Variant report

Variant	rs72825725
Chromosome Location	chr2:99251259-99251260
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99227326..99229717-chr2:99249569..99251711,2	K562	blood:
2	chr2:99250989..99251809-chr2:99453125..99453766,2	MCF-7	breast:
3	chr2:99225053..99227718-chr2:99249245..99252207,2	MCF-7	breast:
4	chr2:99243387..99245522-chr2:99251186..99252822,2	K562	blood:

Variant related genes	Relation type
ENSG00000115446	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11887056	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12618769	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12623494	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13416843	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17513621	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17513782	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769693	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769694	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769695	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3769696	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3769697	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55934348	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741558	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72825704	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72825708	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825710	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72825711	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72825718	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72825719	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825720	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825727	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72825732	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825733	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7560357	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99227200-99257400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:99231200-99286200	Weak transcription	Stomach Mucosa	stomach
3	chr2:99234000-99252800	Weak transcription	Brain Germinal Matrix	brain
4	chr2:99234600-99310600	Weak transcription	Small Intestine	intestine
5	chr2:99234800-99264600	Weak transcription	Ovary	ovary
6	chr2:99234800-99296400	Weak transcription	Esophagus	oesophagus
7	chr2:99235400-99273600	Weak transcription	Fetal Kidney	kidney
8	chr2:99238600-99256000	Weak transcription	Primary B cells from cord blood	blood
9	chr2:99243600-99265800	Strong transcription	Duodenum Mucosa	Duodenum
10	chr2:99244200-99257000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:99244200-99265600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr2:99244800-99257000	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr2:99244800-99265400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:99245000-99256800	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr2:99245000-99268000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:99245200-99252800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr2:99246200-99252600	Strong transcription	Pancreas	Pancrea
18	chr2:99246200-99253800	Strong transcription	Fetal Intestine Small	intestine
19	chr2:99246200-99254000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:99246600-99251600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:99246600-99251600	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:99246600-99251800	Strong transcription	Adipose Nuclei	Adipose
23	chr2:99246600-99251800	Strong transcription	Brain Anterior Caudate	brain
24	chr2:99246600-99252400	Strong transcription	Stomach Smooth Muscle	stomach
25	chr2:99246800-99251600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:99247200-99251600	Strong transcription	Primary B cells from peripheral blood	blood
27	chr2:99247200-99251800	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr2:99247200-99254600	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:99247200-99256400	Strong transcription	Lung	lung
30	chr2:99247200-99265600	Strong transcription	HepG2	liver
31	chr2:99247400-99251600	Strong transcription	Colonic Mucosa	Colon
32	chr2:99247400-99251600	Strong transcription	Fetal Intestine Large	intestine
33	chr2:99247400-99251600	Strong transcription	Gastric	stomach
34	chr2:99247400-99251600	Strong transcription	Right Ventricle	heart
35	chr2:99247600-99251400	Strong transcription	Fetal Stomach	stomach
36	chr2:99247600-99251600	Strong transcription	Brain Angular Gyrus	brain
37	chr2:99247600-99251600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:99247600-99251600	Strong transcription	Rectal Smooth Muscle	rectum
39	chr2:99247600-99254400	Strong transcription	Left Ventricle	heart
40	chr2:99248000-99251400	Strong transcription	Spleen	Spleen
41	chr2:99248400-99251600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:99248600-99254000	Genic enhancers	Primary T cells fromperipheralblood	blood
43	chr2:99248600-99255800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:99248800-99251600	Strong transcription	Brain Cingulate Gyrus	brain
45	chr2:99248800-99251600	Strong transcription	Colon Smooth Muscle	Colon
46	chr2:99248800-99254600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:99248800-99254600	Strong transcription	Liver	Liver
48	chr2:99249000-99251600	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:99249000-99251800	Strong transcription	HUVEC	blood vessel
50	chr2:99249400-99251800	Strong transcription	Aorta	Aorta

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