Variant report

Variant	rs7757014
Chromosome Location	chr6:49491690-49491691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:49490849..49492820-chr6:49573343..49575149,2	K562	blood:
2	chr6:49491433..49493267-chr6:49495849..49497648,2	K562	blood:
3	chr6:49484253..49486777-chr6:49490670..49492739,2	MCF-7	breast:
4	chr6:49491548..49493793-chr6:49512866..49514473,2	MCF-7	breast:
5	chr6:49490843..49493416-chr6:49495370..49497903,2	MCF-7	breast:
6	chr6:49490212..49493112-chr6:49495584..49498171,4	MCF-7	breast:
7	chr6:49490904..49493467-chr6:49517313..49519510,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197261	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12190131	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12214753	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1480611	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1480612	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1480613	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1480615	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1947861	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2061972	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2061973	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2127754	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2498470	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2498471	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2498472	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2501969	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2501970	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2501971	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4715134	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6942364	0.91[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7739192	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7740682	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9296618	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9357618	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9367357	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9367359	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9369904	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9369906	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9381791	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9381792	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9395499	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9395500	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9395504	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9463491	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9473567	0.92[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9473582	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024959	chr6:49290141-49652124	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021136	chr6:49295037-49631278	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv885881	chr6:49439805-49575141	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv933942	chr6:49480550-50004231	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49484200-49496000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:49489400-49496400	Enhancers	Liver	Liver
3	chr6:49490400-49491800	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr6:49491000-49492200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr6:49491000-49492400	Enhancers	Stomach Mucosa	stomach
6	chr6:49491000-49492600	Enhancers	Fetal Intestine Small	intestine
7	chr6:49491400-49492400	Weak transcription	Gastric	stomach
8	chr6:49491400-49494400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:49491400-49495400	Enhancers	HepG2	liver
10	chr6:49491600-49492000	Weak transcription	Fetal Intestine Large	intestine

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