Variant report

Variant	rs3745210
Chromosome Location	chr19:41242596-41242597
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:41237958..41241632-chr19:41242031..41245847,4	MCF-7	breast:
2	chr19:41241471..41243088-chr19:41248764..41251353,2	MCF-7	breast:
3	chr19:41240039..41244637-chr19:41245242..41248145,6	MCF-7	breast:
4	chr19:41241454..41243061-chr19:41249633..41252530,2	MCF-7	breast:
5	chr19:41222128..41224083-chr19:41242324..41244905,2	K562	blood:
6	chr19:41221101..41225623-chr19:41241412..41243366,4	K562	blood:
7	chr19:41241344..41243749-chr19:41253995..41258058,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188493	Chromatin interaction
ENSG00000123815	Chromatin interaction
ENSG00000077312	Chromatin interaction
ENSG00000086544	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10407351	0.90[ASN][1000 genomes]
rs10425765	0.84[ASN][1000 genomes]
rs11083566	0.90[ASN][1000 genomes]
rs11548478	0.90[ASN][1000 genomes]
rs12976551	0.89[ASN][1000 genomes]
rs2290692	0.90[ASN][1000 genomes]
rs2290693	0.90[ASN][1000 genomes]
rs3745211	0.96[ASN][1000 genomes]
rs3745216	0.82[ASN][1000 genomes]
rs4802086	0.88[ASN][1000 genomes]
rs4802087	0.88[ASN][1000 genomes]
rs4803363	0.83[AFR][1000 genomes]
rs7248468	0.93[ASN][1000 genomes]
rs7248570	0.89[ASN][1000 genomes]
rs7251246	0.83[ASN][1000 genomes]
rs7260405	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	esv1800615	chr19:41127465-41270055	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3745210	ADCK4	cis	Nerve Tibial	GTEx
rs3745210	C19orf54	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41225200-41243200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:41226400-41246200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr19:41226600-41245600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:41226800-41245200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:41226800-41245600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:41226800-41245800	Strong transcription	Fetal Stomach	stomach
7	chr19:41227000-41254600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr19:41227200-41255200	Weak transcription	Fetal Heart	heart
9	chr19:41228000-41246800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:41228200-41246600	Strong transcription	Primary B cells from peripheral blood	blood
11	chr19:41228200-41246800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:41228600-41245400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr19:41228600-41245600	Strong transcription	Fetal Muscle Leg	muscle
14	chr19:41228600-41250000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr19:41228600-41251000	Strong transcription	Fetal Brain Female	brain
16	chr19:41229200-41246800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr19:41229200-41247200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:41229400-41246800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:41229400-41246800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr19:41229400-41249000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr19:41229600-41244000	Strong transcription	Ovary	ovary
22	chr19:41229600-41245600	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr19:41229600-41246800	Strong transcription	Fetal Lung	lung
24	chr19:41229800-41245600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr19:41229800-41246400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr19:41229800-41246800	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr19:41229800-41247000	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr19:41229800-41247000	Strong transcription	Liver	Liver
29	chr19:41229800-41247200	Strong transcription	Primary T cells from cord blood	blood
30	chr19:41229800-41248600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:41229800-41248600	Strong transcription	Dnd41	blood
32	chr19:41229800-41249200	Strong transcription	Thymus	Thymus
33	chr19:41229800-41250400	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr19:41230000-41245000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr19:41230200-41247000	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr19:41230400-41245400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:41230400-41246600	Strong transcription	Left Ventricle	heart
38	chr19:41230400-41247200	Strong transcription	Lung	lung
39	chr19:41230600-41245200	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr19:41230600-41245400	Strong transcription	Stomach Smooth Muscle	stomach
41	chr19:41230800-41245200	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr19:41231000-41245400	Strong transcription	Colon Smooth Muscle	Colon
43	chr19:41231000-41245800	Strong transcription	Brain Hippocampus Middle	brain
44	chr19:41231000-41246200	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr19:41231200-41245200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr19:41231200-41245400	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr19:41231600-41245000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr19:41231600-41245400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr19:41231600-41245400	Strong transcription	Right Ventricle	heart
50	chr19:41231600-41245800	Strong transcription	Adipose Nuclei	Adipose

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