Variant report

Variant	rs2452553
Chromosome Location	chr4:95402823-95402824
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95398573..95401933-chr4:95402630..95406147,4	K562	blood:
2	chr4:95375462..95377794-chr4:95402520..95405360,2	MCF-7	breast:
3	chr4:95391486..95396177-chr4:95398178..95402962,4	K562	blood:

Variant related genes	Relation type
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17378777	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1820475	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2011525	0.83[AMR][1000 genomes]
rs2433320	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2433322	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2433323	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2433326	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2433327	0.83[EUR][1000 genomes]
rs2438146	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2438147	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2438148	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2510762	0.83[EUR][1000 genomes]
rs2510763	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2510764	0.84[EUR][1000 genomes]
rs2510765	0.85[EUR][1000 genomes]
rs28697067	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34570027	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6812165	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7697295	0.84[EUR][1000 genomes]
rs774982	0.81[AMR][1000 genomes]
rs9990678	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9990976	0.84[EUR][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	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95375000-95440200	Weak transcription	Primary T cells from cord blood	blood
2	chr4:95387400-95410000	Weak transcription	NHLF	lung
3	chr4:95387400-95420800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:95389600-95406000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:95393800-95405600	Weak transcription	HSMMtube	muscle
6	chr4:95394000-95405000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:95394200-95404800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:95394400-95405800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:95394400-95407000	Weak transcription	NH-A	brain
10	chr4:95394400-95407800	Weak transcription	Aorta	Aorta
11	chr4:95394400-95419200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:95394400-95428000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr4:95394600-95406000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:95395400-95405000	Weak transcription	HSMM	muscle
15	chr4:95396600-95419000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:95396800-95410000	Weak transcription	Fetal Intestine Large	intestine
17	chr4:95398400-95407600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:95398400-95408800	Weak transcription	Brain Substantia Nigra	brain
19	chr4:95398400-95428400	Weak transcription	Small Intestine	intestine
20	chr4:95398600-95403400	Weak transcription	Fetal Muscle Leg	muscle
21	chr4:95398600-95405800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr4:95399000-95404600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr4:95399000-95409800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:95399600-95404200	Enhancers	Fetal Heart	heart
25	chr4:95400200-95404000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr4:95400400-95403400	Weak transcription	Fetal Intestine Small	intestine
27	chr4:95400400-95415200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:95400800-95405800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:95400800-95440000	Weak transcription	Lung	lung
30	chr4:95401400-95403000	Enhancers	Left Ventricle	heart
31	chr4:95401400-95406000	Weak transcription	Colon Smooth Muscle	Colon
32	chr4:95401600-95403400	Weak transcription	Stomach Mucosa	stomach
33	chr4:95401800-95403000	Weak transcription	HepG2	liver
34	chr4:95401800-95403400	Weak transcription	HUVEC	blood vessel
35	chr4:95401800-95406400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr4:95401800-95408800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr4:95401800-95420800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:95402000-95403400	Weak transcription	Liver	Liver
39	chr4:95402000-95403400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr4:95402000-95403800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr4:95402000-95404000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr4:95402000-95405000	Weak transcription	K562	blood
43	chr4:95402000-95406000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr4:95402000-95406800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:95402000-95407000	Weak transcription	Psoas Muscle	Psoas
46	chr4:95402000-95407400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:95402000-95407600	Weak transcription	Right Ventricle	heart
48	chr4:95402000-95408600	Weak transcription	Right Atrium	heart
49	chr4:95402000-95409000	Weak transcription	NHDF-Ad	bronchial
50	chr4:95402000-95409200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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