Variant report

Variant	rs10050374
Chromosome Location	chr5:127287448-127287449
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127286727..127288267-chr5:127302316..127305106,2	MCF-7	breast:
2	chr5:127277558..127280504-chr5:127284897..127288204,4	MCF-7	breast:
3	chr5:127269737..127272563-chr5:127286777..127288536,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230561	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10057561	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064559	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10068883	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10213776	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10900794	0.92[EUR][1000 genomes]
rs11738398	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11741283	0.91[EUR][1000 genomes]
rs12517005	0.92[EUR][1000 genomes]
rs13160751	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17164458	0.80[AFR][1000 genomes]
rs2011576	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2409037	0.92[EUR][1000 genomes]
rs4836344	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4836346	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4836348	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55896045	0.91[EUR][1000 genomes]
rs6595796	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6871743	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6877403	0.92[EUR][1000 genomes]
rs6889756	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6898956	0.87[EUR][1000 genomes]
rs758181	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7706518	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7717741	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7726011	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327463	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127267400-127292200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:127269800-127292400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:127271200-127294800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:127274800-127295000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:127274800-127296000	Weak transcription	Primary B cells from cord blood	blood
6	chr5:127278400-127292800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:127278400-127292800	Weak transcription	Brain Substantia Nigra	brain
8	chr5:127278400-127292800	Weak transcription	HSMM	muscle
9	chr5:127278400-127294600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr5:127278400-127295600	Weak transcription	HSMMtube	muscle
11	chr5:127280200-127292800	Weak transcription	Gastric	stomach
12	chr5:127281800-127295400	Weak transcription	Psoas Muscle	Psoas
13	chr5:127285200-127295200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr5:127285800-127303800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:127286400-127287600	Enhancers	Colon Smooth Muscle	Colon
16	chr5:127286600-127295200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:127286800-127292600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:127287000-127288200	Strong transcription	Primary T cells from cord blood	blood
19	chr5:127287000-127292200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr5:127287000-127292600	Weak transcription	Fetal Intestine Small	intestine
21	chr5:127287200-127288000	Enhancers	A549	lung
22	chr5:127287400-127288200	Enhancers	GM12878-XiMat	blood
23	chr5:127287400-127293000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:127287400-127297200	Weak transcription	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links