Variant report

Variant	rs8018709
Chromosome Location	chr14:68287883-68287884
allele	C/G
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:5)
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	chr14:68287747-68287915	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68281912..68284483-chr14:68287348..68290974,3	K562	blood:
2	chr14:68285810..68288248-chr14:68288285..68290736,2	MCF-7	breast:
3	chr14:68286637..68289233-chr14:68289938..68294161,6	MCF-7	breast:
4	chr14:68287568..68289831-chr14:69259841..69262482,2	K562	blood:
5	chr14:68287076..68289014-chr14:68289318..68291889,2	K562	blood:

No data

Variant related genes	Relation type
RAD51B	TF binding region
ZFYVE26	TF binding region
ENSG00000072121	Chromatin interaction
ENSG00000182185	Chromatin interaction
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs10130919	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10131048	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10132318	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10133239	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135927	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10137614	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137930	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141638	0.89[CEU][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10146380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150007	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1015023	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1040598	0.86[AMR][1000 genomes]
rs10483805	0.89[CEU][hapmap]
rs10873208	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158693	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11158694	0.86[AMR][1000 genomes]
rs11158695	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11158697	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158700	0.81[AMR][1000 genomes]
rs11158701	0.81[AMR][1000 genomes]
rs11620947	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11622521	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622535	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624166	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11626332	0.84[AMR][1000 genomes]
rs11626590	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11626594	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11626769	0.89[CEU][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11626778	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627100	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627417	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627565	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844492	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847628	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12433710	0.81[AMR][1000 genomes]
rs12586329	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12588401	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12886915	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12891047	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12891164	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12892221	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12893157	0.86[AMR][1000 genomes]
rs12896666	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1543391	0.90[AMR][1000 genomes]
rs17783094	0.89[CEU][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17783124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17783160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1810523	0.87[AMR][1000 genomes]
rs181561	0.82[CEU][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs181562	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs181563	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181564	0.81[CEU][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs181565	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs181566	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs181567	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs181570	0.81[CEU][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs181572	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs181574	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs181575	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs181576	0.82[CEU][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1950769	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1955470	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1956345	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1956346	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1956347	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1956348	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964828	0.85[AMR][1000 genomes]
rs2235962	0.88[CEU][hapmap];0.82[AMR][1000 genomes]
rs2235963	0.88[CEU][hapmap];0.85[AMR][1000 genomes]
rs2235965	0.89[CEU][hapmap];0.82[AMR][1000 genomes]
rs2235966	0.88[CEU][hapmap];0.83[AMR][1000 genomes]
rs2295106	0.85[AMR][1000 genomes]
rs2295107	0.85[AMR][1000 genomes]
rs2295108	0.89[CEU][hapmap]
rs2331403	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28373844	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28604984	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28623567	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2874131	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2874132	0.82[AMR][1000 genomes]
rs35272075	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4143685	0.86[AMR][1000 genomes]
rs4284565	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4402486	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4569184	0.88[CEU][hapmap]
rs4902517	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4902518	0.95[ASN][1000 genomes]
rs4902519	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs55999745	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142433	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7143496	0.87[AMR][1000 genomes]
rs7149482	0.89[CEU][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7151091	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7151495	0.86[AMR][1000 genomes]
rs7154635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157288	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7159109	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7159489	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7159622	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7160196	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72723196	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72725103	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72725114	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs764088	0.82[AMR][1000 genomes]
rs767972	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8003431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004611	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8006089	0.96[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8009358	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs8009455	0.85[ASN][1000 genomes]
rs8010086	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8011120	0.84[CEU][hapmap];0.87[AMR][1000 genomes]
rs8011393	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs8011690	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8012974	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8017007	0.85[ASN][1000 genomes]
rs8017013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs932554	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs932555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs961700	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs986382	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[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	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68286200-68288000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:68286200-68288200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:68286800-68288000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:68286800-68288000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:68286800-68288000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr14:68286800-68288400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr14:68287000-68288000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr14:68287000-68288000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr14:68287000-68288200	Flanking Active TSS	Dnd41	blood
10	chr14:68287200-68288000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:68287200-68292000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:68287200-68303600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:68287400-68288000	Enhancers	Primary B cells from peripheral blood	blood
14	chr14:68287400-68288000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:68287400-68288000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:68287400-68288200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:68287400-68288200	Enhancers	Colonic Mucosa	Colon
18	chr14:68287400-68288400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr14:68287400-68288400	Enhancers	Liver	Liver
20	chr14:68287400-68292000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr14:68287400-68292400	Weak transcription	Fetal Stomach	stomach
22	chr14:68287400-68292800	Weak transcription	Gastric	stomach
23	chr14:68287400-68293400	Weak transcription	Ovary	ovary
24	chr14:68287400-68296400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr14:68287400-68297200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr14:68287400-68304800	Weak transcription	Lung	lung
27	chr14:68287400-68312800	Weak transcription	Aorta	Aorta
28	chr14:68287400-68312800	Weak transcription	Esophagus	oesophagus
29	chr14:68287400-68315200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr14:68287600-68288000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr14:68287600-68288000	Enhancers	Primary T cells from cord blood	blood
32	chr14:68287600-68288000	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr14:68287600-68288000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:68287600-68288000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr14:68287600-68288000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:68287600-68288000	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr14:68287600-68288000	Flanking Active TSS	NHDF-Ad	bronchial
38	chr14:68287600-68288200	Enhancers	HMEC	breast
39	chr14:68287600-68288600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:68287600-68290800	Weak transcription	Fetal Thymus	thymus
41	chr14:68287600-68291800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:68287600-68292200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:68287600-68292800	Weak transcription	Placenta	Placenta
44	chr14:68287600-68293400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr14:68287600-68293400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr14:68287600-68294000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:68287600-68294400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr14:68287600-68295000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:68287600-68295400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:68287600-68296000	Weak transcription	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links