Variant report

Variant	rs1282996
Chromosome Location	chr3:111582050-111582051
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:111579110..111581393-chr3:111581603..111584247,2	MCF-7	breast:
2	chr17:57914576..57917044-chr3:111580672..111583133,2	MCF-7	breast:
3	chr3:111581231..111584187-chr3:111592422..111594692,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000062716	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1039309	0.85[AFR][1000 genomes]
rs1282979	1.00[AMR][1000 genomes]
rs1282999	1.00[AMR][1000 genomes]
rs937555	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111579400-111585000	Weak transcription	Gastric	stomach
2	chr3:111579600-111584800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:111579800-111582400	Weak transcription	Small Intestine	intestine
4	chr3:111579800-111584400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:111579800-111588400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:111579800-111589000	Weak transcription	Pancreas	Pancrea
7	chr3:111580000-111589200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:111580200-111582200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr3:111580200-111582400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr3:111580200-111582600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr3:111580200-111582800	Weak transcription	Fetal Intestine Large	intestine
12	chr3:111580400-111583000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
13	chr3:111580400-111583200	Enhancers	Duodenum Mucosa	Duodenum
14	chr3:111580400-111583800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:111580400-111583800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:111580400-111584200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:111580400-111584600	Enhancers	HepG2	liver
18	chr3:111580600-111582200	Enhancers	Placenta	Placenta
19	chr3:111580600-111582200	Enhancers	Right Atrium	heart
20	chr3:111580600-111582600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:111580600-111583000	Weak transcription	Ovary	ovary
22	chr3:111580600-111583200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
23	chr3:111580600-111583600	Enhancers	A549	lung
24	chr3:111580600-111584000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:111580600-111584200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr3:111580600-111584200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
27	chr3:111580600-111584600	Enhancers	Fetal Stomach	stomach
28	chr3:111580600-111585800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr3:111580800-111582200	Enhancers	Fetal Muscle Leg	muscle
30	chr3:111580800-111583200	Enhancers	HUVEC	blood vessel
31	chr3:111580800-111583400	Weak transcription	Fetal Kidney	kidney
32	chr3:111580800-111583400	Weak transcription	NHLF	lung
33	chr3:111580800-111583600	Weak transcription	Fetal Intestine Small	intestine
34	chr3:111580800-111584600	Enhancers	NHDF-Ad	bronchial
35	chr3:111580800-111584800	Enhancers	Liver	Liver
36	chr3:111580800-111585200	Enhancers	HMEC	breast
37	chr3:111581000-111583600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr3:111581000-111584000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:111581200-111582200	Flanking Active TSS	Osteobl	bone
40	chr3:111581200-111583000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:111581200-111583000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:111581200-111584000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:111581400-111582200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr3:111581400-111582200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:111581400-111583600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:111581400-111584000	Enhancers	Rectal Smooth Muscle	rectum
47	chr3:111581400-111584800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:111581400-111586000	Enhancers	Placenta Amnion	Placenta Amnion
49	chr3:111581400-111593800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr3:111581600-111582200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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