Variant report

Variant	rs72719731
Chromosome Location	chr14:70985048-70985049
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70983745..70986575-chr14:70987708..70990108,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10134765	0.95[ASN][1000 genomes]
rs10135054	0.80[ASN][1000 genomes]
rs10144849	0.90[ASN][1000 genomes]
rs10145606	0.95[ASN][1000 genomes]
rs2233136	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55638679	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs55788982	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55830682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55831916	0.90[ASN][1000 genomes]
rs55844620	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs55861611	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs55881091	0.95[ASN][1000 genomes]
rs55988558	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56118324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56284928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56322329	0.90[ASN][1000 genomes]
rs56389452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56405439	0.90[ASN][1000 genomes]
rs59480415	0.90[ASN][1000 genomes]
rs66883325	0.90[ASN][1000 genomes]
rs66915556	0.90[ASN][1000 genomes]
rs67358716	0.90[ASN][1000 genomes]
rs67988556	0.80[ASN][1000 genomes]
rs7154970	0.90[ASN][1000 genomes]
rs7160103	0.90[ASN][1000 genomes]
rs72719730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719739	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719745	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72719746	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719747	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719748	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719750	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719751	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719754	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72719757	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72719758	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72719764	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72719773	0.90[ASN][1000 genomes]
rs72719777	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72719785	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs72719791	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8004872	0.95[ASN][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	nsv565042	chr14:70951234-71011734	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1050615	chr14:70954149-71013235	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv2763072	chr14:70954149-71013247	Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70958600-70989000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr14:70958800-70993800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr14:70968600-70989400	Weak transcription	Pancreas	Pancrea
4	chr14:70973400-70985200	Weak transcription	Left Ventricle	heart
5	chr14:70975800-70990000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr14:70978200-70986600	Weak transcription	Liver	Liver
7	chr14:70978800-70988600	Weak transcription	Ovary	ovary
8	chr14:70979200-70986800	Weak transcription	Primary T cells from cord blood	blood
9	chr14:70980000-70989400	Weak transcription	Brain Angular Gyrus	brain
10	chr14:70981000-70989400	Weak transcription	Brain Substantia Nigra	brain
11	chr14:70981000-70989600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr14:70981200-70994400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:70982000-71003600	Weak transcription	HSMM	muscle
14	chr14:70982400-71003200	Weak transcription	Psoas Muscle	Psoas
15	chr14:70982800-70989400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr14:70983000-70986000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:70983800-70989400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:70984600-70986600	Weak transcription	Fetal Brain Male	brain
19	chr14:70984800-70985800	Strong transcription	HSMMtube	muscle
20	chr14:70985000-70985200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr14:70985000-70985800	Strong transcription	Adipose Nuclei	Adipose
22	chr14:70985000-70986000	ZNF genes & repeats	Aorta	Aorta

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