Variant report

Variant	rs1253023
Chromosome Location	chr10:99488661-99488662
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:99488183..99489718-chr10:99490230..99493190,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10786368	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10786369	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10882992	0.82[AMR][1000 genomes]
rs3818876	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4593946	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4917783	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4917784	0.81[AMR][1000 genomes]
rs4917785	0.81[AMR][1000 genomes]
rs7076831	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs946779	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs946780	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[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	esv1817777	chr10:99196035-99558169	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv467441	chr10:99472710-99541104	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv552026	chr10:99472710-99541104	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1253023	MARVELD1	cis	Thyroid	GTEx
rs1253023	MARVELD1	cis	lung	GTEx
rs1253023	MARVELD1	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99478800-99496400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr10:99479400-99491200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:99484600-99488800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr10:99486800-99491200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr10:99486800-99491200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr10:99486800-99491200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr10:99486800-99491200	Weak transcription	Brain Substantia Nigra	brain
8	chr10:99486800-99491200	Weak transcription	NHLF	lung
9	chr10:99486800-99491400	Weak transcription	HSMM	muscle
10	chr10:99486800-99491600	Weak transcription	HSMMtube	muscle
11	chr10:99486800-99496000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr10:99486800-99496200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr10:99486800-99496400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:99486800-99496400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr10:99486800-99496400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr10:99486800-99496400	Weak transcription	Pancreas	Pancrea
17	chr10:99486800-99496600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr10:99487000-99491200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr10:99487000-99491200	Weak transcription	NHDF-Ad	bronchial
20	chr10:99487000-99491600	Weak transcription	HMEC	breast
21	chr10:99487000-99491800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr10:99487000-99496000	Weak transcription	K562	blood
23	chr10:99487000-99496400	Weak transcription	Brain Anterior Caudate	brain
24	chr10:99487000-99496400	Weak transcription	Colon Smooth Muscle	Colon
25	chr10:99487000-99496400	Weak transcription	A549	lung
26	chr10:99487200-99491200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:99487200-99491200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr10:99487200-99491400	Weak transcription	Osteobl	bone
29	chr10:99487200-99496400	Weak transcription	NHEK	skin
30	chr10:99487200-99496600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr10:99487600-99491200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr10:99487600-99496000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr10:99488600-99489200	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr10:99488600-99489400	Enhancers	Primary monocytes fromperipheralblood	blood

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