Variant report

Variant	rs1282980
Chromosome Location	chr3:111572321-111572322
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10212121	1.00[JPT][hapmap]
rs1021706	0.96[EUR][1000 genomes]
rs10934112	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs10934116	0.85[CEU][hapmap];0.97[EUR][1000 genomes]
rs1282975	0.90[CEU][hapmap];0.96[EUR][1000 genomes]
rs1282977	0.89[CEU][hapmap];0.96[EUR][1000 genomes]
rs1282978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1282981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1282984	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1282992	0.96[EUR][1000 genomes]
rs13063198	0.96[EUR][1000 genomes]
rs17490346	0.90[CEU][hapmap];0.96[EUR][1000 genomes]
rs1913495	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs3925082	0.90[EUR][1000 genomes]
rs4682318	0.88[EUR][1000 genomes]
rs60787620	0.89[EUR][1000 genomes]
rs9847568	0.90[EUR][1000 genomes]
rs9854765	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs9869555	0.88[EUR][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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111541200-111577600	Weak transcription	Pancreas	Pancrea
2	chr3:111563000-111577400	Weak transcription	HepG2	liver
3	chr3:111566200-111577400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:111567800-111577400	Weak transcription	Liver	Liver
5	chr3:111567800-111577400	Weak transcription	NHDF-Ad	bronchial
6	chr3:111570000-111572400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:111570200-111572400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:111570200-111572600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:111570200-111574400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:111570400-111577600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr3:111570600-111572800	Enhancers	Fetal Intestine Small	intestine
12	chr3:111570600-111572800	Enhancers	Rectal Smooth Muscle	rectum
13	chr3:111570600-111575400	Weak transcription	Small Intestine	intestine
14	chr3:111570800-111572600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:111570800-111575800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:111570800-111577400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr3:111571000-111574000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr3:111571000-111577400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:111571200-111572400	Weak transcription	Fetal Muscle Leg	muscle
20	chr3:111571200-111573000	Weak transcription	Placenta	Placenta
21	chr3:111571200-111575000	Enhancers	Fetal Intestine Large	intestine
22	chr3:111571200-111577400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:111571200-111577400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr3:111571400-111572400	Enhancers	Colon Smooth Muscle	Colon
25	chr3:111571400-111572400	Enhancers	Duodenum Mucosa	Duodenum
26	chr3:111571400-111572400	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr3:111571600-111572400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:111571600-111573800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:111571600-111575400	Weak transcription	Right Ventricle	heart
30	chr3:111571600-111577400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr3:111571600-111577400	Weak transcription	HMEC	breast
32	chr3:111571600-111577400	Weak transcription	HSMM	muscle
33	chr3:111571600-111577400	Weak transcription	NHLF	lung
34	chr3:111571800-111572400	Enhancers	Fetal Kidney	kidney
35	chr3:111571800-111572400	Enhancers	Stomach Smooth Muscle	stomach
36	chr3:111571800-111573800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:111571800-111573800	Weak transcription	Fetal Heart	heart
38	chr3:111571800-111575000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:111571800-111575400	Weak transcription	Adipose Nuclei	Adipose
40	chr3:111571800-111576400	Weak transcription	NH-A	brain
41	chr3:111571800-111577200	Weak transcription	Hela-S3	cervix
42	chr3:111571800-111577400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr3:111571800-111577400	Weak transcription	A549	lung
44	chr3:111572000-111572600	Enhancers	HUVEC	blood vessel
45	chr3:111572000-111574000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr3:111572000-111575000	Weak transcription	NHEK	skin
47	chr3:111572200-111577400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr3:111572200-111577400	Weak transcription	Osteobl	bone

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