Variant report

Variant	rs10748707
Chromosome Location	chr10:99499363-99499364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10786368	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10786369	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1253023	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3818876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3829137	0.81[CEU][hapmap]
rs4593946	0.84[CEU][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4917783	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4917784	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4917785	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7076831	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs946779	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs946780	0.83[CEU][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.89[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10748707	MARVELD1	cis	lung	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99497600-99522600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:99498000-99499800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:99498000-99499800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr10:99498000-99501000	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr10:99498000-99502000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:99498000-99507800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:99498200-99499400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr10:99498200-99499400	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr10:99498200-99499400	Weak transcription	Fetal Kidney	kidney
10	chr10:99498200-99499600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr10:99498200-99500800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr10:99498200-99501000	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr10:99498200-99502600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr10:99498200-99503600	Strong transcription	Fetal Lung	lung
15	chr10:99498200-99507000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr10:99498200-99509000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr10:99498200-99520600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:99498400-99499400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr10:99498400-99499400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr10:99498400-99499400	Weak transcription	NH-A	brain
21	chr10:99498400-99499600	Weak transcription	Stomach Mucosa	stomach
22	chr10:99498400-99500200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr10:99498400-99500600	Genic enhancers	HepG2	liver
24	chr10:99498400-99501000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr10:99498400-99501600	Weak transcription	Colonic Mucosa	Colon
26	chr10:99498400-99502000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr10:99498400-99502600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr10:99498400-99504000	Weak transcription	Small Intestine	intestine
29	chr10:99498400-99514800	Strong transcription	Fetal Stomach	stomach
30	chr10:99498400-99517600	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr10:99498400-99519000	Strong transcription	Fetal Intestine Large	intestine
32	chr10:99498400-99519200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr10:99498600-99499400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr10:99498600-99499400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr10:99498600-99499400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr10:99498600-99499400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr10:99498600-99499400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr10:99498600-99499400	Weak transcription	Brain Anterior Caudate	brain
39	chr10:99498600-99499400	Weak transcription	Right Ventricle	heart
40	chr10:99498600-99499400	Weak transcription	HSMMtube	muscle
41	chr10:99498600-99499600	Weak transcription	Primary B cells from cord blood	blood
42	chr10:99498600-99499600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr10:99498600-99499600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr10:99498600-99499600	Weak transcription	Brain Hippocampus Middle	brain
45	chr10:99498600-99499600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr10:99498600-99499600	Weak transcription	Placenta	Placenta
47	chr10:99498600-99499600	Weak transcription	Left Ventricle	heart
48	chr10:99498600-99499600	Weak transcription	Ovary	ovary
49	chr10:99498600-99499800	Weak transcription	Brain Germinal Matrix	brain
50	chr10:99498600-99499800	Weak transcription	Brain Inferior Temporal Lobe	brain

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