Variant report

Variant	rs1373013
Chromosome Location	chr14:32182888-32182889
allele	A/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	STAT3	chr14:32182860-32182982	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
NUBPL	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10131398	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs10131543	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs10132839	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10133374	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10134196	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10138578	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs10138795	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10139898	1.00[CHB][hapmap]
rs10139963	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10140944	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10148949	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs10150219	1.00[ASN][1000 genomes]
rs11156699	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11621147	0.88[YRI][hapmap]
rs11621446	0.88[YRI][hapmap]
rs11624477	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11625312	0.88[YRI][hapmap]
rs12050202	0.80[CEU][hapmap];1.00[CHB][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12050415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12147945	0.85[YRI][hapmap]
rs12435348	0.82[YRI][hapmap]
rs12897779	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1367317	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1373014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1373015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2120134	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2165814	0.88[YRI][hapmap]
rs2378936	0.88[YRI][hapmap]
rs4981115	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4981890	1.00[ASN][1000 genomes]
rs4981892	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4981893	1.00[ASN][1000 genomes]
rs4981913	1.00[ASN][1000 genomes]
rs58117033	1.00[ASN][1000 genomes]
rs59626793	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6571457	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6571461	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146010	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7147785	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7153589	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74043623	1.00[ASN][1000 genomes]
rs8008383	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8009008	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8013999	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8015946	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8018230	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8020297	0.89[CEU][hapmap]
rs9989137	0.90[CEU][hapmap];1.00[CHB][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	nsv934206	chr14:31887749-32257097	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv564180	chr14:31958566-32368934	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv564181	chr14:31958761-32363980	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv901591	chr14:32093548-32202677	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv901592	chr14:32093548-32267323	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv564182	chr14:32110519-32584337	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv1046526	chr14:32110537-32567426	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32148000-32183600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:32159000-32184800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:32162000-32186800	Weak transcription	Brain Hippocampus Middle	brain
4	chr14:32165600-32188200	Weak transcription	Right Ventricle	heart
5	chr14:32171000-32186400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:32171000-32200600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:32172000-32186400	Weak transcription	Pancreas	Pancrea
8	chr14:32172000-32188200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr14:32173000-32183000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:32173400-32186400	Weak transcription	Esophagus	oesophagus
11	chr14:32173400-32189800	Weak transcription	Primary B cells from cord blood	blood
12	chr14:32173400-32218000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:32174200-32185600	Weak transcription	HepG2	liver
14	chr14:32174600-32200000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr14:32175200-32186600	Weak transcription	Primary T cells from cord blood	blood
16	chr14:32175200-32186600	Weak transcription	Adipose Nuclei	Adipose
17	chr14:32175200-32187000	Weak transcription	Aorta	Aorta
18	chr14:32175400-32183200	Weak transcription	Gastric	stomach
19	chr14:32175400-32185200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:32175400-32187000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:32175400-32193400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:32175400-32205600	Weak transcription	Ovary	ovary
23	chr14:32175600-32185200	Weak transcription	Fetal Intestine Small	intestine
24	chr14:32179000-32186200	Weak transcription	Liver	Liver
25	chr14:32181400-32200600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:32181800-32185200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr14:32182000-32183600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:32182000-32183800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:32182000-32185200	Weak transcription	Fetal Stomach	stomach
30	chr14:32182000-32186600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr14:32182600-32183400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr14:32182600-32183400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr14:32182800-32183400	Enhancers	HUES48 Cell Line	embryonic stem cell

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