Variant report

Variant	rs72967593
Chromosome Location	chr4:152225482-152225483
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	chr4:152222898..152227266-chr4:152244180..152247379,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109686	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10005764	1.00[EUR][1000 genomes]
rs10016856	1.00[EUR][1000 genomes]
rs10028324	1.00[EUR][1000 genomes]
rs11099784	1.00[EUR][1000 genomes]
rs17027541	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027575	1.00[EUR][1000 genomes]
rs2034062	1.00[EUR][1000 genomes]
rs2034063	1.00[EUR][1000 genomes]
rs28399915	1.00[EUR][1000 genomes]
rs28401367	1.00[EUR][1000 genomes]
rs28432996	1.00[EUR][1000 genomes]
rs28493533	1.00[EUR][1000 genomes]
rs28566074	1.00[EUR][1000 genomes]
rs28594255	1.00[EUR][1000 genomes]
rs28644282	1.00[EUR][1000 genomes]
rs28658039	1.00[EUR][1000 genomes]
rs28791569	1.00[EUR][1000 genomes]
rs28836884	1.00[EUR][1000 genomes]
rs56681758	1.00[EUR][1000 genomes]
rs58001315	1.00[EUR][1000 genomes]
rs58602547	1.00[EUR][1000 genomes]
rs59043107	1.00[EUR][1000 genomes]
rs60001201	1.00[EUR][1000 genomes]
rs60162090	1.00[EUR][1000 genomes]
rs60661732	1.00[EUR][1000 genomes]
rs6855493	1.00[EUR][1000 genomes]
rs6856037	1.00[EUR][1000 genomes]
rs73859998	1.00[EUR][1000 genomes]
rs73860000	1.00[EUR][1000 genomes]
rs73861187	1.00[EUR][1000 genomes]
rs73861286	1.00[EUR][1000 genomes]
rs73861817	1.00[EUR][1000 genomes]
rs73861820	1.00[EUR][1000 genomes]
rs73861828	1.00[EUR][1000 genomes]
rs73861829	1.00[EUR][1000 genomes]
rs73861840	1.00[EUR][1000 genomes]
rs73861849	1.00[EUR][1000 genomes]
rs73861862	1.00[EUR][1000 genomes]
rs7659047	1.00[EUR][1000 genomes]
rs9917939	1.00[EUR][1000 genomes]
rs9918061	1.00[EUR][1000 genomes]
rs9968310	1.00[EUR][1000 genomes]
rs9991362	1.00[EUR][1000 genomes]
rs9997354	1.00[EUR][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	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1025192	chr4:152202627-152498890	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv537307	chr4:152202627-152498890	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152197800-152242400	Weak transcription	Aorta	Aorta
2	chr4:152198800-152242800	Weak transcription	Fetal Lung	lung
3	chr4:152201600-152228600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:152203600-152243000	Weak transcription	Esophagus	oesophagus
5	chr4:152206400-152225600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:152208400-152228400	Weak transcription	Fetal Stomach	stomach
7	chr4:152213000-152234800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:152213400-152225600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:152213400-152228400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:152213400-152235800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:152216600-152225800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr4:152216600-152228600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:152217000-152228800	Weak transcription	Fetal Intestine Large	intestine
14	chr4:152217000-152233600	Weak transcription	Right Atrium	heart
15	chr4:152217000-152235800	Weak transcription	Lung	lung
16	chr4:152217600-152228600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr4:152217800-152225600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:152218600-152225600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr4:152218600-152232600	Weak transcription	HUVEC	blood vessel
20	chr4:152218600-152236000	Weak transcription	A549	lung
21	chr4:152218800-152242200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:152219200-152234800	Weak transcription	Right Ventricle	heart
23	chr4:152219200-152235800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr4:152219800-152228600	Weak transcription	Left Ventricle	heart
25	chr4:152220000-152234800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:152223000-152226200	Enhancers	Colon Smooth Muscle	Colon
27	chr4:152223000-152226600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:152223200-152226200	Enhancers	Brain Substantia Nigra	brain
29	chr4:152223200-152226400	Enhancers	Brain Cingulate Gyrus	brain
30	chr4:152223200-152227000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr4:152223400-152230000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:152223600-152226800	Enhancers	HepG2	liver
33	chr4:152223600-152228600	Weak transcription	Fetal Intestine Small	intestine
34	chr4:152223600-152233600	Weak transcription	Small Intestine	intestine
35	chr4:152223600-152236000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:152223800-152228600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:152223800-152234800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr4:152224600-152226000	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr4:152224800-152225600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr4:152224800-152225600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr4:152224800-152226000	Enhancers	Ovary	ovary
42	chr4:152224800-152226000	Enhancers	Psoas Muscle	Psoas
43	chr4:152224800-152226200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr4:152224800-152226200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr4:152224800-152226200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr4:152224800-152226200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:152224800-152226200	Enhancers	HMEC	breast
48	chr4:152224800-152226200	Enhancers	NHEK	skin
49	chr4:152224800-152226400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr4:152224800-152226400	Enhancers	Brain Angular Gyrus	brain

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