Variant report

Variant	rs2452596
Chromosome Location	chr4:95489295-95489296
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95479530..95482092-chr4:95487778..95489313,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10001372	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10033359	1.00[EUR][1000 genomes]
rs10856910	1.00[EUR][1000 genomes]
rs1389161	1.00[EUR][1000 genomes]
rs2131455	1.00[EUR][1000 genomes]
rs2452595	1.00[EUR][1000 genomes]
rs3857212	1.00[EUR][1000 genomes]
rs4699303	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6532493	1.00[AFR][1000 genomes]
rs6822264	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7662914	1.00[AFR][1000 genomes]
rs966845	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95479800-95491400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:95479800-95496800	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:95481200-95494600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:95481400-95496800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:95481400-95496800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:95483400-95491600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:95483400-95491800	Weak transcription	Brain Anterior Caudate	brain
8	chr4:95483400-95496600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:95483400-95496800	Weak transcription	NHEK	skin
10	chr4:95483400-95524400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:95483600-95496200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:95483800-95491800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr4:95483800-95496600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:95483800-95496800	Weak transcription	Gastric	stomach
15	chr4:95483800-95497000	Weak transcription	HMEC	breast
16	chr4:95484000-95491400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:95484000-95495600	Weak transcription	NH-A	brain
18	chr4:95484000-95496600	Weak transcription	HSMMtube	muscle
19	chr4:95484000-95507400	Weak transcription	Hela-S3	cervix
20	chr4:95484600-95496800	Weak transcription	HSMM	muscle
21	chr4:95485600-95496600	Weak transcription	Ovary	ovary
22	chr4:95485800-95495200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr4:95485800-95496800	Weak transcription	Psoas Muscle	Psoas
24	chr4:95485800-95496800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:95486000-95496800	Weak transcription	Aorta	Aorta
26	chr4:95486200-95495000	Weak transcription	Placenta	Placenta
27	chr4:95486200-95495200	Weak transcription	Left Ventricle	heart
28	chr4:95486400-95493200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr4:95486800-95490400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:95486800-95496600	Weak transcription	Right Ventricle	heart
31	chr4:95487000-95495200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:95487000-95496600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr4:95487200-95489400	Enhancers	A549	lung
34	chr4:95488000-95491800	Weak transcription	HepG2	liver
35	chr4:95488600-95489400	Enhancers	Fetal Heart	heart
36	chr4:95488600-95489600	Enhancers	Osteobl	bone
37	chr4:95488800-95489400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:95488800-95489400	Active TSS	Primary hematopoietic stem cells	blood
39	chr4:95488800-95489400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:95488800-95489400	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr4:95488800-95489400	Enhancers	Fetal Intestine Large	intestine
42	chr4:95488800-95489400	Active TSS	Right Atrium	heart
43	chr4:95488800-95489400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr4:95488800-95489600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:95489000-95489400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:95489000-95489400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:95489000-95489400	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr4:95489000-95489400	Flanking Active TSS	Liver	Liver
49	chr4:95489000-95489400	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr4:95489000-95489400	Flanking Active TSS	Duodenum Mucosa	Duodenum

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