Variant report

Variant	rs1059238
Chromosome Location	chr14:68144191-68144192
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:68144041-68144385	K562	blood:	n/a	n/a
2	ZNF384	chr14:68144091-68144393	GM12878	blood:	n/a	n/a
3	ZNF384	chr14:68143983-68144282	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68143928..68146779-chr14:68151837..68154515,2	K562	blood:
2	chr14:68141666..68146397-chr14:68146586..68151737,7	K562	blood:
3	chr14:68143928..68146779-chr14:68151837..68154556,3	K562	blood:
4	chr14:68143497..68145467-chr14:68232189..68234111,2	MCF-7	breast:
5	chr14:68139320..68145896-chr14:68154797..68164104,19	MCF-7	breast:
6	chr14:68139715..68143124-chr14:68143351..68148524,6	K562	blood:

No data

Variant related genes	Relation type
VTI1B	TF binding region
ENSG00000258466	Chromatin interaction
ENSG00000072042	Chromatin interaction
ENSG00000100568	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10459532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1120877	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11620761	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11622441	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11623700	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11623711	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11623785	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11623961	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11624498	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11624868	0.86[EUR][1000 genomes]
rs11625839	0.91[EUR][1000 genomes]
rs11627201	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11628860	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12050393	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1555193	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17104490	0.83[CEU][hapmap];0.95[GIH][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes]
rs17104526	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17104544	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17104550	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17104597	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17104621	0.84[AMR][1000 genomes]
rs17249472	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17852293	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1955472	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1955473	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2234511	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2320029	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28390085	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28532066	0.83[EUR][1000 genomes]
rs28873201	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3742880	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3742881	0.92[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899221	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4899222	0.83[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4902506	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902508	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4902511	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4902512	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55900323	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56244142	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56256221	0.86[EUR][1000 genomes]
rs60581344	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6573790	0.91[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap]
rs6573794	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6573795	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7140310	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7142897	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144076	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7144124	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7144186	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs7148327	0.83[CEU][hapmap]
rs7151205	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7151230	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs7152326	0.91[CEU][hapmap];0.96[EUR][1000 genomes]
rs7155788	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7159889	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72721082	0.86[EUR][1000 genomes]
rs72721090	0.89[EUR][1000 genomes]
rs72723111	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72723115	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72723122	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72723126	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72723137	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72723144	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723150	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72723152	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72723154	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72723155	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72723156	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72723158	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72723160	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72723163	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72723166	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72723167	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs742865	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs761513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761514	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8009250	0.94[EUR][1000 genomes]
rs8013767	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8017147	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8017326	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8019831	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8020591	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1059238	ZBTB1	cis	cerebellum	SCAN
rs1059238	C14orf162	cis	parietal	SCAN
rs1059238	RDH11	Cis_1M	lymphoblastoid	RTeQTL
rs1059238	ATP6V1D	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68142000-68157000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:68142200-68144200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:68142200-68144200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr14:68142200-68144200	Weak transcription	Primary B cells from cord blood	blood
5	chr14:68142200-68144200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:68142200-68144200	Weak transcription	Ovary	ovary
7	chr14:68142200-68144400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:68142200-68144400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:68142200-68144400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:68142200-68144400	Weak transcription	Aorta	Aorta
11	chr14:68142200-68144400	Weak transcription	Esophagus	oesophagus
12	chr14:68142200-68144400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:68142200-68147000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr14:68142200-68147800	Weak transcription	Small Intestine	intestine
15	chr14:68142200-68149600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr14:68142200-68149800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr14:68142200-68155200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr14:68142200-68155400	Weak transcription	Colonic Mucosa	Colon
19	chr14:68142400-68144200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr14:68142400-68144200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:68142400-68144200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:68142400-68144200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:68142400-68144200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr14:68142400-68144200	Weak transcription	Primary T cells from cord blood	blood
25	chr14:68142400-68144200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr14:68142400-68144200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr14:68142400-68144200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr14:68142400-68144200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr14:68142400-68144200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr14:68142400-68144200	Weak transcription	Brain Angular Gyrus	brain
31	chr14:68142400-68144200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr14:68142400-68144200	Weak transcription	Brain Germinal Matrix	brain
33	chr14:68142400-68144200	Weak transcription	Brain Hippocampus Middle	brain
34	chr14:68142400-68144200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr14:68142400-68144200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:68142400-68144200	Weak transcription	Brain Substantia Nigra	brain
37	chr14:68142400-68144200	Weak transcription	Fetal Kidney	kidney
38	chr14:68142400-68144200	Weak transcription	Fetal Lung	lung
39	chr14:68142400-68144200	Weak transcription	Placenta	Placenta
40	chr14:68142400-68144200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr14:68142400-68144200	Weak transcription	Spleen	Spleen
42	chr14:68142400-68144200	Weak transcription	GM12878-XiMat	blood
43	chr14:68142400-68144200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr14:68142400-68144200	Weak transcription	Osteobl	bone
45	chr14:68142400-68144400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:68142400-68144400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr14:68142400-68144400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:68142400-68144400	Weak transcription	Fetal Brain Male	brain
49	chr14:68142400-68144400	Weak transcription	Fetal Intestine Large	intestine
50	chr14:68142400-68144400	Weak transcription	Left Ventricle	heart

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