Variant report

Variant	rs72912579
Chromosome Location	chr2:55263809-55263810
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55255745..55260236-chr2:55263069..55266549,5	K562	blood:
2	chr2:55261847..55264222-chr2:55276252..55278273,3	MCF-7	breast:
3	chr2:55257553..55263983-chr2:55266645..55270936,7	K562	blood:
4	chr2:55256384..55258349-chr2:55263077..55265384,2	K562	blood:
5	chr2:55261058..55265438-chr2:55268460..55270489,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10084445	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10170102	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10175952	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10179491	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10180207	0.92[EUR][1000 genomes]
rs10181115	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10182203	0.94[EUR][1000 genomes]
rs10191684	0.86[AMR][1000 genomes]
rs10191748	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs10191774	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10197533	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10198096	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10206953	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10207701	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11125554	0.98[EUR][1000 genomes]
rs13385999	0.86[AMR][1000 genomes]
rs13387710	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13394823	0.86[AMR][1000 genomes]
rs13394824	0.86[AMR][1000 genomes]
rs13400353	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13401780	0.86[EUR][1000 genomes]
rs13416852	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17046567	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17046569	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4358163	0.85[EUR][1000 genomes]
rs60989108	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6545469	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6545470	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6715980	0.85[EUR][1000 genomes]
rs6725187	0.86[AMR][1000 genomes]
rs6744637	0.86[EUR][1000 genomes]
rs6760773	0.84[EUR][1000 genomes]
rs7570298	0.83[EUR][1000 genomes]
rs7584992	0.86[AMR][1000 genomes]
rs7592869	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874155	chr2:55205262-55307646	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55237600-55272600	Weak transcription	Fetal Stomach	stomach
2	chr2:55241000-55272400	Weak transcription	Fetal Kidney	kidney
3	chr2:55245600-55265600	Weak transcription	Stomach Mucosa	stomach
4	chr2:55250400-55271000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:55250400-55274000	Weak transcription	Pancreas	Pancrea
6	chr2:55253400-55273000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:55254200-55269800	Weak transcription	Aorta	Aorta
8	chr2:55254200-55270400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:55254800-55265000	Enhancers	Brain Substantia Nigra	brain
10	chr2:55255400-55272600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:55255400-55272600	Weak transcription	Fetal Intestine Small	intestine
12	chr2:55256400-55266600	Weak transcription	Left Ventricle	heart
13	chr2:55256400-55270400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:55256600-55264000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:55256600-55265200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:55256800-55264200	Weak transcription	HSMMtube	muscle
17	chr2:55259000-55264400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:55259000-55264600	Weak transcription	HMEC	breast
19	chr2:55259000-55264600	Weak transcription	NHLF	lung
20	chr2:55259000-55265600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:55259000-55267400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:55259000-55272800	Weak transcription	Small Intestine	intestine
23	chr2:55259200-55264400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:55259200-55272800	Weak transcription	Fetal Heart	heart
25	chr2:55259400-55264400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:55259400-55275200	Weak transcription	Esophagus	oesophagus
27	chr2:55260000-55264000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr2:55260000-55264600	Weak transcription	Fetal Brain Male	brain
29	chr2:55260000-55265000	Strong transcription	HSMM	muscle
30	chr2:55260000-55265600	Weak transcription	NHEK	skin
31	chr2:55260600-55264400	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:55260800-55264200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:55260800-55264400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:55260800-55264400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:55260800-55264600	Weak transcription	Gastric	stomach
36	chr2:55260800-55266000	Weak transcription	Adipose Nuclei	Adipose
37	chr2:55260800-55266200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:55260800-55266600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:55260800-55270400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:55260800-55271200	Weak transcription	Lung	lung
41	chr2:55260800-55271200	Weak transcription	Right Atrium	heart
42	chr2:55260800-55272000	Weak transcription	NH-A	brain
43	chr2:55260800-55272400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:55260800-55273200	Weak transcription	Psoas Muscle	Psoas
45	chr2:55261200-55273000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr2:55261400-55264000	Weak transcription	Primary T cells from cord blood	blood
47	chr2:55261400-55272800	Weak transcription	Thymus	Thymus
48	chr2:55261600-55264000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr2:55261600-55264400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:55261600-55264600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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