Variant report

Variant	rs2631033
Chromosome Location	chr8:91924201-91924202
allele	G/T
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:91656035..91660624-chr8:91923601..91926897,6	MCF-7	breast:
2	chr8:91655180..91661938-chr8:91924192..91929884,17	MCF-7	breast:
3	chr8:91649829..91653898-chr8:91923286..91927799,5	MCF-7	breast:
4	chr8:91923652..91925326-chr8:92081669..92083962,2	MCF-7	breast:
5	chr8:91763941..91769111-chr8:91924081..91929908,10	MCF-7	breast:
6	chr8:91888393..91905767-chr8:91919159..91931807,48	MCF-7	breast:
7	chr8:91804614..91806911-chr8:91923508..91925621,2	MCF-7	breast:
8	chr8:91924135..91926221-chr8:91953944..91955666,2	MCF-7	breast:
9	chr8:91705691..91710257-chr8:91923411..91927074,5	MCF-7	breast:
10	chr8:91866002..91867663-chr8:91923726..91925814,2	MCF-7	breast:
11	chr8:91681989..91684010-chr8:91924151..91925843,2	MCF-7	breast:
12	chr8:91781643..91786719-chr8:91923582..91929024,8	MCF-7	breast:
13	chr8:91867431..91874888-chr8:91920306..91928900,17	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254251	Chromatin interaction
ENSG00000180694	Chromatin interaction
ENSG00000253738	Chromatin interaction
ENSG00000246792	Chromatin interaction
ENSG00000155100	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1002583	0.81[AMR][1000 genomes]
rs1003996	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10108486	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10112439	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1011254	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12675931	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13265644	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1386111	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1386112	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1486465	0.83[EUR][1000 genomes]
rs1542666	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2129261	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2255173	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2339289	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2339291	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2631012	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2631014	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2631017	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2631024	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2631030	0.92[ASN][1000 genomes]
rs2677573	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2677580	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2740776	0.85[EUR][1000 genomes]
rs2740782	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2740795	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2740799	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4448231	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4634599	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7005565	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7018395	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7825360	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv891185	chr8:91923776-92056288	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91911600-91925800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:91911600-91926000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:91912600-91925200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:91916400-91953000	Weak transcription	Aorta	Aorta
5	chr8:91923000-91924800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:91923200-91924400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:91923200-91925200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr8:91923200-91925600	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:91923200-91928000	Weak transcription	Left Ventricle	heart
10	chr8:91923800-91926800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr8:91924000-91927000	Enhancers	Fetal Lung	lung
12	chr8:91924200-91924600	Enhancers	Fetal Stomach	stomach
13	chr8:91924200-91924800	Weak transcription	Fetal Heart	heart
14	chr8:91924200-91926600	Enhancers	Brain Substantia Nigra	brain
15	chr8:91924200-91926800	Enhancers	Brain Angular Gyrus	brain

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