Variant report

Variant	rs724913
Chromosome Location	chr5:80898264-80898265
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80897320..80900374-chr5:80908175..80911251,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1023747	1.00[CHB][hapmap]
rs11957810	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs1436498	0.95[AFR][1000 genomes]
rs1436499	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2043646	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs2917542	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.87[ASN][1000 genomes]
rs2917544	0.91[ASN][1000 genomes]
rs2973338	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2973344	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34359067	0.87[ASN][1000 genomes]
rs380946	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs382297	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs384433	1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs385716	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs386874	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs389847	0.81[CEU][hapmap]
rs390171	1.00[CHB][hapmap]
rs399104	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs402352	1.00[YRI][hapmap]
rs406292	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs413472	1.00[CHB][hapmap];0.87[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs419017	1.00[CHB][hapmap]
rs428986	0.81[EUR][1000 genomes]
rs432617	1.00[YRI][hapmap]
rs435901	1.00[CHB][hapmap]
rs453068	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs454487	1.00[CHB][hapmap]
rs585558	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs6898782	0.85[CHB][hapmap];0.97[ASN][1000 genomes]
rs7702428	0.89[EUR][1000 genomes]
rs863772	1.00[CHB][hapmap]

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	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv882234	chr5:80853708-80966666	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv525437	chr5:80876359-80964452	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80883200-80905800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:80883800-80909200	Weak transcription	HSMM	muscle
3	chr5:80885200-80905400	Weak transcription	Pancreas	Pancrea
4	chr5:80886800-80905400	Weak transcription	Brain Substantia Nigra	brain
5	chr5:80887000-80905600	Weak transcription	Brain Anterior Caudate	brain
6	chr5:80887000-80922400	Weak transcription	Psoas Muscle	Psoas
7	chr5:80887200-80905400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:80887200-80911200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr5:80887400-80904600	Weak transcription	Osteobl	bone
10	chr5:80888600-80905200	Weak transcription	Brain Germinal Matrix	brain
11	chr5:80888600-80905400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:80888800-80905600	Weak transcription	Fetal Stomach	stomach
13	chr5:80892000-80905600	Weak transcription	Gastric	stomach
14	chr5:80892800-80904600	Weak transcription	Fetal Brain Male	brain
15	chr5:80893000-80900400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:80893400-80898800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr5:80893400-80926000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:80893600-80905600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:80893600-80905600	Weak transcription	Aorta	Aorta
20	chr5:80893600-80909600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr5:80893800-80903000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:80894000-80901600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr5:80894200-80899200	Strong transcription	Fetal Thymus	thymus
24	chr5:80894400-80905200	Weak transcription	Fetal Intestine Large	intestine
25	chr5:80894400-80905400	Weak transcription	Fetal Brain Female	brain
26	chr5:80894400-80905800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr5:80894600-80898600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr5:80894600-80905600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr5:80894600-80905600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:80894600-80905600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:80894600-80905600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr5:80894600-80905600	Weak transcription	Left Ventricle	heart
33	chr5:80894800-80899400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:80894800-80900000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr5:80894800-80905400	Weak transcription	Fetal Kidney	kidney
36	chr5:80894800-80905600	Weak transcription	Adipose Nuclei	Adipose
37	chr5:80895000-80900200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr5:80895000-80905400	Weak transcription	Fetal Muscle Leg	muscle
39	chr5:80895000-80905600	Weak transcription	Brain Hippocampus Middle	brain
40	chr5:80895200-80905400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:80895200-80909600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr5:80895400-80898600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:80895400-80904800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr5:80895400-80905400	Weak transcription	Liver	Liver
45	chr5:80895400-80905400	Weak transcription	Ovary	ovary
46	chr5:80895600-80909200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr5:80895800-80898800	Weak transcription	GM12878-XiMat	blood
48	chr5:80895800-80899800	Strong transcription	Dnd41	blood
49	chr5:80895800-80904600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:80895800-80904800	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links