Variant report

Variant	rs72734712
Chromosome Location	chr5:14783575-14783576
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	chr5:14783436..14785006-chr5:14787434..14790380,2	K562	blood:

Variant related genes	Relation type
ENSG00000154122	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12153088	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17317417	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17317655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59110348	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59320494	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72734711	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72734714	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72734782	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703719	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv948447	chr5:14771247-14852610	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14729200-14791000	Weak transcription	Small Intestine	intestine
2	chr5:14746000-14790200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:14753600-14790000	Weak transcription	Ovary	ovary
4	chr5:14753600-14801600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:14758800-14783800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:14759200-14790200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:14767400-14809800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:14768400-14789800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr5:14768600-14790000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr5:14768600-14790200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:14768600-14790200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr5:14768600-14790200	Weak transcription	Dnd41	blood
13	chr5:14769200-14789400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr5:14769400-14790600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:14769400-14790600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr5:14775600-14783800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr5:14776400-14785400	Weak transcription	Spleen	Spleen
18	chr5:14776800-14784400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:14776800-14790200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:14776800-14809400	Weak transcription	HMEC	breast
21	chr5:14777000-14788200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr5:14777000-14790000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:14777000-14794200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr5:14777200-14806200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:14777200-14810400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr5:14777200-14811400	Weak transcription	Colonic Mucosa	Colon
27	chr5:14778200-14805800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:14778200-14809400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:14778200-14817200	Weak transcription	Fetal Brain Female	brain
30	chr5:14778400-14784400	Weak transcription	Lung	lung
31	chr5:14779000-14784000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:14779600-14784000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:14779600-14788000	Weak transcription	Liver	Liver
34	chr5:14779800-14784000	Weak transcription	Fetal Intestine Small	intestine
35	chr5:14780000-14786400	Weak transcription	Brain Hippocampus Middle	brain
36	chr5:14780000-14794600	Weak transcription	Fetal Heart	heart
37	chr5:14780600-14789800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr5:14781000-14784000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr5:14781200-14783800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:14781400-14784800	Weak transcription	Left Ventricle	heart
41	chr5:14781400-14796000	Weak transcription	Hela-S3	cervix
42	chr5:14781600-14783600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:14781600-14784000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:14781600-14784400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr5:14781600-14786600	Weak transcription	Brain Anterior Caudate	brain
46	chr5:14781600-14787800	Weak transcription	Brain Angular Gyrus	brain
47	chr5:14781600-14788200	Weak transcription	Brain Substantia Nigra	brain
48	chr5:14781600-14788200	Weak transcription	Right Ventricle	heart
49	chr5:14781600-14789800	Weak transcription	Fetal Intestine Large	intestine
50	chr5:14781600-14794200	Weak transcription	Thymus	Thymus

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