Variant report

Variant	rs3212256
Chromosome Location	chr14:24804724-24804725
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24802615-24805178	HUVEC	blood vessel:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24802266..24804821-chr14:24805922..24808045,3	K562	blood:
2	chr14:24796879..24804920-chr14:24831628..24840088,12	MCF-7	breast:
3	chr14:24796718..24800207-chr14:24803965..24807105,3	MCF-7	breast:
4	chr14:24789439..24822082-chr14:24898039..24913135,99	MCF-7	breast:
5	chr14:24709884..24713728-chr14:24799730..24804763,6	MCF-7	breast:
6	chr14:24791358..24808812-chr14:24895309..24913599,55	K562	blood:
7	chr14:24803661..24805578-chr14:24807953..24810050,2	K562	blood:
8	chr14:24781460..24810019-chr14:24892340..24914262,110	MCF-7	breast:

No data

Variant related genes	Relation type
ADCY4	TF binding region
ENSG00000139899	Chromatin interaction
ENSG00000258973	Chromatin interaction
ENSG00000129465	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000100968	Chromatin interaction
ENSG00000100441	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10139438	0.97[ASN][1000 genomes]
rs11844732	0.97[ASN][1000 genomes]
rs28531696	0.97[ASN][1000 genomes]
rs28769707	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3181246	0.97[ASN][1000 genomes]
rs3181252	0.97[ASN][1000 genomes]
rs3181257	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3212246	0.97[ASN][1000 genomes]
rs3212247	0.97[ASN][1000 genomes]
rs3212249	0.97[ASN][1000 genomes]
rs3212250	0.97[ASN][1000 genomes]
rs3212251	0.97[ASN][1000 genomes]
rs3212253	0.97[ASN][1000 genomes]
rs3759625	0.96[ASN][1000 genomes]
rs3759630	0.97[ASN][1000 genomes]
rs3759633	0.96[ASN][1000 genomes]
rs3759634	0.96[ASN][1000 genomes]
rs7146673	0.97[ASN][1000 genomes]
rs7146814	0.96[ASN][1000 genomes]
rs8009739	0.97[ASN][1000 genomes]
rs8010276	0.97[ASN][1000 genomes]
rs8010550	0.97[ASN][1000 genomes]
rs8014581	0.97[ASN][1000 genomes]
rs8014599	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv564060	chr14:24776401-24809795	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24801200-24804800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr14:24801800-24805400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr14:24802800-24804800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:24802800-24804800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
5	chr14:24802800-24805000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
6	chr14:24802800-24805200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
7	chr14:24803000-24804800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
8	chr14:24803000-24804800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr14:24803000-24804800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
10	chr14:24803000-24804800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
11	chr14:24803000-24805400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:24803400-24804800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:24803400-24805400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
14	chr14:24803600-24804800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr14:24803600-24804800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:24803600-24804800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:24803600-24804800	Enhancers	Liver	Liver
18	chr14:24803600-24805200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:24803600-24805400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr14:24803800-24804800	Bivalent/Poised TSS	Left Ventricle	heart
21	chr14:24804000-24804800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
22	chr14:24804000-24804800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
23	chr14:24804000-24805200	Enhancers	Primary B cells from cord blood	blood
24	chr14:24804200-24804800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
25	chr14:24804200-24804800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
26	chr14:24804200-24804800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
27	chr14:24804200-24804800	Flanking Active TSS	NHDF-Ad	bronchial
28	chr14:24804200-24805400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:24804200-24805400	Bivalent Enhancer	Fetal Thymus	thymus
30	chr14:24804200-24806200	Weak transcription	Esophagus	oesophagus
31	chr14:24804400-24804800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
32	chr14:24804400-24804800	Bivalent Enhancer	Primary T cells from cord blood	blood
33	chr14:24804400-24804800	Flanking Active TSS	HUVEC	blood vessel
34	chr14:24804400-24805000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:24804400-24805000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:24804400-24805000	Enhancers	Lung	lung
37	chr14:24804400-24805200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:24804400-24805200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr14:24804400-24805400	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr14:24804400-24805400	Flanking Active TSS	Osteobl	bone
41	chr14:24804400-24805600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr14:24804400-24805600	Enhancers	Spleen	Spleen
43	chr14:24804400-24806000	Enhancers	Primary hematopoietic stem cells	blood
44	chr14:24804400-24806200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr14:24804400-24807800	Weak transcription	Pancreas	Pancrea
46	chr14:24804600-24804800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
47	chr14:24804600-24804800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
48	chr14:24804600-24804800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr14:24804600-24804800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:24804600-24804800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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