Variant report

Variant	rs57480840
Chromosome Location	chr7:28080247-28080248
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	chr7:28077761..28080354-chr7:28081321..28085953,4	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10486575	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1123858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17156137	0.93[ASN][1000 genomes]
rs17156218	0.98[ASN][1000 genomes]
rs17156240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17156282	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57661426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59980843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:28073200-28082600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr7:28074400-28085800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:28074600-28084200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:28075600-28082400	Enhancers	HSMMtube	muscle
5	chr7:28076000-28081000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:28076200-28082200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:28076600-28080800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:28076600-28080800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:28076600-28082200	Weak transcription	Lung	lung
10	chr7:28076800-28080800	Weak transcription	Placenta	Placenta
11	chr7:28076800-28081400	Weak transcription	Right Atrium	heart
12	chr7:28076800-28082200	Enhancers	HSMM	muscle
13	chr7:28076800-28084000	Weak transcription	Aorta	Aorta
14	chr7:28077000-28080800	Enhancers	NHDF-Ad	bronchial
15	chr7:28077200-28081200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:28077400-28080600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:28077400-28083000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:28077400-28084000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:28077400-28094200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr7:28077600-28080800	Enhancers	NHEK	skin
21	chr7:28077600-28097600	Weak transcription	Ovary	ovary
22	chr7:28077600-28102000	Weak transcription	Psoas Muscle	Psoas
23	chr7:28078000-28080600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:28078200-28082400	Enhancers	NHLF	lung
25	chr7:28078400-28080800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr7:28078600-28080800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:28078600-28080800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:28078600-28080800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr7:28078600-28080800	Weak transcription	Hela-S3	cervix
30	chr7:28078600-28081400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:28079000-28080600	Enhancers	A549	lung
32	chr7:28079200-28080800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:28079600-28080800	Enhancers	HMEC	breast
34	chr7:28079600-28080800	Enhancers	Osteobl	bone
35	chr7:28079600-28082000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:28079800-28081200	Enhancers	Placenta Amnion	Placenta Amnion
37	chr7:28079800-28082400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:28080000-28082000	Enhancers	NH-A	brain
39	chr7:28080000-28082600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:28080000-28084400	Strong transcription	Primary B cells from cord blood	blood
41	chr7:28080200-28080400	Enhancers	Fetal Heart	heart
42	chr7:28080200-28082000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:28080200-28082000	Enhancers	Colon Smooth Muscle	Colon

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