Variant report

Variant	rs8029172
Chromosome Location	chr15:55701752-55701753
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF3C2	chr15:55700766-55701779	Hela-S3	cervix:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:55687261..55690621-chr15:55699123..55703142,5	K562	blood:
2	chr15:55607556..55615100-chr15:55699006..55703115,13	K562	blood:
3	chr15:55609877..55611698-chr15:55698360..55701817,3	MCF-7	breast:
4	chr15:55701169..55703678-chr15:55710788..55712535,2	MCF-7	breast:
5	chr15:55608625..55613147-chr15:55698683..55702764,8	MCF-7	breast:
6	chr15:55607682..55613892-chr15:55697623..55703247,7	K562	blood:
7	chr15:55631303..55633200-chr15:55699872..55702073,2	MCF-7	breast:

No data

Variant related genes	Relation type
CCPG1	TF binding region
ENSG00000069974	Chromatin interaction
ENSG00000069943	Chromatin interaction
ENSG00000260916	Chromatin interaction
ENSG00000225973	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11631285	1.00[AFR][1000 genomes]
rs11855303	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12900515	1.00[AMR][1000 genomes]
rs12911195	1.00[AFR][1000 genomes]
rs12912400	1.00[AFR][1000 genomes]
rs12914468	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2247458	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs2414413	0.97[AFR][1000 genomes]
rs2444040	0.97[AFR][1000 genomes]
rs2444041	0.97[AFR][1000 genomes]
rs2444042	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs2447713	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs28368404	0.97[AFR][1000 genomes]
rs4553564	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs511132	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs537575	0.97[AFR][1000 genomes]
rs540393	0.97[AFR][1000 genomes]
rs550013	1.00[AFR][1000 genomes]
rs551834	0.97[AFR][1000 genomes]
rs587049	1.00[AFR][1000 genomes]
rs593431	1.00[AFR][1000 genomes]
rs596262	1.00[AFR][1000 genomes]
rs61498471	1.00[AFR][1000 genomes]
rs62019993	0.90[AFR][1000 genomes]
rs626248	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs6493782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6493784	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6493786	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs691062	0.90[AFR][1000 genomes]
rs691212	0.90[AFR][1000 genomes]
rs691514	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs7162868	1.00[AMR][1000 genomes]
rs7163097	0.90[AFR][1000 genomes]
rs7169473	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7169776	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7169910	0.93[AFR][1000 genomes]
rs7174186	1.00[AFR][1000 genomes]
rs7180824	1.00[AFR][1000 genomes]
rs73411059	1.00[AMR][1000 genomes]
rs8024227	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs8025982	1.00[AFR][1000 genomes]
rs8028806	0.82[AFR][1000 genomes]
rs8029091	1.00[AMR][1000 genomes]
rs8039104	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1051046	chr15:55529291-55821973	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1036173	chr15:55547689-55812194	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv542391	chr15:55547689-55812194	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv569523	chr15:55555602-55836704	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv1040917	chr15:55562940-55943942	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv531054	chr15:55571230-55914205	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv904243	chr15:55627528-55734158	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv948522	chr15:55639867-56032099	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv520799	chr15:55645661-55760522	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv1041635	chr15:55658171-55943942	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv904244	chr15:55687969-55770911	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55699200-55701800	Active TSS	Hela-S3	cervix
2	chr15:55700000-55701800	Active TSS	Fetal Brain Female	brain
3	chr15:55701200-55701800	Enhancers	Fetal Brain Male	brain
4	chr15:55701200-55713800	Weak transcription	Ovary	ovary
5	chr15:55701400-55701800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr15:55701400-55701800	Enhancers	Osteobl	bone
7	chr15:55701400-55703000	Weak transcription	Fetal Kidney	kidney
8	chr15:55701400-55712400	Weak transcription	HSMMtube	muscle
9	chr15:55701400-55713200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr15:55701600-55701800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr15:55701600-55701800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr15:55701600-55713200	Weak transcription	Brain Angular Gyrus	brain
13	chr15:55701600-55715000	Weak transcription	Pancreas	Pancrea
14	chr15:55701600-55729800	Weak transcription	Fetal Stomach	stomach

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