Variant report

Variant	rs72669400
Chromosome Location	chr14:39420772-39420773
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	FOS	chr14:39420583-39421063	HUVEC	blood vessel:	n/a	chr14:39420799-39420808 chr14:39420799-39420809 chr14:39420800-39420809 chr14:39420798-39420809 chr14:39420800-39420808 chr14:39420801-39420808
2	TCF12	chr14:39420430-39421079	SK-N-SH	brain:	n/a	n/a
3	JUND	chr14:39420521-39421019	SK-N-SH	brain:	n/a	chr14:39420799-39420808 chr14:39420799-39420809 chr14:39420800-39420809 chr14:39420800-39420808 chr14:39420801-39420808 chr14:39420798-39420809
4	GATA3	chr14:39420465-39421070	SK-N-SH	brain:	n/a	n/a
5	JUND	chr14:39420630-39420960	HepG2	liver:	n/a	chr14:39420799-39420808 chr14:39420799-39420809 chr14:39420800-39420809 chr14:39420800-39420808 chr14:39420801-39420808 chr14:39420798-39420809
6	PBX3	chr14:39420466-39420975	SK-N-SH	brain:	n/a	n/a
7	EP300	chr14:39420438-39421133	SK-N-SH	brain:	n/a	chr14:39420800-39420809 chr14:39420799-39420808 chr14:39420717-39420731
8	JUN	chr14:39420699-39420881	HepG2	liver:	n/a	chr14:39420799-39420808 chr14:39420799-39420809 chr14:39420800-39420809 chr14:39420800-39420808 chr14:39420801-39420808
9	TCF12	chr14:39420438-39421088	SK-N-SH	brain:	n/a	n/a
10	GATA3	chr14:39420483-39421142	SK-N-SH	brain:	n/a	n/a
11	JUND	chr14:39420540-39421027	SK-N-SH	brain:	n/a	chr14:39420799-39420808 chr14:39420799-39420809 chr14:39420800-39420809 chr14:39420800-39420808 chr14:39420801-39420808 chr14:39420798-39420809
12	FOS	chr14:39420657-39421000	MCF10A-Er-Src	breast:	n/a	chr14:39420799-39420808 chr14:39420799-39420809 chr14:39420800-39420809 chr14:39420798-39420809 chr14:39420800-39420808 chr14:39420801-39420808
13	FOS	chr14:39420656-39420995	MCF10A-Er-Src	breast:	n/a	chr14:39420799-39420808 chr14:39420799-39420809 chr14:39420800-39420809 chr14:39420798-39420809 chr14:39420800-39420808 chr14:39420801-39420808
14	JUND	chr14:39420509-39421009	SK-N-SH	brain:	n/a	chr14:39420799-39420808 chr14:39420799-39420809 chr14:39420800-39420809 chr14:39420800-39420808 chr14:39420801-39420808 chr14:39420798-39420809
15	NFIC	chr14:39420512-39420987	SK-N-SH	brain:	n/a	n/a
16	FOS	chr14:39420690-39420939	MCF10A-Er-Src	breast:	n/a	chr14:39420799-39420808 chr14:39420799-39420809 chr14:39420800-39420809 chr14:39420798-39420809 chr14:39420800-39420808 chr14:39420801-39420808

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39412833..39415383-chr14:39419578..39422326,3	MCF-7	breast:

Variant related genes	Relation type
LINC00639	TF binding region

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

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs17092037	0.87[AFR][1000 genomes]
rs45469795	0.87[EUR][1000 genomes]
rs45540035	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55790340	0.87[EUR][1000 genomes]
rs55997577	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56063785	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56074634	0.87[EUR][1000 genomes]
rs56087094	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56103446	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56125789	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56136756	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56225465	0.80[EUR][1000 genomes]
rs56237815	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56328886	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56333870	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56334607	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56335002	0.87[EUR][1000 genomes]
rs56341545	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59418195	0.83[EUR][1000 genomes]
rs67808375	0.87[EUR][1000 genomes]
rs72669383	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669388	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669397	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669399	0.91[EUR][1000 genomes]
rs72671304	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671307	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671309	0.98[EUR][1000 genomes]
rs72671311	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671316	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671321	0.96[AFR][1000 genomes]
rs72671322	0.91[AFR][1000 genomes]
rs72671323	0.91[AFR][1000 genomes]
rs72671332	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671333	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671344	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671349	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671353	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671360	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671362	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671367	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671372	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671379	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671382	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671387	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671398	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671400	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673307	1.00[ASN][1000 genomes]
rs72673314	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673315	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673316	0.87[EUR][1000 genomes]
rs72673317	0.87[EUR][1000 genomes]
rs72673318	0.85[EUR][1000 genomes]
rs72673328	0.83[EUR][1000 genomes]
rs72673329	0.83[EUR][1000 genomes]
rs72673339	0.83[EUR][1000 genomes]
rs8009457	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564416	chr14:39140536-39440106	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv470631	chr14:39153764-39440106	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv901656	chr14:39370726-39423339	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv901657	chr14:39410706-39460072	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39414200-39433600	Weak transcription	Brain Angular Gyrus	brain
2	chr14:39417800-39421000	Weak transcription	Osteobl	bone
3	chr14:39418000-39420800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:39418000-39428000	Weak transcription	Brain Hippocampus Middle	brain
5	chr14:39418400-39421000	Weak transcription	Brain Substantia Nigra	brain
6	chr14:39419800-39422400	Enhancers	HUVEC	blood vessel
7	chr14:39420000-39421800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:39420200-39420800	Weak transcription	HMEC	breast
9	chr14:39420200-39420800	Weak transcription	NHDF-Ad	bronchial
10	chr14:39420200-39421000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:39420200-39421200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:39420400-39421400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr14:39420400-39421600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:39420600-39421200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:39420600-39421200	Enhancers	NH-A	brain
16	chr14:39420600-39421400	Enhancers	NHEK	skin
17	chr14:39420600-39421600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:39420600-39422000	Enhancers	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links