Variant report

Variant	rs2229100
Chromosome Location	chr14:20850434-20850435
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10129630	1.00[EUR][1000 genomes]
rs17111188	1.00[EUR][1000 genomes]
rs28498996	1.00[EUR][1000 genomes]
rs3093919	1.00[EUR][1000 genomes]
rs3093929	1.00[EUR][1000 genomes]
rs36219435	1.00[EUR][1000 genomes]
rs61351655	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61455440	1.00[EUR][1000 genomes]
rs7143340	1.00[EUR][1000 genomes]
rs7160712	1.00[EUR][1000 genomes]
rs73583407	1.00[EUR][1000 genomes]
rs73583490	1.00[EUR][1000 genomes]
rs73587007	1.00[EUR][1000 genomes]
rs73587012	1.00[EUR][1000 genomes]
rs74033863	1.00[EUR][1000 genomes]
rs74033868	1.00[EUR][1000 genomes]
rs8005210	1.00[EUR][1000 genomes]
rs8013332	0.81[MKK][hapmap];1.00[EUR][1000 genomes]
rs8016586	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
4	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	nsv534131	chr14:20757405-20886235	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
6	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
7	nsv563846	chr14:20844859-20854238	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2229100	PARP2	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20812400-20880200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:20813200-20869200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:20825200-20863200	Weak transcription	Fetal Heart	heart
4	chr14:20829000-20855800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr14:20829200-20877000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:20829400-20855800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr14:20829400-20876800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr14:20829600-20876800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:20829800-20864800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:20829800-20877400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:20830400-20869000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:20830400-20876800	Strong transcription	Fetal Stomach	stomach
13	chr14:20830400-20877200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:20831000-20860800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:20831000-20860800	Strong transcription	Primary T cells from cord blood	blood
16	chr14:20831000-20868200	Strong transcription	Placenta	Placenta
17	chr14:20831200-20859200	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr14:20831200-20867800	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr14:20831400-20855800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr14:20831400-20877000	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr14:20832000-20873600	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr14:20832200-20855000	Strong transcription	HSMM	muscle
23	chr14:20832200-20855800	Strong transcription	Primary B cells from peripheral blood	blood
24	chr14:20832200-20876800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:20832400-20860200	Strong transcription	Lung	lung
26	chr14:20832400-20865400	Strong transcription	Primary B cells from cord blood	blood
27	chr14:20832600-20877000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr14:20833000-20860800	Strong transcription	Left Ventricle	heart
29	chr14:20833800-20861400	Strong transcription	Osteobl	bone
30	chr14:20833800-20869200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:20834000-20860800	Strong transcription	HSMMtube	muscle
32	chr14:20834000-20865800	Strong transcription	Colon Smooth Muscle	Colon
33	chr14:20834000-20867800	Strong transcription	Stomach Smooth Muscle	stomach
34	chr14:20834000-20868200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:20834000-20868400	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr14:20834000-20870000	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr14:20834000-20876800	Strong transcription	Adipose Nuclei	Adipose
38	chr14:20834200-20856200	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr14:20834200-20860200	Strong transcription	Fetal Thymus	thymus
40	chr14:20834200-20860400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:20834200-20860800	Strong transcription	Brain Anterior Caudate	brain
42	chr14:20834200-20860800	Strong transcription	Dnd41	blood
43	chr14:20834200-20865400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr14:20834200-20876200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr14:20834200-20876600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:20834200-20876800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:20834200-20877000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr14:20834400-20860200	Strong transcription	Esophagus	oesophagus
49	chr14:20834400-20860600	Strong transcription	Spleen	Spleen
50	chr14:20834400-20860800	Strong transcription	Muscle Satellite Cultured Cells	--

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