Variant report

Variant	rs448759
Chromosome Location	chr1:75222334-75222335
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:75220395..75222946-chr1:75225732..75227331,2	K562	blood:

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

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

rs_ID	r²[population]
rs277372	1.00[AFR][1000 genomes]
rs277373	1.00[AFR][1000 genomes]
rs277382	1.00[AFR][1000 genomes]
rs277383	0.90[AFR][1000 genomes]
rs277399	0.90[AFR][1000 genomes]
rs277401	1.00[AFR][1000 genomes]
rs277403	1.00[AFR][1000 genomes]
rs366834	1.00[AFR][1000 genomes]
rs494565	1.00[AFR][1000 genomes]
rs520882	1.00[AFR][1000 genomes]
rs569720	1.00[AFR][1000 genomes]
rs699803	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	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv830259	chr1:75089177-75241062	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1851105	chr1:75152186-75302921	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75200000-75231600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr1:75201400-75231800	Strong transcription	Dnd41	blood
3	chr1:75202400-75224000	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr1:75202400-75226400	Strong transcription	Fetal Intestine Large	intestine
5	chr1:75202400-75231200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:75202400-75231200	Strong transcription	Adipose Nuclei	Adipose
7	chr1:75202400-75231200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr1:75202400-75231400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:75202800-75222800	Strong transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:75202800-75225600	Strong transcription	Fetal Muscle Trunk	muscle
11	chr1:75204000-75231400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:75204000-75231400	Weak transcription	Psoas Muscle	Psoas
13	chr1:75205200-75232400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:75206200-75232400	Weak transcription	Small Intestine	intestine
15	chr1:75206200-75232800	Weak transcription	NHLF	lung
16	chr1:75206800-75230600	Weak transcription	Pancreas	Pancrea
17	chr1:75206800-75233600	Weak transcription	Gastric	stomach
18	chr1:75207600-75233400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:75209400-75228600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:75210600-75229000	Weak transcription	Brain Angular Gyrus	brain
21	chr1:75211000-75222400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:75211000-75222600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:75211000-75232000	Weak transcription	Colonic Mucosa	Colon
24	chr1:75211200-75222400	Weak transcription	Esophagus	oesophagus
25	chr1:75211600-75222400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr1:75211600-75222400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:75213400-75227600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr1:75214200-75222800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:75214400-75225400	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr1:75214400-75225800	Strong transcription	Ovary	ovary
31	chr1:75214400-75228200	Strong transcription	Primary T cells from cord blood	blood
32	chr1:75214400-75232200	Strong transcription	Liver	Liver
33	chr1:75214600-75222800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:75214600-75222800	Strong transcription	Placenta	Placenta
35	chr1:75214600-75225000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr1:75214600-75225600	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr1:75214600-75226400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr1:75214600-75227000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr1:75214800-75227800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:75214800-75228200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:75214800-75228600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr1:75215000-75224200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:75215200-75225000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:75215200-75231800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:75216000-75235200	Weak transcription	Right Ventricle	heart
46	chr1:75216400-75225600	Strong transcription	Primary B cells from cord blood	blood
47	chr1:75216800-75222600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:75216800-75223800	Strong transcription	HepG2	liver
49	chr1:75216800-75226000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:75217400-75225600	Strong transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links