Variant report

Variant	rs750488
Chromosome Location	chr14:67976532-67976533
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67976445..67980059-chr14:67998803..68001828,3	K562	blood:

Variant related genes	Relation type
ENSG00000054690	Chromatin interaction
ENSG00000198133	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4902475	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs55798875	0.89[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	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1320	chr14:67938724-67984157	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67935000-67977200	Weak transcription	Brain Angular Gyrus	brain
2	chr14:67956000-67978000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:67956200-67981000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:67959400-67979800	Weak transcription	Fetal Brain Male	brain
5	chr14:67961400-67979400	Weak transcription	Primary B cells from cord blood	blood
6	chr14:67961400-67979400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:67961600-67976800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:67961600-67979400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr14:67962800-67979200	Weak transcription	Pancreas	Pancrea
10	chr14:67964200-67980800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:67965000-67979400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr14:67965000-67980200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr14:67965200-67980200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr14:67965400-67980800	Weak transcription	Primary T cells from cord blood	blood
15	chr14:67968800-67980400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr14:67970200-67980200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr14:67970200-67980800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:67970400-67980200	Weak transcription	Placenta	Placenta
19	chr14:67971000-67980600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr14:67971200-67977000	Weak transcription	Brain Hippocampus Middle	brain
21	chr14:67973200-67977000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:67973400-67976800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:67974000-67977000	Weak transcription	HMEC	breast
24	chr14:67974400-67976600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr14:67974600-67977000	Weak transcription	NHEK	skin
26	chr14:67974800-67976800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:67974800-67977000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:67975400-67976800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:67975800-67978800	Weak transcription	Fetal Intestine Large	intestine
30	chr14:67975800-67979000	Weak transcription	Fetal Intestine Small	intestine
31	chr14:67975800-67979400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:67975800-67981000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr14:67976000-67979400	Weak transcription	GM12878-XiMat	blood
34	chr14:67976400-67979200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr14:67976400-67979200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr14:67976400-67980200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links