Variant report

Variant	rs7146383
Chromosome Location	chr14:32312297-32312298
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	CEBPB	chr14:32312135-32312464	Hela-S3	cervix:	n/a	n/a
2	EP300	chr14:32312169-32312420	Hela-S3	cervix:	n/a	n/a
3	ELK1	chr14:32312276-32312298	Hela-S3	cervix:	n/a	n/a
4	MAX	chr14:32312176-32312492	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
NUBPL	TF binding region

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10132352	0.96[AFR][1000 genomes]
rs10143144	1.00[CEU][hapmap]
rs10147479	0.81[EUR][1000 genomes]
rs10148038	1.00[CEU][hapmap]
rs10149668	1.00[CEU][hapmap]
rs10150831	1.00[CEU][hapmap]
rs10151156	1.00[CEU][hapmap]
rs10151379	1.00[CEU][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10162515	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11848353	0.96[AFR][1000 genomes]
rs11848392	0.85[AFR][1000 genomes]
rs1430424	1.00[CEU][hapmap]
rs17098168	1.00[CEU][hapmap]
rs17098171	1.00[CEU][hapmap]
rs17098197	1.00[CEU][hapmap]
rs17098210	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17098211	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17098218	0.92[YRI][hapmap];0.82[AFR][1000 genomes]
rs1982013	1.00[CEU][hapmap]
rs1982014	1.00[CEU][hapmap]
rs2184304	0.81[EUR][1000 genomes]
rs2184305	0.81[EUR][1000 genomes]
rs2378934	1.00[CEU][hapmap]
rs3993	0.96[AFR][1000 genomes]
rs56173857	0.81[EUR][1000 genomes]
rs58503445	0.87[AFR][1000 genomes]
rs60633646	0.81[EUR][1000 genomes]
rs6571449	1.00[CEU][hapmap]
rs6571456	1.00[CEU][hapmap]
rs6571466	1.00[CEU][hapmap]
rs6571467	1.00[CEU][hapmap]
rs6571471	1.00[CEU][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6571473	0.96[AFR][1000 genomes]
rs7140277	1.00[CEU][hapmap]
rs7141477	1.00[CEU][hapmap]
rs7143532	1.00[CEU][hapmap]
rs7144178	1.00[CEU][hapmap]
rs7144910	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7145251	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7147907	0.96[AFR][1000 genomes]
rs7148175	0.93[AFR][1000 genomes]
rs7148196	0.91[AFR][1000 genomes]
rs7148222	0.96[AFR][1000 genomes]
rs7148561	0.96[AFR][1000 genomes]
rs7148746	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7149861	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7151198	1.00[CEU][hapmap]
rs7153389	0.96[AFR][1000 genomes]
rs7153738	0.96[AFR][1000 genomes]
rs7153885	1.00[CEU][hapmap]
rs7156907	1.00[CEU][hapmap]
rs7159193	1.00[CEU][hapmap]
rs7160459	0.81[EUR][1000 genomes]
rs7161628	1.00[CEU][hapmap]
rs73259069	0.95[AFR][1000 genomes]
rs73259070	0.96[AFR][1000 genomes]
rs8004536	0.96[AFR][1000 genomes]
rs8004616	1.00[CEU][hapmap]
rs8004792	0.96[AFR][1000 genomes]
rs8005084	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8005547	0.96[AFR][1000 genomes]
rs8005763	1.00[CEU][hapmap]
rs8006327	0.96[AFR][1000 genomes]
rs8008432	0.81[EUR][1000 genomes]
rs8009002	0.96[AFR][1000 genomes]
rs8009012	1.00[CEU][hapmap]
rs8009030	0.96[AFR][1000 genomes]
rs8009296	0.81[EUR][1000 genomes]
rs8009753	0.92[AFR][1000 genomes]
rs8016240	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8016527	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs8018137	1.00[CEU][hapmap]
rs8020792	0.94[AFR][1000 genomes]
rs8020874	1.00[CEU][hapmap]
rs8021182	1.00[CEU][hapmap]
rs970489	1.00[CEU][hapmap]
rs9743878	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv901593	chr14:32282564-32350371	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv526200	chr14:32308511-32454372	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr14:32250600-32322400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr14:32281800-32330200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr14:32294200-32328800	Weak transcription	Ovary	ovary
4	chr14:32294800-32328000	Weak transcription	Left Ventricle	heart
5	chr14:32295000-32332800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:32297400-32325800	Weak transcription	Primary B cells from cord blood	blood
7	chr14:32298200-32322000	Weak transcription	Primary T cells from cord blood	blood
8	chr14:32299000-32325800	Weak transcription	Fetal Stomach	stomach
9	chr14:32304200-32319600	Weak transcription	HepG2	liver
10	chr14:32304600-32312400	Weak transcription	HUVEC	blood vessel
11	chr14:32309200-32330000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:32311600-32313000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:32311600-32328000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:32311800-32313200	Enhancers	GM12878-XiMat	blood
15	chr14:32312200-32312400	Enhancers	Esophagus	oesophagus
16	chr14:32312200-32312400	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr14:32312200-32312600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:32312200-32312600	Enhancers	Colonic Mucosa	Colon
19	chr14:32312200-32312600	Enhancers	Fetal Brain Female	brain
20	chr14:32312200-32312600	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr14:32312200-32312800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:32312200-32313000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:32312200-32313000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:32312200-32313000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:32312200-32313000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:32312200-32313000	Enhancers	HSMM	muscle
27	chr14:32312200-32313200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:32312200-32313200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:32312200-32313200	Enhancers	Stomach Mucosa	stomach
30	chr14:32312200-32313200	Enhancers	HMEC	breast
31	chr14:32312200-32313200	Enhancers	HSMMtube	muscle
32	chr14:32312200-32313200	Enhancers	NHEK	skin
33	chr14:32312200-32313800	Enhancers	Rectal Mucosa Donor 31	rectum

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