Variant report

Variant	rs551480570
Chromosome Location	chr3:111593795-111593796
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	chr3:111589933..111591550-chr3:111593680..111595184,2	MCF-7	breast:
2	chr3:111581231..111584187-chr3:111592422..111594692,2	MCF-7	breast:

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv829676	chr3:111464087-111619200	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv980070	chr3:111592547-111602240	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111581400-111593800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr3:111584600-111603400	Weak transcription	Fetal Intestine Large	intestine
3	chr3:111585200-111622000	Weak transcription	HSMMtube	muscle
4	chr3:111585400-111603400	Weak transcription	Spleen	Spleen
5	chr3:111585400-111609000	Weak transcription	Esophagus	oesophagus
6	chr3:111587200-111597200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:111587200-111603000	Weak transcription	Placenta	Placenta
8	chr3:111587800-111599200	Weak transcription	Liver	Liver
9	chr3:111588000-111593800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:111589200-111598400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:111589200-111603400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:111589800-111603400	Weak transcription	Pancreas	Pancrea
13	chr3:111590800-111593800	Enhancers	Colon Smooth Muscle	Colon
14	chr3:111591000-111593800	Enhancers	Fetal Stomach	stomach
15	chr3:111591200-111593800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:111591400-111593800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:111591400-111594000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:111591400-111598400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr3:111591600-111593800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:111591600-111598400	Weak transcription	Right Atrium	heart
21	chr3:111591600-111603200	Weak transcription	Ovary	ovary
22	chr3:111591600-111603600	Weak transcription	HepG2	liver
23	chr3:111591600-111610600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:111591600-111633200	Weak transcription	Fetal Kidney	kidney
25	chr3:111591800-111594000	Enhancers	Osteobl	bone
26	chr3:111592200-111593800	Enhancers	HUVEC	blood vessel
27	chr3:111592400-111593800	Enhancers	Hela-S3	cervix
28	chr3:111592400-111594000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:111592400-111594000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr3:111592400-111594200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr3:111592600-111593800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr3:111592600-111593800	Enhancers	NHDF-Ad	bronchial
33	chr3:111592800-111593800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:111592800-111593800	Enhancers	Placenta Amnion	Placenta Amnion
35	chr3:111593000-111593800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:111593000-111594400	Enhancers	HMEC	breast
37	chr3:111593200-111593800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr3:111593200-111593800	Transcr. at gene 5' and 3'	NHEK	skin
39	chr3:111593200-111593800	Enhancers	NHLF	lung
40	chr3:111593400-111593800	Enhancers	A549	lung
41	chr3:111593400-111599600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr3:111593400-111601400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr3:111593600-111593800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:111593600-111593800	Enhancers	NH-A	brain
45	chr3:111593600-111594200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:111593600-111594400	Weak transcription	Right Ventricle	heart
47	chr3:111593600-111598200	Weak transcription	Adipose Nuclei	Adipose
48	chr3:111593600-111598800	Weak transcription	Aorta	Aorta
49	chr3:111593600-111599000	Weak transcription	Left Ventricle	heart
50	chr3:111593600-111599200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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