Variant report

Variant	rs258230
Chromosome Location	chr5:14789906-14789907
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	chr5:14789541..14791953-chr5:14870274..14872270,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154122	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs174018	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs25946	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs30614	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs31931	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[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	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
3	nsv830212	chr5:14784197-14966683	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 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	chr5:14759200-14790200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:14767400-14809800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:14768600-14790000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr5:14768600-14790200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr5:14768600-14790200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr5:14768600-14790200	Weak transcription	Dnd41	blood
11	chr5:14769400-14790600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:14769400-14790600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr5:14776800-14790200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:14776800-14809400	Weak transcription	HMEC	breast
15	chr5:14777000-14790000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:14777000-14794200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:14777200-14806200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:14777200-14810400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr5:14777200-14811400	Weak transcription	Colonic Mucosa	Colon
20	chr5:14778200-14805800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:14778200-14809400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:14778200-14817200	Weak transcription	Fetal Brain Female	brain
23	chr5:14780000-14794600	Weak transcription	Fetal Heart	heart
24	chr5:14781400-14796000	Weak transcription	Hela-S3	cervix
25	chr5:14781600-14794200	Weak transcription	Thymus	Thymus
26	chr5:14782200-14805800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr5:14782600-14790200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr5:14782600-14791000	Weak transcription	Aorta	Aorta
29	chr5:14784400-14790200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:14784600-14790200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:14784600-14793400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr5:14784600-14793400	Weak transcription	Lung	lung
33	chr5:14784600-14793600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr5:14784800-14797400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:14784800-14806600	Weak transcription	Adipose Nuclei	Adipose
36	chr5:14785000-14793400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:14785200-14793400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:14785200-14794000	Weak transcription	Gastric	stomach
39	chr5:14785400-14790600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:14785600-14793400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr5:14785800-14809600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:14787000-14794200	Weak transcription	Brain Anterior Caudate	brain
43	chr5:14788200-14790200	Weak transcription	Fetal Brain Male	brain
44	chr5:14788200-14790600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr5:14788200-14793400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr5:14788200-14793600	Weak transcription	Brain Hippocampus Middle	brain
47	chr5:14788400-14790800	Weak transcription	Left Ventricle	heart
48	chr5:14788400-14792200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:14788400-14809600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr5:14788600-14790200	Weak transcription	Osteobl	bone

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