Variant report

Variant	rs4308247
Chromosome Location	chr3:111468298-111468299
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10934102	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10934103	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13071304	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13085147	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13090883	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17423699	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17424287	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34307743	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34444935	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3922703	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs3922705	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4234403	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs4234405	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4277659	1.00[YRI][hapmap]
rs4349472	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes]
rs4373040	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4405880	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4416359	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4429600	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs4438630	0.98[EUR][1000 genomes]
rs4464420	1.00[YRI][hapmap]
rs4546124	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes]
rs4603931	1.00[YRI][hapmap]
rs4642091	0.89[CEU][hapmap];0.98[EUR][1000 genomes]
rs4645114	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes]
rs4682058	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4682059	0.80[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4682060	0.89[CEU][hapmap];0.98[EUR][1000 genomes]
rs4682061	0.98[EUR][1000 genomes]
rs4682304	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4682306	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4682307	0.85[CEU][hapmap];0.98[EUR][1000 genomes]
rs4682308	0.88[CEU][hapmap];0.98[EUR][1000 genomes]
rs4682309	0.89[EUR][1000 genomes]
rs4682311	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4682315	0.96[EUR][1000 genomes]
rs6438005	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66499316	0.96[EUR][1000 genomes]
rs6762439	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6763624	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes]
rs6768626	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6777990	0.96[EUR][1000 genomes]
rs6780845	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6782894	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs6786443	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes]
rs6791845	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs6804906	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6807045	0.89[CEU][hapmap];0.98[EUR][1000 genomes]
rs68097220	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7632963	0.98[EUR][1000 genomes]
rs7633037	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7637178	0.88[CEU][hapmap];0.98[EUR][1000 genomes]
rs7640556	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7641533	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9288929	0.98[EUR][1000 genomes]
rs9631450	0.89[CEU][hapmap];0.98[EUR][1000 genomes]
rs9850851	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9968124	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111463000-111469600	Weak transcription	Adipose Nuclei	Adipose
2	chr3:111465000-111469200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:111465200-111468400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr3:111465400-111469600	Weak transcription	A549	lung
5	chr3:111465400-111470400	Weak transcription	Hela-S3	cervix
6	chr3:111466200-111471400	Enhancers	NHEK	skin
7	chr3:111466400-111469400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr3:111466400-111469600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:111466400-111471200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:111466400-111471400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:111466600-111471000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:111466800-111471200	Enhancers	HSMM	muscle
13	chr3:111467000-111469000	Enhancers	Fetal Kidney	kidney
14	chr3:111467200-111468800	Weak transcription	NHDF-Ad	bronchial
15	chr3:111467200-111469600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:111467200-111470600	Weak transcription	Small Intestine	intestine
17	chr3:111467400-111468400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:111467400-111468400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:111467400-111468400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr3:111467400-111468400	Weak transcription	HMEC	breast
21	chr3:111467400-111468600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:111467400-111468800	Weak transcription	Liver	Liver
23	chr3:111467400-111469000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:111467400-111470200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr3:111467400-111470600	Weak transcription	NH-A	brain
26	chr3:111467400-111470800	Weak transcription	Stomach Mucosa	stomach
27	chr3:111467800-111469400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:111467800-111469400	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr3:111467800-111469400	Weak transcription	Fetal Muscle Leg	muscle
30	chr3:111467800-111469600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr3:111467800-111471400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr3:111468000-111468400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:111468000-111468400	Active TSS	Stomach Smooth Muscle	stomach
34	chr3:111468000-111469000	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr3:111468000-111471200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr3:111468000-111471400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr3:111468000-111471400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr3:111468200-111468400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:111468200-111468800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:111468200-111468800	Enhancers	Fetal Lung	lung
41	chr3:111468200-111469000	Enhancers	Brain Anterior Caudate	brain
42	chr3:111468200-111469000	Enhancers	Brain Substantia Nigra	brain
43	chr3:111468200-111469000	Enhancers	Colon Smooth Muscle	Colon
44	chr3:111468200-111469800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:111468200-111471200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:111468200-111471200	Enhancers	Osteobl	bone
47	chr3:111468200-111471400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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