Variant report

Variant	rs1898320
Chromosome Location	chr14:69308182-69308183
allele	A/G
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	FOS	chr14:69307756-69308391	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69257443..69263267-chr14:69305982..69312258,9	MCF-7	breast:
2	chr14:69259380..69263857-chr14:69306830..69310059,5	MCF-7	breast:

Variant related genes	Relation type
RN7SL224P	TF binding region
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10139199	1.00[ASN][1000 genomes]
rs12147199	1.00[ASN][1000 genomes]
rs12147461	1.00[ASN][1000 genomes]
rs12587831	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12590165	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1274955	1.00[ASN][1000 genomes]
rs17757282	1.00[MKK][hapmap]
rs194713	1.00[ASN][1000 genomes]
rs194742	0.93[EUR][1000 genomes]
rs194743	1.00[ASN][1000 genomes]
rs2164627	1.00[ASN][1000 genomes]
rs4899260	1.00[ASN][1000 genomes]
rs4899262	1.00[ASN][1000 genomes]
rs4902649	1.00[ASN][1000 genomes]
rs4902652	1.00[ASN][1000 genomes]
rs55885232	1.00[ASN][1000 genomes]
rs56020080	1.00[ASN][1000 genomes]
rs56119720	1.00[ASN][1000 genomes]
rs58638884	1.00[ASN][1000 genomes]
rs72731537	1.00[ASN][1000 genomes]
rs72731539	1.00[ASN][1000 genomes]
rs72731544	1.00[ASN][1000 genomes]
rs72731547	1.00[ASN][1000 genomes]
rs72731549	1.00[ASN][1000 genomes]
rs72731550	1.00[ASN][1000 genomes]
rs72731551	1.00[ASN][1000 genomes]
rs72731554	1.00[ASN][1000 genomes]
rs72731565	1.00[ASN][1000 genomes]
rs72731567	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731576	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731577	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731579	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731581	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72731587	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8019383	1.00[ASN][1000 genomes]
rs971290	1.00[ASN][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	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
4	nsv902071	chr14:69288432-69328594	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv902072	chr14:69288432-69329149	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv902073	chr14:69288432-69331065	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv2755940	chr14:69301705-69318262	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1898320	ZBTB1	cis	cerebellum	SCAN
rs1898320	KIAA0247	cis	parietal	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69302200-69308200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:69303200-69310000	Weak transcription	Ovary	ovary
3	chr14:69305400-69310000	Weak transcription	Right Ventricle	heart
4	chr14:69305600-69308200	Weak transcription	Fetal Stomach	stomach
5	chr14:69305800-69310200	Weak transcription	Lung	lung
6	chr14:69305800-69310400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:69306400-69308600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:69306400-69310200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:69306400-69310600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:69306400-69331200	Weak transcription	Aorta	Aorta
11	chr14:69307200-69308600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:69307200-69308800	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr14:69307200-69308800	Enhancers	HMEC	breast
14	chr14:69307200-69309000	Enhancers	NHLF	lung
15	chr14:69307200-69310800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:69307400-69308400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:69307400-69308400	Enhancers	Primary T cells fromperipheralblood	blood
18	chr14:69307400-69308600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:69307400-69308600	Enhancers	NHEK	skin
20	chr14:69307400-69308800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr14:69307400-69309200	Enhancers	HUVEC	blood vessel
22	chr14:69307400-69310200	Enhancers	Colon Smooth Muscle	Colon
23	chr14:69307400-69310400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:69307400-69311200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr14:69307600-69308400	Enhancers	Esophagus	oesophagus
26	chr14:69307600-69308600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:69307600-69308600	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr14:69307600-69308600	Enhancers	Stomach Smooth Muscle	stomach
29	chr14:69307600-69308800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr14:69307600-69309800	Enhancers	NH-A	brain
31	chr14:69307600-69310200	Enhancers	Rectal Smooth Muscle	rectum
32	chr14:69307600-69310400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:69307800-69308200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:69307800-69308400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:69307800-69308400	Enhancers	Primary T cells from cord blood	blood
36	chr14:69307800-69308400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr14:69307800-69308600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:69307800-69310000	Weak transcription	Left Ventricle	heart
39	chr14:69307800-69310200	Weak transcription	GM12878-XiMat	blood
40	chr14:69307800-69320400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:69307800-69331000	Weak transcription	HSMMtube	muscle
42	chr14:69308000-69308200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr14:69308000-69308400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:69308000-69308400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr14:69308000-69308400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:69308000-69308400	Enhancers	HSMM	muscle
47	chr14:69308000-69308800	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr14:69308000-69308800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr14:69308000-69308800	Enhancers	Osteobl	bone
50	chr14:69308000-69309000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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