Variant report

Variant	rs73242633
Chromosome Location	chr4:57920066-57920067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57843657..57845582-chr4:57917251..57920235,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000084092	Chromatin interaction
ENSG00000047315	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11941013	0.98[EUR][1000 genomes]
rs1277296	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713964	0.94[EUR][1000 genomes]
rs1713965	0.95[EUR][1000 genomes]
rs17182939	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35680048	1.00[ASN][1000 genomes]
rs4596307	1.00[ASN][1000 genomes]
rs59666483	0.98[EUR][1000 genomes]
rs6554404	0.98[EUR][1000 genomes]
rs67000357	0.98[EUR][1000 genomes]
rs6837593	0.98[EUR][1000 genomes]
rs73242634	1.00[ASN][1000 genomes]
rs7654665	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7669759	0.98[EUR][1000 genomes]
rs7672518	0.98[EUR][1000 genomes]
rs7688422	0.98[EUR][1000 genomes]
rs7688831	0.96[EUR][1000 genomes]
rs7699276	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57899400-57925000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:57899600-57942200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:57904800-57922200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:57910400-57921200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:57912000-57920200	Weak transcription	Aorta	Aorta
6	chr4:57913000-57921200	Weak transcription	Fetal Stomach	stomach
7	chr4:57913000-57922000	Weak transcription	NHLF	lung
8	chr4:57913000-57922600	Weak transcription	Ovary	ovary
9	chr4:57915000-57921200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:57915200-57922400	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:57915400-57923600	Weak transcription	HSMM	muscle
12	chr4:57915600-57922600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:57915600-57923000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr4:57915600-57924200	Enhancers	Left Ventricle	heart
15	chr4:57915800-57930200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:57916000-57922000	Weak transcription	Brain Anterior Caudate	brain
17	chr4:57917400-57920400	Enhancers	Right Ventricle	heart
18	chr4:57917600-57922200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:57917600-57931000	Weak transcription	Pancreas	Pancrea
20	chr4:57917800-57921600	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:57917800-57922600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:57917800-57926000	Weak transcription	Fetal Kidney	kidney
23	chr4:57918000-57921400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:57918000-57922000	Weak transcription	Fetal Heart	heart
25	chr4:57918000-57923400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:57918000-57929000	Weak transcription	HUVEC	blood vessel
27	chr4:57918600-57921200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr4:57918600-57922400	Weak transcription	Fetal Intestine Small	intestine
29	chr4:57918600-57923600	Strong transcription	HSMMtube	muscle
30	chr4:57918600-57929200	Weak transcription	Fetal Muscle Leg	muscle
31	chr4:57918600-57936800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr4:57918800-57920200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr4:57918800-57920600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr4:57919000-57921000	Weak transcription	Spleen	Spleen
35	chr4:57919000-57921200	Weak transcription	Right Atrium	heart
36	chr4:57919400-57920400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:57919400-57920400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:57919400-57920400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:57919400-57920400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr4:57919400-57920600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:57919400-57920600	Enhancers	HMEC	breast
42	chr4:57919400-57920800	Enhancers	NH-A	brain
43	chr4:57919400-57921000	Genic enhancers	Osteobl	bone
44	chr4:57919400-57921600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:57919600-57920200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:57919600-57920200	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr4:57919600-57920400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:57919600-57920400	Enhancers	A549	lung
49	chr4:57919800-57920200	Weak transcription	Lung	lung
50	chr4:57919800-57920200	Weak transcription	Psoas Muscle	Psoas

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