Variant report

Variant	rs1547518
Chromosome Location	chr3:110794258-110794259
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11717706	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11919892	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13060876	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13061640	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13072462	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1382075	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1477841	0.80[AMR][1000 genomes]
rs1477842	0.82[AMR][1000 genomes]
rs1477843	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1477847	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1477854	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1477855	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1585629	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1600059	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1871026	0.91[AFR][1000 genomes]
rs2126710	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2126711	0.94[EUR][1000 genomes]
rs2126712	0.94[EUR][1000 genomes]
rs2126713	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2399373	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2399375	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4682033	0.80[AFR][1000 genomes]
rs4682229	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4682230	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4682231	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4682234	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55774570	0.80[AFR][1000 genomes]
rs56668317	0.80[AFR][1000 genomes]
rs6437947	0.92[AFR][1000 genomes]
rs6437948	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6437952	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6437955	0.80[AMR][1000 genomes]
rs66803420	0.80[AMR][1000 genomes]
rs6765948	0.86[EUR][1000 genomes]
rs6781480	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6790828	0.84[AFR][1000 genomes]
rs7430600	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7612572	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7612667	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7623880	0.80[AFR][1000 genomes]
rs7632375	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7632388	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7653595	0.80[AMR][1000 genomes]
rs9817950	0.81[AFR][1000 genomes]
rs9818950	0.94[EUR][1000 genomes]
rs9821335	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9828899	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9837377	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9847598	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9866028	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9876350	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9877855	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003106	chr3:110264476-111105943	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv1850918	chr3:110685181-110889974	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110788600-110794600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr3:110789200-110794800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:110789600-110794800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:110792200-110794400	Active TSS	Duodenum Mucosa	Duodenum
5	chr3:110792200-110794800	Flanking Active TSS	Dnd41	blood
6	chr3:110792400-110795400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:110792400-110795600	Weak transcription	Small Intestine	intestine
8	chr3:110792600-110800000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:110792600-110802200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:110792600-110803600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:110792800-110795000	Active TSS	Fetal Brain Female	brain
12	chr3:110793000-110794400	Enhancers	Colon Smooth Muscle	Colon
13	chr3:110793000-110794800	Enhancers	Rectal Smooth Muscle	rectum
14	chr3:110793000-110796800	Enhancers	Liver	Liver
15	chr3:110793000-110798400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:110793000-110799200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr3:110793000-110799200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr3:110793000-110799400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:110793200-110794600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr3:110793200-110794800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:110793200-110796800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:110793200-110798800	Weak transcription	HSMM	muscle
23	chr3:110793200-110799400	Weak transcription	Fetal Kidney	kidney
24	chr3:110793200-110799800	Weak transcription	HSMMtube	muscle
25	chr3:110793400-110794800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr3:110793400-110795000	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr3:110793400-110796600	Enhancers	HepG2	liver
28	chr3:110793400-110797200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:110793400-110799800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr3:110793600-110794400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr3:110793600-110794400	Flanking Active TSS	Fetal Lung	lung
32	chr3:110793600-110795200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:110793600-110797400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:110793800-110794400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:110794000-110794400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:110794000-110794600	Enhancers	Fetal Intestine Large	intestine
37	chr3:110794000-110795400	Weak transcription	Fetal Intestine Small	intestine
38	chr3:110794000-110795600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr3:110794000-110797000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:110794000-110798400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr3:110794200-110794400	Flanking Active TSS	Stomach Mucosa	stomach
42	chr3:110794200-110794400	Enhancers	A549	lung
43	chr3:110794200-110794600	Active TSS	NHDF-Ad	bronchial
44	chr3:110794200-110794800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr3:110794200-110794800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr3:110794200-110795000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:110794200-110796400	Weak transcription	NHLF	lung
48	chr3:110794200-110796800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr3:110794200-110797000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr3:110794200-110798400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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