Variant report

Variant	rs4274790
Chromosome Location	chr3:160042096-160042097
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11919703	0.86[EUR][1000 genomes]
rs13314803	0.86[EUR][1000 genomes]
rs28599984	1.00[EUR][1000 genomes]
rs2886772	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6764829	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73875246	0.87[AMR][1000 genomes]
rs9813697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9829578	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9843737	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9845395	1.00[EUR][1000 genomes]
rs9874550	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9879379	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1000453	chr3:159853305-160366357	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
3	nsv536779	chr3:159853305-160366357	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
4	esv1800136	chr3:159950498-160278160	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	esv1801767	chr3:159950498-160279411	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	esv1801474	chr3:160012843-160153305	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	206 gene(s)	inside rSNPs	diseases
7	nsv1008519	chr3:160038710-160292589	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	255 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159975600-160046600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:159977800-160073000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:159997200-160046600	Weak transcription	Fetal Lung	lung
4	chr3:159999800-160047800	Weak transcription	Lung	lung
5	chr3:160010000-160047800	Weak transcription	HepG2	liver
6	chr3:160010000-160048600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:160010000-160048800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:160015000-160044000	Weak transcription	Osteobl	bone
9	chr3:160015400-160048400	Weak transcription	A549	lung
10	chr3:160015800-160048800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:160018000-160048600	Weak transcription	HSMM	muscle
12	chr3:160021200-160043400	Weak transcription	NHDF-Ad	bronchial
13	chr3:160024400-160043400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:160025400-160056000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:160025400-160073000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr3:160025600-160048400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:160025600-160048600	Weak transcription	Brain Substantia Nigra	brain
18	chr3:160025600-160072000	Weak transcription	Thymus	Thymus
19	chr3:160025600-160073200	Weak transcription	Left Ventricle	heart
20	chr3:160026200-160047600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:160029600-160050600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr3:160030200-160056000	Weak transcription	Fetal Stomach	stomach
23	chr3:160033800-160049200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:160033800-160055400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:160034400-160047000	Weak transcription	Ovary	ovary
26	chr3:160034600-160055600	Weak transcription	Fetal Muscle Leg	muscle
27	chr3:160034800-160082800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr3:160037000-160070200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:160037200-160055600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:160037200-160056200	Weak transcription	Primary T cells from cord blood	blood
31	chr3:160037400-160044800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr3:160037400-160048000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr3:160037400-160055800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr3:160037600-160048800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:160037600-160049000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:160037800-160043800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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