Variant report

Variant	rs13007001
Chromosome Location	chr2:95885744-95885745
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12996789	1.00[CEU][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13015670	1.00[AFR][1000 genomes]
rs13033750	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35034822	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35466766	1.00[AMR][1000 genomes]
rs35803313	1.00[CEU][hapmap]
rs36045840	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71427029	1.00[AMR][1000 genomes];0.90[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	nsv1005016	chr2:95327875-95914467	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv482276	chr2:95711972-95888406	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1008945	chr2:95745367-96062107	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1007627	chr2:95878031-95973743	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv535822	chr2:95878031-95973743	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13007001	ZNF514	cis	lymphoblastoid	seeQTL

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95873600-95886600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:95873800-95886200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:95874200-95885800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:95874200-95890000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:95874400-95886000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:95874400-95886200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:95874400-95886400	ZNF genes & repeats	Fetal Lung	lung
8	chr2:95874400-95886600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:95874400-95887000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:95874400-95887800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:95874400-95888400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr2:95874400-95889600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:95874400-95890000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:95874400-95890800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:95874600-95885800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr2:95874600-95885800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:95874600-95885800	ZNF genes & repeats	Primary B cells from cord blood	blood
18	chr2:95874600-95887400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr2:95874800-95887200	ZNF genes & repeats	Brain Germinal Matrix	brain
20	chr2:95874800-95888400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr2:95875000-95885800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
22	chr2:95875000-95886200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
23	chr2:95875000-95887000	ZNF genes & repeats	Liver	Liver
24	chr2:95875000-95887400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr2:95875000-95892600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
26	chr2:95875200-95892000	ZNF genes & repeats	Adipose Nuclei	Adipose
27	chr2:95875600-95886600	ZNF genes & repeats	Dnd41	blood
28	chr2:95876200-95886400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:95876200-95886400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
30	chr2:95876200-95887200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:95876400-95885800	ZNF genes & repeats	Brain Angular Gyrus	brain
32	chr2:95876400-95886000	ZNF genes & repeats	Colon Smooth Muscle	Colon
33	chr2:95876400-95886000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
34	chr2:95876400-95886000	ZNF genes & repeats	Fetal Muscle Leg	muscle
35	chr2:95876400-95886400	ZNF genes & repeats	Left Ventricle	heart
36	chr2:95876400-95886600	ZNF genes & repeats	Brain Anterior Caudate	brain
37	chr2:95876400-95886600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
38	chr2:95876400-95887000	ZNF genes & repeats	Brain Substantia Nigra	brain
39	chr2:95876400-95888600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
40	chr2:95876400-95890400	ZNF genes & repeats	Fetal Brain Female	brain
41	chr2:95876600-95886400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
42	chr2:95877200-95885800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
43	chr2:95877200-95886000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:95877200-95888400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
45	chr2:95879000-95886400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:95879200-95886400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:95884000-95892000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:95884400-95885800	ZNF genes & repeats	Pancreas	Pancrea
49	chr2:95884400-95886400	ZNF genes & repeats	Fetal Stomach	stomach
50	chr2:95885200-95885800	ZNF genes & repeats	Primary T cells from cord blood	blood

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