Variant report

Variant	rs2012345
Chromosome Location	chr4:87826244-87826245
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10026594	0.91[EUR][1000 genomes]
rs11097125	0.97[ASN][1000 genomes]
rs12503045	0.97[ASN][1000 genomes]
rs12507165	0.95[ASN][1000 genomes]
rs12641570	0.97[ASN][1000 genomes]
rs1374935	0.91[ASN][1000 genomes]
rs1868244	0.97[ASN][1000 genomes]
rs2594274	0.97[ASN][1000 genomes]
rs2594283	0.86[ASN][1000 genomes]
rs2705629	0.95[ASN][1000 genomes]
rs2904148	0.95[ASN][1000 genomes]
rs2904150	0.92[ASN][1000 genomes]
rs4235082	0.97[ASN][1000 genomes]
rs55889191	0.87[ASN][1000 genomes]
rs56062410	0.81[ASN][1000 genomes]
rs67758970	0.97[ASN][1000 genomes]
rs6843070	0.98[ASN][1000 genomes]
rs7657530	0.80[AMR][1000 genomes];0.92[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	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv508297	chr4:87778783-87868508	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87814200-87829400	Weak transcription	K562	blood
2	chr4:87814600-87830000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:87822400-87829800	Weak transcription	Placenta	Placenta
4	chr4:87825600-87829000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:87825600-87829200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:87825600-87829200	Weak transcription	Aorta	Aorta
7	chr4:87825600-87829400	Weak transcription	Osteobl	bone
8	chr4:87825600-87830000	Weak transcription	Psoas Muscle	Psoas
9	chr4:87825600-87838800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:87825600-87846000	Weak transcription	Gastric	stomach
11	chr4:87825600-87849400	Weak transcription	Lung	lung
12	chr4:87825600-87849400	Weak transcription	Spleen	Spleen
13	chr4:87825800-87828400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr4:87825800-87828400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:87825800-87828400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:87825800-87828600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:87825800-87828600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr4:87825800-87828600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr4:87825800-87828800	Weak transcription	Brain Hippocampus Middle	brain
20	chr4:87825800-87828800	Weak transcription	Fetal Thymus	thymus
21	chr4:87825800-87828800	Weak transcription	Right Atrium	heart
22	chr4:87825800-87829000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:87825800-87829000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:87825800-87829200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:87825800-87829200	Weak transcription	Colon Smooth Muscle	Colon
26	chr4:87825800-87829200	Weak transcription	Fetal Lung	lung
27	chr4:87825800-87829200	Weak transcription	NHDF-Ad	bronchial
28	chr4:87825800-87829400	Weak transcription	Primary T cells from cord blood	blood
29	chr4:87825800-87829400	Weak transcription	Small Intestine	intestine
30	chr4:87825800-87829600	Weak transcription	Thymus	Thymus
31	chr4:87825800-87829800	Weak transcription	Fetal Intestine Large	intestine
32	chr4:87825800-87829800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr4:87825800-87830000	Weak transcription	Left Ventricle	heart
34	chr4:87825800-87830000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr4:87825800-87833000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr4:87825800-87834400	Weak transcription	Pancreas	Pancrea
37	chr4:87825800-87839400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:87825800-87843600	Weak transcription	Brain Anterior Caudate	brain
39	chr4:87825800-87854800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr4:87825800-87854800	Weak transcription	Right Ventricle	heart
41	chr4:87825800-87855200	Weak transcription	Fetal Stomach	stomach
42	chr4:87826000-87826800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr4:87826000-87827400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr4:87826000-87828600	Weak transcription	Primary B cells from cord blood	blood
45	chr4:87826000-87828600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:87826000-87828800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr4:87826000-87829200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:87826000-87829200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr4:87826000-87832600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:87826000-87834400	Weak transcription	Fetal Intestine Small	intestine

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