Variant report

Variant	rs72825727
Chromosome Location	chr2:99252750-99252751
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99251429..99253111-chr2:99254758..99257281,2	K562	blood:
2	chr2:99251307..99253078-chr2:99796665..99798788,2	K562	blood:
3	chr2:99243387..99245522-chr2:99251186..99252822,2	K562	blood:

Variant related genes	Relation type
ENSG00000241962	Chromatin interaction
ENSG00000185414	Chromatin interaction
ENSG00000158411	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	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12618769	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12623494	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13416843	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17513621	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17513782	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3769693	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3769694	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3769695	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769696	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769697	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55934348	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6741558	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825704	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825708	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72825710	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825711	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825719	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72825720	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72825725	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72825732	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72825733	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7560357	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:75 , 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	chr2:99246200-99253800	Strong transcription	Fetal Intestine Small	intestine
18	chr2:99246200-99254000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:99247200-99254600	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:99247200-99256400	Strong transcription	Lung	lung
21	chr2:99247200-99265600	Strong transcription	HepG2	liver
22	chr2:99247600-99254400	Strong transcription	Left Ventricle	heart
23	chr2:99248600-99254000	Genic enhancers	Primary T cells fromperipheralblood	blood
24	chr2:99248600-99255800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:99248800-99254600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:99248800-99254600	Strong transcription	Liver	Liver
27	chr2:99249400-99254000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr2:99249800-99254000	Genic enhancers	Fetal Thymus	thymus
29	chr2:99249800-99261600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:99249800-99265600	Weak transcription	Brain Substantia Nigra	brain
31	chr2:99249800-99318000	Weak transcription	Psoas Muscle	Psoas
32	chr2:99250000-99256200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr2:99250600-99253200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:99250600-99253400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:99250600-99254000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr2:99250800-99254000	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:99251200-99260000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:99251200-99263600	Weak transcription	Placenta	Placenta
39	chr2:99251400-99253600	Strong transcription	Dnd41	blood
40	chr2:99251400-99269000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:99251400-99277800	Weak transcription	Spleen	Spleen
42	chr2:99251400-99295600	Weak transcription	Fetal Stomach	stomach
43	chr2:99251600-99252800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:99251600-99252800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:99251600-99252800	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:99251600-99252800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr2:99251600-99253000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr2:99251600-99253400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr2:99251600-99253400	Genic enhancers	Primary T cells from cord blood	blood
50	chr2:99251600-99253600	Weak transcription	Colonic Mucosa	Colon

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