Variant report

Variant	rs573116
Chromosome Location	chr5:14775297-14775298
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	chr5:14766810..14770157-chr5:14772222..14775732,5	K562	blood:
2	chr5:14774249..14779166-chr5:14785300..14788951,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154122	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs258218	0.81[ASN][1000 genomes]
rs258219	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs258222	0.87[ASN][1000 genomes]
rs258224	0.87[ASN][1000 genomes]
rs258225	0.87[ASN][1000 genomes]
rs258226	0.87[ASN][1000 genomes]
rs258227	0.87[ASN][1000 genomes]
rs258228	0.87[ASN][1000 genomes]
rs258231	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs25957	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28005	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28006	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28108	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs30615	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs31909	0.86[ASN][1000 genomes]
rs31912	0.81[ASN][1000 genomes]
rs31933	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs39916	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs42679	0.87[ASN][1000 genomes]
rs879253	0.87[ASN][1000 genomes]
rs9790982	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14729200-14791000	Weak transcription	Small Intestine	intestine
2	chr5:14744600-14775800	Weak transcription	NH-A	brain
3	chr5:14744800-14776000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:14746000-14790200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr5:14746200-14775800	Weak transcription	Spleen	Spleen
6	chr5:14746600-14776000	Weak transcription	Placenta	Placenta
7	chr5:14749000-14776000	Weak transcription	Esophagus	oesophagus
8	chr5:14751400-14775800	Weak transcription	Pancreas	Pancrea
9	chr5:14752200-14776600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr5:14753400-14775600	Weak transcription	Lung	lung
11	chr5:14753400-14777000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:14753600-14790000	Weak transcription	Ovary	ovary
13	chr5:14753600-14801600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:14753800-14775800	Weak transcription	Gastric	stomach
15	chr5:14756800-14779000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr5:14756800-14780200	Weak transcription	Fetal Stomach	stomach
17	chr5:14756800-14781200	Weak transcription	Thymus	Thymus
18	chr5:14757400-14775800	Weak transcription	HMEC	breast
19	chr5:14758800-14783800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:14759200-14790200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:14761000-14776000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:14761000-14777800	Weak transcription	HSMMtube	muscle
23	chr5:14761400-14775800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:14761600-14776000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:14765200-14775800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:14766600-14780000	Weak transcription	Fetal Intestine Large	intestine
27	chr5:14767400-14809800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr5:14768400-14776000	Weak transcription	Hela-S3	cervix
29	chr5:14768400-14789800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr5:14768600-14775600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr5:14768600-14779400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr5:14768600-14790000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr5:14768600-14790200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr5:14768600-14790200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr5:14768600-14790200	Weak transcription	Dnd41	blood
36	chr5:14768800-14775800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:14768800-14776000	Weak transcription	Adipose Nuclei	Adipose
38	chr5:14768800-14779000	Weak transcription	Primary T cells from cord blood	blood
39	chr5:14769000-14780800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:14769200-14789400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr5:14769400-14775600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:14769400-14775600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr5:14769400-14778800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:14769400-14790600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr5:14769400-14790600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr5:14769600-14775800	Weak transcription	Osteobl	bone
47	chr5:14770200-14777600	Weak transcription	Fetal Brain Male	brain
48	chr5:14771600-14777400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr5:14771800-14775800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr5:14772600-14778000	Enhancers	HepG2	liver

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