Variant report

Variant	rs72672674
Chromosome Location	chr14:31891426-31891427
allele	G/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	TEAD4	chr14:31888847-31891431	HepG2	liver:	n/a	n/a
2	ZNF384	chr14:31890917-31891459	K562	blood:	n/a	n/a
3	MYBL2	chr14:31888863-31891481	HepG2	liver:	n/a	n/a
4	ZEB1	chr14:31888807-31891503	HepG2	liver:	n/a	n/a
5	MYBL2	chr14:31888358-31891645	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:31887818..31891601-chr14:31923594..31927929,15	K562	blood:
2	chr14:31890242..31892614-chr14:31901862..31904809,2	MCF-7	breast:
3	chr14:31887046..31892106-chr14:31923824..31928892,9	K562	blood:

Variant related genes	Relation type
HEATR5A	TF binding region
ENSG00000203546	Chromatin interaction
ENSG00000129480	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10143032	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11624231	0.87[EUR][1000 genomes]
rs11628429	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12050093	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17097879	0.96[ASN][1000 genomes]
rs17097881	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17555812	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35878881	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55864289	0.93[AFR][1000 genomes]
rs56183134	0.93[AFR][1000 genomes]
rs58339873	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1042776	chr14:31844026-32003929	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer 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
5	nsv542019	chr14:31844026-32003929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' 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
6	nsv931935	chr14:31871658-32117666	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1050774	chr14:31879687-32102906	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv934110	chr14:31887749-32109529	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31890200-31895000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:31890200-31896000	Weak transcription	Lung	lung
3	chr14:31890200-31902200	Weak transcription	Aorta	Aorta
4	chr14:31890200-31904200	Weak transcription	Right Atrium	heart
5	chr14:31890400-31893000	Weak transcription	NH-A	brain
6	chr14:31890400-31895200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr14:31890400-31895600	Weak transcription	Adipose Nuclei	Adipose
8	chr14:31890400-31897600	Weak transcription	Fetal Intestine Small	intestine
9	chr14:31890400-31898200	Weak transcription	Brain Germinal Matrix	brain
10	chr14:31890400-31899600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr14:31890400-31899800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:31890400-31900800	Weak transcription	Primary B cells from cord blood	blood
13	chr14:31890400-31900800	Weak transcription	Fetal Brain Female	brain
14	chr14:31890400-31900800	Weak transcription	Fetal Lung	lung
15	chr14:31890400-31900800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr14:31890400-31901000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:31890400-31901000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:31890400-31907400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:31890400-31910400	Weak transcription	Placenta	Placenta
20	chr14:31890400-31910400	Weak transcription	Ovary	ovary
21	chr14:31890400-31917400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:31890400-31921200	Weak transcription	Psoas Muscle	Psoas
23	chr14:31890400-31925800	Weak transcription	Right Ventricle	heart
24	chr14:31890600-31892200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr14:31890600-31894800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:31890600-31900800	Weak transcription	Primary T cells from cord blood	blood
27	chr14:31890600-31900800	Weak transcription	Brain Substantia Nigra	brain
28	chr14:31890600-31901000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:31890600-31904400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr14:31890600-31910600	Weak transcription	Fetal Heart	heart
31	chr14:31890600-31919000	Weak transcription	Brain Anterior Caudate	brain
32	chr14:31890600-31919200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr14:31890600-31920600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr14:31890600-31922400	Weak transcription	Brain Angular Gyrus	brain
35	chr14:31890800-31892400	Enhancers	K562	blood
36	chr14:31890800-31895000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:31890800-31899600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:31890800-31901000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr14:31890800-31920800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:31890800-31925200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr14:31891000-31900400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr14:31891200-31900600	Weak transcription	Brain Hippocampus Middle	brain
43	chr14:31891400-31891600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:31891400-31891600	Enhancers	HepG2	liver

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