Variant report

Variant	rs762050
Chromosome Location	chr14:70101496-70101497
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70101474..70104244-chr14:70105126..70107458,2	K562	blood:
2	chr14:70096444..70098437-chr14:70100734..70102530,2	K562	blood:
3	chr14:70096444..70099112-chr14:70101030..70103502,2	K562	blood:
4	chr14:70099677..70101802-chr14:70162155..70164214,2	K562	blood:
5	chr14:70076463..70079289-chr14:70101181..70103707,2	K562	blood:
6	chr14:70101474..70104313-chr14:70104673..70108475,3	K562	blood:

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11158811	1.00[AFR][1000 genomes]
rs1275741	0.94[AFR][1000 genomes]
rs1275743	0.94[AFR][1000 genomes]
rs1275818	0.88[AFR][1000 genomes]
rs1275819	0.88[AFR][1000 genomes]
rs1275820	0.88[AFR][1000 genomes]
rs1275821	0.88[AFR][1000 genomes]
rs1275822	0.81[AFR][1000 genomes]
rs1957366	0.88[AFR][1000 genomes]
rs2181051	0.94[AFR][1000 genomes]
rs2208653	1.00[AFR][1000 genomes]
rs4902740	0.81[AFR][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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70080400-70102800	Weak transcription	Fetal Brain Female	brain
2	chr14:70092400-70101600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:70092800-70101800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:70092800-70102400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr14:70093000-70102800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr14:70093000-70103000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr14:70093200-70102200	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr14:70093800-70107400	Enhancers	Primary B cells from peripheral blood	blood
9	chr14:70094800-70105600	Enhancers	Right Ventricle	heart
10	chr14:70094800-70106600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:70095000-70102400	Enhancers	Primary T cells from cord blood	blood
12	chr14:70095000-70102400	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr14:70095000-70102800	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr14:70095000-70104200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr14:70095000-70106400	Enhancers	Brain Hippocampus Middle	brain
16	chr14:70095000-70106800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr14:70095200-70103000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr14:70095400-70106600	Enhancers	Psoas Muscle	Psoas
19	chr14:70095400-70107000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr14:70095600-70105800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:70095600-70105800	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr14:70095600-70106800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr14:70095800-70102400	Enhancers	Colon Smooth Muscle	Colon
24	chr14:70095800-70106200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:70095800-70106400	Enhancers	Adipose Nuclei	Adipose
26	chr14:70096000-70101600	Enhancers	Small Intestine	intestine
27	chr14:70096600-70101800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:70096600-70102600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:70096600-70103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr14:70097000-70102600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr14:70097200-70102400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr14:70097400-70104000	Weak transcription	Fetal Brain Male	brain
33	chr14:70097400-70105800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:70097600-70105600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:70097600-70106400	Enhancers	HMEC	breast
36	chr14:70097800-70101600	Enhancers	Gastric	stomach
37	chr14:70097800-70105800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:70098000-70104200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr14:70098000-70104200	Enhancers	HepG2	liver
40	chr14:70098200-70105800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr14:70098400-70105600	Enhancers	HSMMtube	muscle
42	chr14:70098400-70106600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr14:70098600-70101600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr14:70098600-70102800	Enhancers	Rectal Smooth Muscle	rectum
45	chr14:70098600-70105600	Enhancers	Fetal Lung	lung
46	chr14:70098800-70101600	Enhancers	Ovary	ovary
47	chr14:70099000-70104000	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr14:70099000-70104200	Weak transcription	HSMM	muscle
49	chr14:70099200-70101600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:70099200-70102800	Weak transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links