Variant report

Variant	rs2247415
Chromosome Location	chr5:90155553-90155554
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90154787..90156401-chr5:90675370..90677710,2	MCF-7	breast:
2	chr5:90153989..90156687-chr5:90157303..90159690,2	MCF-7	breast:
3	chr5:90149504..90153265-chr5:90155365..90159607,4	K562	blood:
4	chr5:90153756..90156660-chr5:90161187..90163810,2	K562	blood:
5	chr5:90150790..90152921-chr5:90154624..90158085,3	K562	blood:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction
ENSG00000164199	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10045071	0.85[CHB][hapmap];0.87[ASN][1000 genomes]
rs10052015	0.92[CHB][hapmap]
rs10053303	0.92[CHB][hapmap]
rs10059629	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs10060641	0.92[CHB][hapmap]
rs10075623	0.86[ASN][1000 genomes]
rs10078496	0.92[CHB][hapmap]
rs10474336	0.83[CHB][hapmap]
rs12054681	0.92[CHB][hapmap]
rs12520956	0.91[CHB][hapmap]
rs12522395	0.84[CHB][hapmap]
rs13159353	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16869175	0.92[CHB][hapmap];0.82[JPT][hapmap];0.96[ASN][1000 genomes]
rs2247419	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2247546	0.86[EUR][1000 genomes]
rs2247870	0.86[EUR][1000 genomes]
rs2366935	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs2438338	0.92[CHB][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2438342	0.92[CHB][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2438343	1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2438344	1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2438345	0.92[CHB][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2438351	0.83[CHB][hapmap]
rs2438353	1.00[CHB][hapmap]
rs2443068	0.92[CHB][hapmap];0.86[ASN][1000 genomes]
rs2443089	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3098356	0.92[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4916698	0.92[CHB][hapmap]
rs4916827	0.92[CHB][hapmap]
rs4916829	0.92[CHB][hapmap]
rs6865577	0.99[ASN][1000 genomes]
rs6878896	0.92[CHB][hapmap]
rs6890101	0.86[ASN][1000 genomes]
rs7724016	0.92[CHB][hapmap]
rs881289	0.89[CHB][hapmap]

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	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv882367	chr5:89956991-90209824	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv1015449	chr5:89968626-90219398	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv517049	chr5:90003131-90262475	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90112000-90160600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr5:90112000-90175800	Weak transcription	Fetal Brain Female	brain
3	chr5:90142400-90156200	Weak transcription	Fetal Brain Male	brain
4	chr5:90142600-90162400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:90148200-90171400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:90148400-90164800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:90150400-90158200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:90150400-90159800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:90151600-90162400	Weak transcription	K562	blood
10	chr5:90151800-90174000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:90151800-90174600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:90152000-90165000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:90152200-90158000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:90152600-90157800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:90153400-90157600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:90155200-90158000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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