Variant report

Variant	rs73242642
Chromosome Location	chr4:57956419-57956420
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57947814..57949862-chr4:57955509..57958047,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11573048	0.97[EUR][1000 genomes]
rs28656154	0.85[ASN][1000 genomes]
rs35281174	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73242643	0.91[ASN][1000 genomes]
rs73242644	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs73242645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73242646	0.91[ASN][1000 genomes]
rs73242647	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs73242650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73242651	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73242656	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73242657	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73242658	0.81[AMR][1000 genomes]
rs73242659	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73242660	0.81[AMR][1000 genomes]
rs73242661	0.81[AMR][1000 genomes]
rs73242663	0.91[AMR][1000 genomes];0.85[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	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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57942800-57960400	Weak transcription	Psoas Muscle	Psoas
2	chr4:57944400-57964000	Weak transcription	Fetal Thymus	thymus
3	chr4:57945200-57958000	Weak transcription	Gastric	stomach
4	chr4:57945200-57960400	Weak transcription	Pancreas	Pancrea
5	chr4:57947200-57958000	Weak transcription	Aorta	Aorta
6	chr4:57948400-57965200	Weak transcription	Brain Anterior Caudate	brain
7	chr4:57948600-57960400	Weak transcription	HSMM	muscle
8	chr4:57949800-57957200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:57950000-57957400	Weak transcription	Ovary	ovary
10	chr4:57950000-57958200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr4:57950000-57960000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:57950000-57960400	Weak transcription	Right Atrium	heart
13	chr4:57950000-57963800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr4:57950800-57957600	Weak transcription	A549	lung
15	chr4:57950800-57960400	Weak transcription	NHLF	lung
16	chr4:57951200-57956800	Weak transcription	HMEC	breast
17	chr4:57952000-57958600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:57952200-57957800	Weak transcription	GM12878-XiMat	blood
19	chr4:57953000-57957600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr4:57953400-57956800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:57953600-57957600	Weak transcription	Colon Smooth Muscle	Colon
22	chr4:57954000-57958200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:57954800-57957200	Weak transcription	Fetal Kidney	kidney
24	chr4:57955400-57958800	Enhancers	HUVEC	blood vessel
25	chr4:57955600-57956600	Genic enhancers	NH-A	brain
26	chr4:57955600-57957000	Enhancers	Primary hematopoietic stem cells	blood
27	chr4:57955600-57957200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:57955600-57957400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:57955800-57956600	Strong transcription	NHEK	skin
30	chr4:57955800-57956800	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr4:57955800-57957000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:57955800-57957000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr4:57955800-57957000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:57955800-57957600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:57955800-57957800	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr4:57955800-57958200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr4:57955800-57958200	Enhancers	Right Ventricle	heart
38	chr4:57955800-57960400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:57956000-57956800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:57956000-57956800	Enhancers	Brain Substantia Nigra	brain
41	chr4:57956000-57957200	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr4:57956000-57957600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:57956200-57957400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:57956200-57958000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:57956200-57958400	Enhancers	Fetal Heart	heart
46	chr4:57956200-57960800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:57956200-57964000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:57956400-57956600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr4:57956400-57957000	Enhancers	Left Ventricle	heart
50	chr4:57956400-57957400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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