Variant report

Variant	rs17119148
Chromosome Location	chr2:95880005-95880006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr2:95879426-95882438	K562	blood:	n/a	n/a
2	ZNF274	chr2:95880005-95881738	GM08714	blood:	n/a	n/a
3	ZNF274	chr2:95879271-95883350	K562	blood:	n/a	n/a
4	SETDB1	chr2:95879829-95882150	U2OS	brain:	n/a	n/a
5	KAP1	chr2:95879975-95882018	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000233757	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10195614	0.85[EUR][1000 genomes]
rs1104775	0.87[EUR][1000 genomes]
rs11164122	0.87[CEU][hapmap]
rs11897976	0.90[CEU][hapmap]
rs12992066	0.85[EUR][1000 genomes]
rs1559483	0.87[CEU][hapmap]
rs1862897	0.90[CEU][hapmap]
rs1875402	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1966272	0.97[EUR][1000 genomes]
rs2001254	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2010533	0.90[EUR][1000 genomes]
rs2042477	0.91[CEU][hapmap]
rs2098768	0.97[EUR][1000 genomes]
rs2113417	0.90[CEU][hapmap]
rs2291991	0.81[EUR][1000 genomes]
rs2320339	0.88[EUR][1000 genomes]
rs2320619	0.83[EUR][1000 genomes]
rs2320620	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[EUR][1000 genomes]
rs2320621	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2320624	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3105098	0.82[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap]
rs3105099	0.82[JPT][hapmap]
rs3105100	0.84[EUR][1000 genomes]
rs3105101	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes]
rs3105102	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3105104	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3105105	0.95[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3112221	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3112222	0.87[EUR][1000 genomes]
rs3112223	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3112225	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3112228	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3112229	0.85[CEU][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3112230	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3112231	0.89[EUR][1000 genomes]
rs3112982	0.95[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs3112983	0.95[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.81[EUR][1000 genomes]
rs3112984	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs3112985	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes]
rs3112986	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes]
rs3112987	0.85[EUR][1000 genomes]
rs3112995	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3112996	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3112997	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3112999	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3113000	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3113001	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3113002	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs3755520	0.86[CEU][hapmap]
rs3755521	0.82[CEU][hapmap]
rs3755523	0.86[CEU][hapmap]
rs3755525	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs3772031	0.90[CEU][hapmap]
rs3772032	0.90[CEU][hapmap]
rs3772033	0.90[CEU][hapmap]
rs3772041	0.86[CEU][hapmap]
rs3772042	0.86[CEU][hapmap]
rs3772043	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs3772044	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs3821341	0.81[CEU][hapmap]
rs4241315	0.95[CEU][hapmap];0.80[CHB][hapmap]
rs4854243	0.85[EUR][1000 genomes]
rs4854244	0.82[EUR][1000 genomes]
rs4854247	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4854249	0.96[EUR][1000 genomes]
rs6577012	0.86[CEU][hapmap]
rs6577013	0.86[CEU][hapmap]
rs6715813	0.86[CEU][hapmap]
rs6719098	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6723333	0.82[EUR][1000 genomes]
rs6725821	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6741001	0.91[CEU][hapmap]
rs6750542	0.91[CEU][hapmap]
rs7565772	0.95[CEU][hapmap];0.80[CHB][hapmap]
rs7574862	0.86[CEU][hapmap]
rs7580685	0.86[CEU][hapmap]
rs7585473	0.85[EUR][1000 genomes]
rs7585914	0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes]
rs7586229	0.86[EUR][1000 genomes]
rs7594144	0.89[CEU][hapmap];0.83[JPT][hapmap]
rs870393	0.81[CEU][hapmap]
rs872580	0.95[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs889851	0.86[CEU][hapmap]
rs889852	0.86[CEU][hapmap]
rs889853	0.87[CEU][hapmap]
rs918811	0.90[CEU][hapmap]
rs9678800	0.90[CEU][hapmap]
rs9989786	0.85[CEU][hapmap]

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
rs17119148	PROM2	cis	Artery Tibial	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

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	chr2:95874000-95884000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
4	chr2:95874200-95885800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:95874200-95890000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:95874400-95882200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
7	chr2:95874400-95886000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:95874400-95886200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:95874400-95886400	ZNF genes & repeats	Fetal Lung	lung
10	chr2:95874400-95886600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:95874400-95887000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:95874400-95887800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:95874400-95888400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
14	chr2:95874400-95889600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:95874400-95890000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:95874400-95890800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:95874600-95885800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr2:95874600-95885800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:95874600-95885800	ZNF genes & repeats	Primary B cells from cord blood	blood
20	chr2:95874600-95887400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
21	chr2:95874800-95887200	ZNF genes & repeats	Brain Germinal Matrix	brain
22	chr2:95874800-95888400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr2:95875000-95883400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
24	chr2:95875000-95884800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr2:95875000-95885800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
26	chr2:95875000-95886200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr2:95875000-95887000	ZNF genes & repeats	Liver	Liver
28	chr2:95875000-95887400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr2:95875000-95892600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr2:95875200-95884000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
31	chr2:95875200-95884800	ZNF genes & repeats	Primary T cells from cord blood	blood
32	chr2:95875200-95892000	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr2:95875600-95886600	ZNF genes & repeats	Dnd41	blood
34	chr2:95876200-95881400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
35	chr2:95876200-95881400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
36	chr2:95876200-95881400	ZNF genes & repeats	A549	lung
37	chr2:95876200-95881600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
38	chr2:95876200-95883400	ZNF genes & repeats	Fetal Brain Male	brain
39	chr2:95876200-95883600	ZNF genes & repeats	Psoas Muscle	Psoas
40	chr2:95876200-95884000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
41	chr2:95876200-95884600	ZNF genes & repeats	Right Ventricle	heart
42	chr2:95876200-95885600	ZNF genes & repeats	Brain Hippocampus Middle	brain
43	chr2:95876200-95886400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:95876200-95886400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
45	chr2:95876200-95887200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:95876400-95881200	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
47	chr2:95876400-95881200	ZNF genes & repeats	Osteobl	bone
48	chr2:95876400-95881400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:95876400-95881400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:95876400-95881400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon

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