Variant report

Variant	rs2945986
Chromosome Location	chr19:36939796-36939797
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10413697	1.00[AMR][1000 genomes]
rs10417344	1.00[AMR][1000 genomes]
rs10422700	1.00[AMR][1000 genomes]
rs2912407	1.00[AMR][1000 genomes]
rs2912409	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2912413	1.00[MEX][hapmap]
rs2912418	1.00[AMR][1000 genomes]
rs2967425	1.00[AMR][1000 genomes]
rs2967426	1.00[AMR][1000 genomes]
rs2967428	1.00[MEX][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs2967430	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs2967538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59951429	1.00[AMR][1000 genomes]
rs73607078	1.00[AMR][1000 genomes]
rs73609981	1.00[AMR][1000 genomes]
rs73612010	1.00[AMR][1000 genomes]
rs73612013	1.00[AMR][1000 genomes]
rs73612039	1.00[AMR][1000 genomes]
rs73612047	1.00[AMR][1000 genomes]
rs73612050	1.00[AMR][1000 genomes]
rs73612052	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1066026	chr19:36878441-36947928	ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv1067101	chr19:36901010-36956251	ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv911648	chr19:36914171-37047472	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv1067364	chr19:36921204-36985874	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2945986	DNAJC5B	trans	lymphoblastoid	seeQTL

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36931800-36946800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr19:36934200-36950000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:36934400-36944000	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:36934400-36946600	ZNF genes & repeats	Liver	Liver
5	chr19:36934800-36939800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr19:36936000-36950000	ZNF genes & repeats	Fetal Brain Female	brain
7	chr19:36936200-36942600	ZNF genes & repeats	Fetal Brain Male	brain
8	chr19:36936200-36943600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr19:36936200-36949600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:36936400-36943600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr19:36936400-36943600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
12	chr19:36936400-36946600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
13	chr19:36936400-36978400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:36936800-36940000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr19:36936800-36943800	ZNF genes & repeats	A549	lung
16	chr19:36936800-36944200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:36937200-36943600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
18	chr19:36937600-36940000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr19:36937600-36942600	ZNF genes & repeats	Colon Smooth Muscle	Colon
20	chr19:36937600-36943000	ZNF genes & repeats	Psoas Muscle	Psoas
21	chr19:36937800-36943400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:36937800-36943600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
23	chr19:36937800-36944200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:36938000-36943600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
25	chr19:36938000-36943800	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr19:36938000-36946600	ZNF genes & repeats	Brain Germinal Matrix	brain
27	chr19:36938200-36939800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:36938200-36939800	Weak transcription	Stomach Mucosa	stomach
29	chr19:36938200-36940000	Weak transcription	Left Ventricle	heart
30	chr19:36938200-36940000	Weak transcription	Pancreas	Pancrea
31	chr19:36938200-36940200	Weak transcription	Fetal Stomach	stomach
32	chr19:36938200-36941200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:36938200-36942600	ZNF genes & repeats	HSMM	muscle
34	chr19:36938200-36943600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
35	chr19:36938200-36943800	ZNF genes & repeats	Dnd41	blood
36	chr19:36938200-36944000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:36938200-36944200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:36938200-36946000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
39	chr19:36938200-36947200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
40	chr19:36938200-36952200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:36938400-36939800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr19:36938400-36940200	Weak transcription	Fetal Thymus	thymus
43	chr19:36938400-36942600	ZNF genes & repeats	NH-A	brain
44	chr19:36938400-36942800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
45	chr19:36938400-36943600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
46	chr19:36938400-36946000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:36938400-36946400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
48	chr19:36938400-36946600	ZNF genes & repeats	Fetal Lung	lung
49	chr19:36938400-36951200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr19:36938600-36939800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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