Variant report

Variant	rs8005346
Chromosome Location	chr14:35281489-35281490
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35276280..35277782-chr14:35280404..35281934,2	K562	blood:
2	chr14:35277341..35283616-chr14:35341500..35345022,6	MCF-7	breast:
3	chr14:35281206..35283597-chr14:35284492..35287155,2	MCF-7	breast:
4	chr14:35280951..35282784-chr14:35342716..35345584,2	K562	blood:

Variant related genes	Relation type
ENSG00000258738	Chromatin interaction
ENSG00000198604	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1044140	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17527243	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17592803	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2383673	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41301471	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41309244	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs45620534	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61981239	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7145452	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7149819	0.86[EUR][1000 genomes]
rs7150746	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8003689	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8005487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1052162	chr14:35245349-35451187	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35231200-35291800	Weak transcription	Fetal Brain Male	brain
2	chr14:35232600-35293200	Weak transcription	Fetal Kidney	kidney
3	chr14:35234200-35311600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:35251600-35284000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:35252200-35301000	Weak transcription	Psoas Muscle	Psoas
6	chr14:35257400-35282000	Strong transcription	Fetal Thymus	thymus
7	chr14:35260400-35283400	Strong transcription	Dnd41	blood
8	chr14:35262600-35283200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr14:35262600-35283800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr14:35265000-35296000	Weak transcription	Colon Smooth Muscle	Colon
11	chr14:35267800-35292200	Weak transcription	Right Ventricle	heart
12	chr14:35269000-35282600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:35269200-35298000	Weak transcription	Ovary	ovary
14	chr14:35269400-35322200	Weak transcription	Fetal Brain Female	brain
15	chr14:35269400-35341600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:35269800-35290000	Weak transcription	Placenta	Placenta
17	chr14:35270200-35286800	Weak transcription	Fetal Heart	heart
18	chr14:35270400-35303400	Weak transcription	Stomach Mucosa	stomach
19	chr14:35271800-35291400	Weak transcription	Spleen	Spleen
20	chr14:35271800-35326400	Weak transcription	Esophagus	oesophagus
21	chr14:35272000-35290000	Weak transcription	Small Intestine	intestine
22	chr14:35272000-35296200	Weak transcription	Brain Germinal Matrix	brain
23	chr14:35272200-35291200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr14:35272400-35290800	Weak transcription	Fetal Stomach	stomach
25	chr14:35272400-35300200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr14:35272400-35333600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:35273800-35282600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr14:35274200-35311800	Weak transcription	HSMMtube	muscle
29	chr14:35274400-35282200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:35274400-35282200	Weak transcription	Lung	lung
31	chr14:35274400-35296400	Weak transcription	Aorta	Aorta
32	chr14:35274400-35303400	Weak transcription	Left Ventricle	heart
33	chr14:35274400-35312400	Weak transcription	Gastric	stomach
34	chr14:35274600-35282200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr14:35274600-35293000	Weak transcription	Fetal Lung	lung
36	chr14:35274800-35290800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr14:35274800-35312400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr14:35275000-35288800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr14:35275200-35298000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:35276200-35307200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr14:35276200-35342400	Weak transcription	Pancreas	Pancrea
42	chr14:35276400-35291200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:35276400-35291600	Weak transcription	Thymus	Thymus
44	chr14:35276400-35297800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr14:35276400-35329600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:35276400-35330000	Weak transcription	Colonic Mucosa	Colon
47	chr14:35276600-35291200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr14:35276600-35320000	Weak transcription	Fetal Muscle Leg	muscle
49	chr14:35276800-35281600	Weak transcription	Primary T cells from cord blood	blood
50	chr14:35276800-35281600	Weak transcription	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links