Variant report

Variant	rs10748706
Chromosome Location	chr10:99480959-99480960
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	chr10:99477505..99481349-chr10:99484055..99486700,3	MCF-7	breast:
2	chr10:99476464..99480454-chr10:99480682..99484335,5	K562	blood:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11189342	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12415272	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4919133	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4919135	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6584148	0.82[AMR][1000 genomes]
rs6584149	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7896853	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7900119	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7914697	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7915100	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv519864	chr10:99478081-99486644	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10748706	MARVELD1	cis	Thyroid	GTEx
rs10748706	MARVELD1	cis	Skin Sun Exposed Lower leg	GTEx
rs10748706	MARVELD1	cis	lung	GTEx

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99476200-99486600	Weak transcription	Ovary	ovary
2	chr10:99476600-99486200	Weak transcription	HUVEC	blood vessel
3	chr10:99477200-99486200	Weak transcription	NH-A	brain
4	chr10:99478200-99482400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr10:99478400-99482200	Weak transcription	Dnd41	blood
6	chr10:99478400-99486400	Weak transcription	Aorta	Aorta
7	chr10:99478800-99481000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr10:99478800-99486600	Weak transcription	HSMMtube	muscle
9	chr10:99478800-99496400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr10:99479000-99484000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr10:99479000-99484000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr10:99479000-99486200	Weak transcription	Fetal Heart	heart
13	chr10:99479200-99482600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr10:99479200-99483800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr10:99479200-99484000	Weak transcription	NHLF	lung
16	chr10:99479200-99486200	Weak transcription	Adipose Nuclei	Adipose
17	chr10:99479200-99486400	Weak transcription	Liver	Liver
18	chr10:99479400-99481600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr10:99479400-99491200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr10:99479600-99481000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr10:99479600-99481000	Weak transcription	Fetal Stomach	stomach
22	chr10:99479600-99481600	Weak transcription	Fetal Intestine Small	intestine
23	chr10:99479600-99481800	Weak transcription	Stomach Mucosa	stomach
24	chr10:99479600-99482200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr10:99479600-99482200	Weak transcription	Placenta	Placenta
26	chr10:99479600-99482200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr10:99479600-99482400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr10:99479600-99483000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr10:99479600-99484000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr10:99479600-99484000	Weak transcription	A549	lung
31	chr10:99479600-99484000	Weak transcription	K562	blood
32	chr10:99479600-99484200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr10:99479600-99486200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr10:99479600-99486200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr10:99479600-99486200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr10:99479600-99486400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr10:99479600-99486400	Weak transcription	Brain Substantia Nigra	brain
38	chr10:99479600-99486400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr10:99479600-99486400	Weak transcription	Fetal Lung	lung
40	chr10:99479600-99486400	Weak transcription	Fetal Muscle Leg	muscle
41	chr10:99479600-99486400	Weak transcription	HSMM	muscle
42	chr10:99479600-99487000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr10:99479800-99481600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr10:99479800-99481800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr10:99479800-99482800	Weak transcription	NHEK	skin
46	chr10:99479800-99484000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr10:99479800-99484000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr10:99479800-99484000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr10:99479800-99484000	Weak transcription	HMEC	breast
50	chr10:99479800-99484000	Weak transcription	Osteobl	bone

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