Variant report

Variant	rs1965715
Chromosome Location	chr19:41235393-41235394
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2561536	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2607420	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6508945	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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
rs1965715	ADCK4	cis	Nerve Tibial	GTEx
rs1965715	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	chr19:41225200-41238800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:41225200-41243200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:41225800-41236400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr19:41226400-41246200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr19:41226600-41238600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr19:41226600-41245600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:41226800-41236600	Weak transcription	GM12878-XiMat	blood
8	chr19:41226800-41245200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr19:41226800-41245600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:41226800-41245800	Strong transcription	Fetal Stomach	stomach
11	chr19:41227000-41254600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr19:41227200-41237000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr19:41227200-41255200	Weak transcription	Fetal Heart	heart
14	chr19:41228000-41246800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:41228200-41238000	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr19:41228200-41241400	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr19:41228200-41246600	Strong transcription	Primary B cells from peripheral blood	blood
18	chr19:41228200-41246800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:41228600-41236000	Weak transcription	Fetal Brain Male	brain
20	chr19:41228600-41236400	Weak transcription	NHDF-Ad	bronchial
21	chr19:41228600-41237200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr19:41228600-41238800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr19:41228600-41240000	Weak transcription	Stomach Mucosa	stomach
24	chr19:41228600-41240400	Strong transcription	HepG2	liver
25	chr19:41228600-41241200	Strong transcription	A549	lung
26	chr19:41228600-41245400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr19:41228600-41245600	Strong transcription	Fetal Muscle Leg	muscle
28	chr19:41228600-41250000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:41228600-41251000	Strong transcription	Fetal Brain Female	brain
30	chr19:41229200-41240800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr19:41229200-41246800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr19:41229200-41247200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr19:41229400-41241200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr19:41229400-41246800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:41229400-41246800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr19:41229400-41249000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr19:41229600-41242000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr19:41229600-41244000	Strong transcription	Ovary	ovary
39	chr19:41229600-41245600	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr19:41229600-41246800	Strong transcription	Fetal Lung	lung
41	chr19:41229800-41235600	Strong transcription	NHLF	lung
42	chr19:41229800-41237400	Strong transcription	Primary B cells from cord blood	blood
43	chr19:41229800-41239200	Strong transcription	Spleen	Spleen
44	chr19:41229800-41241200	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr19:41229800-41245600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr19:41229800-41246400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr19:41229800-41246800	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr19:41229800-41247000	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr19:41229800-41247000	Strong transcription	Liver	Liver
50	chr19:41229800-41247200	Strong transcription	Primary T cells from cord blood	blood

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