Variant report

Variant	rs1323066
Chromosome Location	chr4:20256722-20256723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:20252097..20254985-chr4:20256141..20260392,5	MCF-7	breast:
2	chr4:20252458..20255013-chr4:20255238..20258452,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145147	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17535770	0.86[ASN][1000 genomes]
rs2025287	0.90[ASN][1000 genomes]
rs28735796	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4552453	0.80[EUR][1000 genomes]
rs500869	0.96[ASN][1000 genomes]
rs505954	0.86[ASN][1000 genomes]
rs587032	0.96[ASN][1000 genomes]
rs668592	0.86[ASN][1000 genomes]
rs7655084	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7682397	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7685284	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][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	nsv878736	chr4:20233035-20279858	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv878737	chr4:20233035-20282334	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv878738	chr4:20255306-20300192	Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv878739	chr4:20255306-20307922	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20252200-20258200	Active TSS	NHDF-Ad	bronchial
2	chr4:20252400-20257000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr4:20252400-20257400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr4:20252600-20257000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr4:20252600-20257200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr4:20252600-20257400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:20252600-20257800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:20252800-20257000	Active TSS	Osteobl	bone
9	chr4:20252800-20258600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:20253000-20256800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
11	chr4:20253000-20257000	Active TSS	Hela-S3	cervix
12	chr4:20253000-20257400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:20253000-20257600	Active TSS	Colon Smooth Muscle	Colon
14	chr4:20253000-20258000	Active TSS	Placenta Amnion	Placenta Amnion
15	chr4:20253000-20259000	Active TSS	Aorta	Aorta
16	chr4:20253200-20256800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:20253200-20256800	Active TSS	NHLF	lung
18	chr4:20253200-20257000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:20253200-20257000	Active TSS	NHEK	skin
20	chr4:20253200-20257600	Active TSS	Brain Angular Gyrus	brain
21	chr4:20253600-20256800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:20253600-20257000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:20253800-20256800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:20253800-20257000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
25	chr4:20253800-20257200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
26	chr4:20253800-20257200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
27	chr4:20253800-20257200	Flanking Active TSS	HMEC	breast
28	chr4:20253800-20258400	Flanking Active TSS	HUVEC	blood vessel
29	chr4:20254000-20256800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
30	chr4:20254000-20257000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:20254000-20257000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:20254000-20257000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
33	chr4:20254000-20257000	Flanking Active TSS	Pancreas	Pancrea
34	chr4:20254000-20257200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:20254200-20256800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
36	chr4:20254200-20256800	Flanking Active TSS	Gastric	stomach
37	chr4:20254200-20257000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:20254200-20257000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
39	chr4:20254200-20257000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
40	chr4:20254200-20257000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
41	chr4:20254200-20257200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
42	chr4:20254200-20257200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
43	chr4:20254200-20257200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
44	chr4:20254200-20259400	Transcr. at gene 5' and 3'	Fetal Lung	lung
45	chr4:20254400-20256800	Bivalent/Poised TSS	Fetal Kidney	kidney
46	chr4:20254400-20257000	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
47	chr4:20254400-20257000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
48	chr4:20254600-20256800	Bivalent/Poised TSS	Fetal Thymus	thymus
49	chr4:20254600-20257000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
50	chr4:20254800-20257000	Bivalent Enhancer	Primary hematopoietic stem cells	blood

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