Variant report

Variant	rs1014930
Chromosome Location	chr1:172443520-172443521
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:172441688..172443816-chr1:172500587..172502900,2	K562	blood:
2	chr1:172440495..172444630-chr1:172497465..172500697,4	MCF-7	breast:
3	chr1:172417311..172418961-chr1:172442502..172444312,2	MCF-7	breast:
4	chr1:172435653..172437888-chr1:172440470..172444240,3	MCF-7	breast:
5	chr1:172443498..172448130-chr1:172464565..172470217,6	MCF-7	breast:
6	chr1:172424806..172427327-chr1:172442354..172444546,2	K562	blood:
7	chr1:172442195..172443795-chr1:172449989..172451528,2	MCF-7	breast:
8	chr1:172442117..172444152-chr1:172447245..172449151,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000094975	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1014928	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1014929	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16844498	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16844500	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16844502	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16844519	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16844585	0.84[EUR][1000 genomes]
rs41310899	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172436800-172444200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:172437000-172444400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:172437800-172445400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:172438200-172449200	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:172439000-172444400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:172440000-172445400	Weak transcription	Fetal Intestine Small	intestine
7	chr1:172440200-172445200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:172440800-172444200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:172442000-172444400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:172442400-172443800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:172442800-172443600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr1:172442800-172445200	Enhancers	NHEK	skin
13	chr1:172443000-172444200	Weak transcription	HMEC	breast
14	chr1:172443000-172445000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr1:172443000-172445400	Weak transcription	Gastric	stomach
16	chr1:172443000-172445400	Weak transcription	Pancreas	Pancrea
17	chr1:172443000-172448400	Weak transcription	K562	blood
18	chr1:172443200-172444200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr1:172443200-172445400	Weak transcription	Placenta	Placenta
20	chr1:172443400-172444800	Weak transcription	HepG2	liver
21	chr1:172443400-172445400	Weak transcription	Stomach Mucosa	stomach
22	chr1:172443400-172446600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:172443400-172446800	Enhancers	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links