Variant report

Variant	rs10748708
Chromosome Location	chr10:99501203-99501204
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:99499187..99502135-chr10:99502777..99505222,2	MCF-7	breast:
2	chr10:99500286..99501793-chr10:99503721..99505250,2	MCF-7	breast:
3	chr10:99500710..99504055-chr10:99516731..99520441,4	K562	blood:
4	chr10:99445609..99447158-chr10:99500562..99503071,2	MCF-7	breast:
5	chr10:99496240..99498427-chr10:99498501..99501523,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155256	Chromatin interaction
ENSG00000119986	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10786367	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10786370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882993	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10882994	0.80[EUR][1000 genomes]
rs11189350	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11189352	0.83[EUR][1000 genomes]
rs11189361	0.83[ASN][1000 genomes]
rs11189362	0.85[ASN][1000 genomes]
rs1981237	0.86[ASN][1000 genomes]
rs2027376	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3750612	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3750615	0.83[EUR][1000 genomes]
rs3814559	0.86[ASN][1000 genomes]
rs3814560	0.86[ASN][1000 genomes]
rs4244329	0.86[ASN][1000 genomes]
rs4917784	0.83[ASN][1000 genomes]
rs4917785	0.83[ASN][1000 genomes]
rs7077725	0.85[ASN][1000 genomes]
rs7080894	0.90[ASN][1000 genomes]
rs7080953	0.89[ASN][1000 genomes]
rs7907679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7916164	0.85[ASN][1000 genomes]
rs7916593	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7922907	0.93[ASN][1000 genomes]
rs883324	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[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
rs10748708	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	chr10:99498000-99502000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr10:99498000-99507800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:99498200-99502600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:99498200-99503600	Strong transcription	Fetal Lung	lung
6	chr10:99498200-99507000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr10:99498200-99509000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr10:99498200-99520600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr10:99498400-99501600	Weak transcription	Colonic Mucosa	Colon
10	chr10:99498400-99502000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr10:99498400-99502600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr10:99498400-99504000	Weak transcription	Small Intestine	intestine
13	chr10:99498400-99514800	Strong transcription	Fetal Stomach	stomach
14	chr10:99498400-99517600	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr10:99498400-99519000	Strong transcription	Fetal Intestine Large	intestine
16	chr10:99498400-99519200	Strong transcription	Fetal Muscle Trunk	muscle
17	chr10:99498600-99501600	Weak transcription	Spleen	Spleen
18	chr10:99498600-99502000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr10:99498600-99502000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr10:99498600-99502000	Weak transcription	Aorta	Aorta
21	chr10:99498600-99502000	Weak transcription	Esophagus	oesophagus
22	chr10:99498600-99502000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr10:99498600-99502600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr10:99498600-99502600	Strong transcription	Liver	Liver
25	chr10:99498600-99502600	Weak transcription	Brain Angular Gyrus	brain
26	chr10:99498600-99502600	Weak transcription	Brain Substantia Nigra	brain
27	chr10:99498600-99502600	Weak transcription	Gastric	stomach
28	chr10:99498600-99502600	Strong transcription	NHEK	skin
29	chr10:99498600-99502800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:99498600-99502800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr10:99498600-99502800	Weak transcription	Colon Smooth Muscle	Colon
32	chr10:99498600-99502800	Weak transcription	Right Atrium	heart
33	chr10:99498600-99504400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr10:99498600-99514800	Strong transcription	Fetal Muscle Leg	muscle
35	chr10:99498600-99517800	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr10:99498600-99518000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr10:99498600-99518000	Strong transcription	Fetal Thymus	thymus
38	chr10:99498600-99520200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr10:99498600-99520600	Strong transcription	Osteobl	bone
40	chr10:99498600-99522200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr10:99498600-99522400	Strong transcription	Duodenum Mucosa	Duodenum
42	chr10:99498600-99522400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr10:99498600-99523000	Strong transcription	Thymus	Thymus
44	chr10:99498600-99523600	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr10:99498600-99524800	Weak transcription	Fetal Brain Male	brain
46	chr10:99498800-99501600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr10:99498800-99501600	Weak transcription	Pancreas	Pancrea
48	chr10:99498800-99502600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr10:99498800-99506000	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr10:99498800-99522400	Strong transcription	Dnd41	blood

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