Variant report

Variant	rs1282978
Chromosome Location	chr3:111571019-111571020
allele	A/G
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];0.96[TSI][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]
rs1282980	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];1.00[ASN][1000 genomes]
rs1282984	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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[TSI][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:52 , 50 per page) page: 1 2

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	chr3:111563800-111571200	Weak transcription	Stomach Mucosa	stomach
4	chr3:111565000-111571200	Enhancers	Placenta	Placenta
5	chr3:111566000-111571400	Weak transcription	Fetal Heart	heart
6	chr3:111566200-111577400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:111567800-111577400	Weak transcription	Liver	Liver
8	chr3:111567800-111577400	Weak transcription	NHDF-Ad	bronchial
9	chr3:111568000-111571400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr3:111569400-111571800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:111569600-111572200	Enhancers	Osteobl	bone
12	chr3:111570000-111571200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:111570000-111571200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr3:111570000-111571600	Enhancers	HMEC	breast
15	chr3:111570000-111571600	Enhancers	NHLF	lung
16	chr3:111570000-111572000	Enhancers	NHEK	skin
17	chr3:111570000-111572200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:111570000-111572400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:111570200-111571200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:111570200-111571200	Enhancers	A549	lung
21	chr3:111570200-111571600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:111570200-111571800	Enhancers	Adipose Nuclei	Adipose
23	chr3:111570200-111572400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:111570200-111572600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:111570200-111574400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:111570400-111571200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:111570400-111571200	Enhancers	Fetal Muscle Leg	muscle
28	chr3:111570400-111571800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr3:111570400-111571800	Enhancers	Primary T cells from cord blood	blood
30	chr3:111570400-111571800	Enhancers	Primary hematopoietic stem cells	blood
31	chr3:111570400-111577600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr3:111570600-111571200	Enhancers	Right Atrium	heart
33	chr3:111570600-111571400	Enhancers	Stomach Smooth Muscle	stomach
34	chr3:111570600-111571600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr3:111570600-111571800	Enhancers	NH-A	brain
36	chr3:111570600-111572800	Enhancers	Fetal Intestine Small	intestine
37	chr3:111570600-111572800	Enhancers	Rectal Smooth Muscle	rectum
38	chr3:111570600-111575400	Weak transcription	Small Intestine	intestine
39	chr3:111570800-111571200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr3:111570800-111571200	Weak transcription	Fetal Intestine Large	intestine
41	chr3:111570800-111571400	Weak transcription	HSMM	muscle
42	chr3:111570800-111571800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr3:111570800-111572600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:111570800-111575800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr3:111570800-111577400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr3:111571000-111571400	Weak transcription	Right Ventricle	heart
47	chr3:111571000-111571400	Enhancers	HUVEC	blood vessel
48	chr3:111571000-111571600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:111571000-111571800	Weak transcription	Fetal Kidney	kidney
50	chr3:111571000-111571800	Enhancers	Hela-S3	cervix

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