Variant report

Variant	rs1247593
Chromosome Location	chr4:74485868-74485869
allele	A/G
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:16)

rs_ID	r²[population]
rs10004505	0.82[EUR][1000 genomes]
rs1074085	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1247651	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1247670	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13115877	0.84[EUR][1000 genomes]
rs13133747	0.82[ASN][1000 genomes]
rs13144390	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16849727	0.84[EUR][1000 genomes]
rs17192413	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28658027	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34123018	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34832471	0.88[ASN][1000 genomes]
rs4694626	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68145475	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6837506	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9997572	0.82[EUR][1000 genomes];0.90[ASN][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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74481600-74486000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:74482000-74487000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr4:74484400-74486400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr4:74484400-74486400	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr4:74484400-74486400	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr4:74484400-74486800	Active TSS	Fetal Stomach	stomach
7	chr4:74484600-74486600	Active TSS	Fetal Intestine Large	intestine
8	chr4:74484800-74486200	Active TSS	Stomach Mucosa	stomach
9	chr4:74484800-74486600	Active TSS	Duodenum Mucosa	Duodenum
10	chr4:74484800-74486600	Active TSS	Fetal Intestine Small	intestine
11	chr4:74485000-74486000	Active TSS	Rectal Smooth Muscle	rectum
12	chr4:74485000-74486200	Active TSS	Gastric	stomach
13	chr4:74485000-74486600	Active TSS	Colonic Mucosa	Colon
14	chr4:74485000-74486800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:74485000-74486800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:74485200-74486200	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr4:74485200-74486800	Active TSS	Fetal Kidney	kidney
18	chr4:74485400-74486200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr4:74485400-74486200	Active TSS	Pancreas	Pancrea
20	chr4:74485400-74486600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:74485400-74486600	Flanking Active TSS	Fetal Thymus	thymus
22	chr4:74485400-74486800	Active TSS	Thymus	Thymus
23	chr4:74485600-74486000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:74485600-74486000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
25	chr4:74485600-74486000	Flanking Active TSS	A549	lung
26	chr4:74485600-74486200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:74485600-74486400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr4:74485600-74486400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr4:74485600-74486400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr4:74485600-74486600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:74485600-74486600	Active TSS	Esophagus	oesophagus
32	chr4:74485600-74486800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr4:74485800-74486000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
34	chr4:74485800-74486000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:74485800-74486000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
36	chr4:74485800-74486000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:74485800-74486000	Bivalent/Poised TSS	Primary B cells from peripheral blood	blood
38	chr4:74485800-74486000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
39	chr4:74485800-74486000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
40	chr4:74485800-74486000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr4:74485800-74486000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:74485800-74486000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:74485800-74486000	Flanking Active TSS	Liver	Liver
44	chr4:74485800-74486000	Flanking Bivalent TSS/Enh	Sigmoid Colon	Sigmoid Colon
45	chr4:74485800-74486000	Flanking Active TSS	HepG2	liver
46	chr4:74485800-74486200	Active TSS	Primary hematopoietic stem cells	blood
47	chr4:74485800-74486200	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr4:74485800-74486200	Active TSS	GM12878-XiMat	blood
49	chr4:74485800-74486200	Active TSS	NHEK	skin
50	chr4:74485800-74486400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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