Variant report

Variant	rs2454029
Chromosome Location	chr8:104077522-104077523
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103874632..103878836-chr8:104074842..104078968,5	MCF-7	breast:
2	chr8:104076848..104078439-chr8:104081694..104084055,2	K562	blood:

Variant related genes	Relation type
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1398270	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1398271	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2132863	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2248718	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2453996	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2453997	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2454044	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2515201	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2515205	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2454029	ATP6V1C1	cis	Whole Blood	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104050400-104086000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr8:104050600-104089600	Weak transcription	Psoas Muscle	Psoas
3	chr8:104051600-104087400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:104052800-104082200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:104053200-104085600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:104053600-104083800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:104054000-104084400	Strong transcription	Fetal Thymus	thymus
8	chr8:104054200-104083400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:104054200-104083800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:104054200-104084400	Strong transcription	Primary B cells from peripheral blood	blood
11	chr8:104055200-104087000	Weak transcription	K562	blood
12	chr8:104057000-104084200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:104058800-104083400	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr8:104059000-104083600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr8:104059200-104083600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr8:104059400-104083400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:104059400-104083800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:104059400-104085200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:104059400-104085800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr8:104059600-104085400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:104059800-104083400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr8:104059800-104084000	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr8:104060000-104083400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:104060000-104083600	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:104060000-104083800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:104060200-104083000	Weak transcription	Gastric	stomach
27	chr8:104060800-104079200	Strong transcription	Placenta	Placenta
28	chr8:104061600-104084000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr8:104062600-104081000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:104063400-104083800	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr8:104065000-104085000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:104065400-104085200	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:104066800-104091200	Weak transcription	Stomach Mucosa	stomach
34	chr8:104067000-104080400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:104067200-104080800	Weak transcription	Fetal Brain Male	brain
36	chr8:104067800-104085800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr8:104068000-104083200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:104068200-104077600	Strong transcription	Primary B cells from cord blood	blood
39	chr8:104068400-104085000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:104068600-104078400	Weak transcription	Brain Substantia Nigra	brain
41	chr8:104068600-104085400	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr8:104068800-104084400	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr8:104068800-104084400	Weak transcription	Fetal Heart	heart
44	chr8:104069000-104080600	Weak transcription	HMEC	breast
45	chr8:104069000-104080800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:104069000-104082200	Weak transcription	Right Ventricle	heart
47	chr8:104069800-104085600	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr8:104069800-104085800	Weak transcription	Esophagus	oesophagus
49	chr8:104069800-104090800	Weak transcription	Aorta	Aorta
50	chr8:104070400-104080200	Weak transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links