Variant report

Variant	rs6842097
Chromosome Location	chr4:54772330-54772331
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1402575	1.00[AMR][1000 genomes]
rs1402576	1.00[AMR][1000 genomes]
rs6815566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6833117	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879017	chr4:54656948-54784205	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv879018	chr4:54714753-55030375	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1003167	chr4:54732051-55081905	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv537096	chr4:54732051-55081905	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1014456	chr4:54759975-54807987	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54768800-54772400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:54771000-54775800	Enhancers	Fetal Heart	heart
3	chr4:54771000-54776000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:54771400-54772400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:54771600-54773000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:54771600-54773200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:54771800-54772400	Enhancers	Placenta Amnion	Placenta Amnion
8	chr4:54771800-54772600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:54771800-54772800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:54771800-54772800	Flanking Active TSS	HepG2	liver
11	chr4:54771800-54773200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:54771800-54773600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:54772000-54772400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:54772000-54772400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:54772000-54772400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
16	chr4:54772000-54772400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
17	chr4:54772000-54772400	Enhancers	Pancreas	Pancrea
18	chr4:54772000-54772400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
19	chr4:54772000-54772400	Enhancers	Spleen	Spleen
20	chr4:54772000-54772600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr4:54772000-54772600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:54772000-54772600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:54772000-54772600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr4:54772000-54772600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
25	chr4:54772000-54772600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:54772000-54772600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:54772000-54772600	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
28	chr4:54772000-54772600	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr4:54772000-54772600	Flanking Active TSS	Fetal Intestine Small	intestine
30	chr4:54772000-54772600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
31	chr4:54772000-54772600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
32	chr4:54772000-54772600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
33	chr4:54772000-54772600	Flanking Active TSS	Dnd41	blood
34	chr4:54772000-54772600	Flanking Active TSS	HSMMtube	muscle
35	chr4:54772000-54772800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
36	chr4:54772000-54773000	Flanking Active TSS	Osteobl	bone
37	chr4:54772200-54772400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr4:54772200-54772400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
39	chr4:54772200-54772400	Enhancers	Primary B cells from peripheral blood	blood
40	chr4:54772200-54772400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
41	chr4:54772200-54772400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
42	chr4:54772200-54772400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
43	chr4:54772200-54772400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:54772200-54772400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
45	chr4:54772200-54772400	Active TSS	Brain Angular Gyrus	brain
46	chr4:54772200-54772400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
47	chr4:54772200-54772400	Active TSS	Colonic Mucosa	Colon
48	chr4:54772200-54772400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
49	chr4:54772200-54772400	Flanking Active TSS	Fetal Muscle Trunk	muscle
50	chr4:54772200-54772400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus

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