Variant report

Variant	rs2454045
Chromosome Location	chr8:104068776-104068777
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104068104..104073340-chr8:104073499..104077893,7	MCF-7	breast:
2	chr8:104065394..104066935-chr8:104066977..104068842,2	MCF-7	breast:
3	chr8:104060413..104065276-chr8:104065920..104070550,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155097	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11775864	0.82[AFR][1000 genomes]
rs11777066	0.81[YRI][hapmap]
rs11779536	0.80[AFR][1000 genomes]
rs11985451	0.87[YRI][hapmap]
rs2253218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2458290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515197	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2515198	0.83[JPT][hapmap];0.97[YRI][hapmap]
rs2515199	0.84[AMR][1000 genomes]
rs2515200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3133431	0.84[AMR][1000 genomes]
rs7013362	0.93[YRI][hapmap];0.81[AFR][1000 genomes]
rs8079	0.83[AMR][1000 genomes]
rs868936	0.81[CHB][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2454045	ATP6V1C1	cis	multi-tissue	Pritchard

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104034200-104068800	Weak transcription	Small Intestine	intestine
2	chr8:104034400-104069400	Weak transcription	Esophagus	oesophagus
3	chr8:104034800-104074600	Weak transcription	NHEK	skin
4	chr8:104035400-104071200	Weak transcription	Brain Angular Gyrus	brain
5	chr8:104037200-104071400	Weak transcription	Fetal Brain Female	brain
6	chr8:104039000-104069400	Weak transcription	Spleen	Spleen
7	chr8:104040200-104071400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:104040600-104071400	Weak transcription	Pancreas	Pancrea
9	chr8:104050400-104069200	Weak transcription	Aorta	Aorta
10	chr8:104050400-104086000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr8:104050600-104089600	Weak transcription	Psoas Muscle	Psoas
12	chr8:104050800-104069800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:104051600-104087400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:104052800-104082200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:104053200-104073000	Weak transcription	Colonic Mucosa	Colon
16	chr8:104053200-104085600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:104053600-104083800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:104054000-104084400	Strong transcription	Fetal Thymus	thymus
19	chr8:104054200-104083400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:104054200-104083800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:104054200-104084400	Strong transcription	Primary B cells from peripheral blood	blood
22	chr8:104055200-104087000	Weak transcription	K562	blood
23	chr8:104055400-104069800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr8:104056200-104077000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:104056800-104069400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:104057000-104084200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:104058800-104071600	Strong transcription	HSMM	muscle
28	chr8:104058800-104073600	Strong transcription	Dnd41	blood
29	chr8:104058800-104083400	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr8:104059000-104072800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr8:104059000-104083600	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr8:104059200-104072000	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:104059200-104083600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr8:104059400-104070800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:104059400-104083400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr8:104059400-104083800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:104059400-104085200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:104059400-104085800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr8:104059600-104085400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:104059800-104083400	Strong transcription	Duodenum Mucosa	Duodenum
41	chr8:104059800-104084000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr8:104060000-104071400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:104060000-104071400	Weak transcription	Fetal Intestine Small	intestine
44	chr8:104060000-104083400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:104060000-104083600	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr8:104060000-104083800	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr8:104060200-104069000	Weak transcription	Fetal Stomach	stomach
48	chr8:104060200-104069200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:104060200-104070000	Weak transcription	Thymus	Thymus
50	chr8:104060200-104083000	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links