99551000-99553000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:99551000-99561800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr3:99551200-99552400	Weak transcription	Fetal Heart	heart
36	chr3:99551200-99555400	Weak transcription	Small Intestine	intestine
37	chr3:99551200-99556000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr3:99551200-99560200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr3:99551200-99566000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr3:99551600-99562600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr3:99551800-99552600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr3:99551800-99552800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:99551800-99552800	Enhancers	HepG2	liver
44	chr3:99551800-99552800	Enhancers	NHDF-Ad	bronchial
45	chr3:99551800-99552800	Enhancers	Osteobl	bone
46	chr3:99551800-99553000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:99551800-99553400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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