Variant report

Variant	rs12432404
Chromosome Location	chr14:32312740-32312741
allele	A/C
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	MAX	chr14:32312698-32313004	K562	blood:	n/a	n/a
2	BATF	chr14:32312682-32312995	GM12878	blood:	n/a	chr14:32312694-32312704

Variant related genes	Relation type
NUBPL	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10129419	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10130764	0.81[ASN][1000 genomes]
rs10135411	0.99[ASN][1000 genomes]
rs10136892	0.88[ASN][1000 genomes]
rs10148852	0.95[ASN][1000 genomes]
rs10150448	0.90[ASN][1000 genomes]
rs10152018	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10152063	0.97[ASN][1000 genomes]
rs10348	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11156713	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11156714	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11156716	0.92[ASN][1000 genomes]
rs1129622	0.92[ASN][1000 genomes]
rs1129623	0.92[ASN][1000 genomes]
rs11627083	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1572190	0.90[ASN][1000 genomes]
rs1959071	0.92[ASN][1000 genomes]
rs1959072	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1959073	0.82[ASN][1000 genomes]
rs1959074	0.83[ASN][1000 genomes]
rs1959075	0.81[ASN][1000 genomes]
rs2378970	0.90[ASN][1000 genomes]
rs28639476	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2890046	0.83[ASN][1000 genomes]
rs35943743	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3825742	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4474604	0.83[ASN][1000 genomes]
rs4981129	0.94[ASN][1000 genomes]
rs4981130	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4981132	0.90[ASN][1000 genomes]
rs4981133	0.90[ASN][1000 genomes]
rs4981134	0.90[ASN][1000 genomes]
rs4981135	0.90[ASN][1000 genomes]
rs4981917	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4981921	0.80[ASN][1000 genomes]
rs4981922	0.80[ASN][1000 genomes]
rs56020946	0.88[ASN][1000 genomes]
rs56208157	0.90[ASN][1000 genomes]
rs6571470	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7140475	0.90[ASN][1000 genomes]
rs7141300	0.96[ASN][1000 genomes]
rs7148271	0.98[ASN][1000 genomes]
rs7158089	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7161280	0.96[ASN][1000 genomes]
rs7161640	0.96[ASN][1000 genomes]
rs8003582	0.90[ASN][1000 genomes]
rs8005663	0.94[ASN][1000 genomes]
rs8013469	0.88[ASN][1000 genomes]
rs8015328	0.99[ASN][1000 genomes]
rs8015523	0.99[ASN][1000 genomes]
rs8016004	0.81[ASN][1000 genomes]
rs8020037	0.96[ASN][1000 genomes]
rs8021918	0.94[ASN][1000 genomes]
rs8022995	0.96[ASN][1000 genomes]
rs8023131	0.95[ASN][1000 genomes]

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:35 , 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	chr14:32309200-32330000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:32311600-32313000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:32311600-32328000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr14:32311800-32313200	Enhancers	GM12878-XiMat	blood
14	chr14:32312200-32312800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:32312200-32313000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:32312200-32313000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:32312200-32313000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:32312200-32313000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:32312200-32313000	Enhancers	HSMM	muscle
20	chr14:32312200-32313200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:32312200-32313200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:32312200-32313200	Enhancers	Stomach Mucosa	stomach
23	chr14:32312200-32313200	Enhancers	HMEC	breast
24	chr14:32312200-32313200	Enhancers	HSMMtube	muscle
25	chr14:32312200-32313200	Enhancers	NHEK	skin
26	chr14:32312200-32313800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr14:32312400-32312800	Enhancers	Psoas Muscle	Psoas
28	chr14:32312400-32313000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:32312400-32313000	Enhancers	Fetal Intestine Large	intestine
30	chr14:32312400-32313000	Enhancers	Hela-S3	cervix
31	chr14:32312400-32313000	Enhancers	HUVEC	blood vessel
32	chr14:32312400-32313200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr14:32312600-32313200	Enhancers	A549	lung
34	chr14:32312600-32313400	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr14:32312600-32318000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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