Variant report

Variant	rs7527059
Chromosome Location	chr1:211775742-211775743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211767890..211769411-chr1:211775688..211777230,2	MCF-7	breast:
2	chr1:211750136..211754035-chr1:211775376..211778750,5	MCF-7	breast:
3	chr1:211772283..211774202-chr1:211774309..211776934,2	MCF-7	breast:
4	chr1:211749761..211758387-chr1:211774495..211787871,24	K562	blood:
5	chr1:211749584..211755940-chr1:211774898..211785859,28	K562	blood:
6	chr1:211775675..211778278-chr1:211779018..211782912,5	K562	blood:
7	chr1:211775676..211777293-chr1:211832136..211834585,2	K562	blood:

Variant related genes	Relation type
ENSG00000261314	Chromatin interaction
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11806637	0.92[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56347659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59394132	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429875	0.81[CEU][hapmap];0.88[TSI][hapmap]

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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7527059	DTL	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211771600-211786200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:211771800-211776000	Weak transcription	Osteobl	bone
3	chr1:211772200-211778000	Enhancers	Placenta	Placenta
4	chr1:211772600-211780600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:211773200-211776000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:211775200-211775800	Enhancers	Fetal Intestine Large	intestine
7	chr1:211775200-211776400	Enhancers	HepG2	liver
8	chr1:211775200-211776800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:211775200-211777000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr1:211775200-211777400	Enhancers	NHDF-Ad	bronchial
11	chr1:211775200-211777600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:211775200-211778600	Enhancers	Fetal Intestine Small	intestine
13	chr1:211775400-211776200	Enhancers	Primary hematopoietic stem cells	blood
14	chr1:211775400-211776400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:211775400-211776400	Enhancers	Stomach Mucosa	stomach
16	chr1:211775400-211777000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr1:211775400-211777000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr1:211775400-211777000	Enhancers	Hela-S3	cervix
19	chr1:211775400-211777400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:211775400-211777400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:211775400-211777600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:211775400-211777600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:211775400-211777600	Enhancers	Duodenum Mucosa	Duodenum
24	chr1:211775400-211777600	Enhancers	HMEC	breast
25	chr1:211775400-211777600	Enhancers	NHEK	skin
26	chr1:211775400-211778000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:211775400-211778400	Enhancers	Liver	Liver
28	chr1:211775400-211778800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr1:211775600-211775800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr1:211775600-211775800	Genic enhancers	K562	blood
31	chr1:211775600-211776200	Enhancers	Fetal Lung	lung
32	chr1:211775600-211776200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr1:211775600-211777000	Enhancers	Adipose Nuclei	Adipose
34	chr1:211775600-211777200	Enhancers	NHLF	lung

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