Variant report

Variant	rs28718806
Chromosome Location	chr5:40845127-40845128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:40835001..40837532-chr5:40844954..40847545,3	MCF-7	breast:
2	chr5:40843666..40846372-chr5:40846627..40850268,4	K562	blood:
3	chr5:40823890..40825642-chr5:40844270..40847206,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145592	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10041319	0.85[ASN][1000 genomes]
rs10046046	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10058274	0.84[ASN][1000 genomes]
rs10066341	0.80[EUR][1000 genomes]
rs10072099	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10072214	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10472340	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10941526	0.85[ASN][1000 genomes]
rs12652909	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13353861	0.85[ASN][1000 genomes]
rs13353862	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13353865	0.85[ASN][1000 genomes]
rs13354307	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13355045	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16870407	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16870425	0.85[ASN][1000 genomes]
rs16870434	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17175825	0.80[EUR][1000 genomes]
rs2081153	0.85[ASN][1000 genomes]
rs2329431	0.80[EUR][1000 genomes]
rs62357601	0.83[ASN][1000 genomes]
rs62357603	0.83[ASN][1000 genomes]
rs62357605	0.85[ASN][1000 genomes]
rs62357612	0.85[ASN][1000 genomes]
rs72748000	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72749504	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72749508	0.85[ASN][1000 genomes]
rs72749510	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72749526	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9292794	0.82[AMR][1000 genomes];0.83[EUR][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	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
2	nsv597877	chr5:40796746-40848803	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	158 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40836000-40852600	Weak transcription	Small Intestine	intestine
2	chr5:40841400-40852000	Weak transcription	Pancreas	Pancrea
3	chr5:40841800-40852400	Weak transcription	Esophagus	oesophagus
4	chr5:40842200-40852200	Weak transcription	Left Ventricle	heart
5	chr5:40842200-40852600	Weak transcription	Placenta	Placenta
6	chr5:40842200-40853800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:40842400-40852000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:40842400-40852400	Weak transcription	Liver	Liver
9	chr5:40842400-40852400	Weak transcription	Ovary	ovary
10	chr5:40842400-40852600	Weak transcription	Primary T cells from cord blood	blood
11	chr5:40842400-40853400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:40842400-40853800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:40842400-40854200	Weak transcription	Fetal Stomach	stomach
14	chr5:40842400-40854600	Weak transcription	Brain Hippocampus Middle	brain
15	chr5:40842600-40847600	Weak transcription	HMEC	breast
16	chr5:40842800-40846200	Weak transcription	A549	lung
17	chr5:40842800-40846800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:40842800-40849000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr5:40842800-40849200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:40842800-40852000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:40842800-40853200	Weak transcription	Fetal Intestine Small	intestine
22	chr5:40842800-40854000	Weak transcription	Aorta	Aorta
23	chr5:40842800-40856000	Weak transcription	Right Ventricle	heart
24	chr5:40843000-40846000	Weak transcription	NHLF	lung
25	chr5:40843000-40849000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:40843200-40852200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr5:40843400-40848800	Weak transcription	Primary B cells from cord blood	blood
28	chr5:40843400-40851800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:40843400-40852400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:40843600-40846200	Strong transcription	Primary hematopoietic stem cells	blood
31	chr5:40843600-40854000	Weak transcription	Colon Smooth Muscle	Colon
32	chr5:40843600-40857800	Weak transcription	Osteobl	bone
33	chr5:40843800-40845800	Genic enhancers	Monocytes-CD14+_RO01746	blood
34	chr5:40843800-40847000	Weak transcription	Stomach Mucosa	stomach
35	chr5:40843800-40852000	Weak transcription	Adipose Nuclei	Adipose
36	chr5:40843800-40852000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr5:40844000-40845200	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr5:40844000-40846400	Weak transcription	K562	blood
39	chr5:40844000-40852200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:40844000-40852400	Weak transcription	Hela-S3	cervix
41	chr5:40844200-40845400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:40844200-40846000	Weak transcription	HUVEC	blood vessel
43	chr5:40844400-40845600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:40844800-40845600	Genic enhancers	Primary monocytes fromperipheralblood	blood
45	chr5:40845000-40845400	Enhancers	Gastric	stomach
46	chr5:40845000-40845400	Genic enhancers	Spleen	Spleen
47	chr5:40845000-40846800	Genic enhancers	Lung	lung

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