Variant report

Variant	rs2470595
Chromosome Location	chr15:52284001-52284002
allele	C/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:52273618..52277217-chr15:52282042..52285418,5	MCF-7	breast:
2	chr15:52282163..52285115-chr15:52470451..52472348,2	MCF-7	breast:
3	chr15:52281191..52288853-chr15:52309308..52312882,12	MCF-7	breast:
4	chr15:52261424..52264109-chr15:52282662..52284988,3	MCF-7	breast:
5	chr15:52283952..52287238-chr15:52310282..52312766,5	K562	blood:
6	chr15:52283884..52286348-chr15:52313053..52314666,2	K562	blood:
7	chr15:52277079..52289117-chr15:52304221..52314916,38	MCF-7	breast:
8	chr15:52262225..52265221-chr15:52281760..52284176,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000069966	Chromatin interaction
ENSG00000259438	Chromatin interaction
ENSG00000069956	Chromatin interaction
ENSG00000259577	Chromatin interaction
ENSG00000166477	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10152141	0.93[ASN][1000 genomes]
rs10518675	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs16964694	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16964700	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16964705	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16964720	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17540338	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs17612255	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17612326	1.00[EUR][1000 genomes]
rs2001741	0.93[ASN][1000 genomes]
rs2017967	0.88[ASN][1000 genomes]
rs2246726	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2414120	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2414123	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2441779	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470593	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470594	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2554340	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2899484	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3099571	0.95[ASN][1000 genomes]
rs4375608	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4456445	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4491448	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs4775993	0.88[ASN][1000 genomes]
rs4775995	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4775996	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4775997	1.00[CHB][hapmap]
rs55714716	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55873482	0.93[ASN][1000 genomes]
rs56307802	0.88[ASN][1000 genomes]
rs56677715	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58000475	0.91[ASN][1000 genomes]
rs61546369	0.93[ASN][1000 genomes]
rs7177328	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs732097	0.90[CHB][hapmap]
rs7359204	0.98[ASN][1000 genomes]
rs74013636	0.98[ASN][1000 genomes]
rs74013638	0.93[ASN][1000 genomes]
rs74013640	0.93[ASN][1000 genomes]
rs74013641	0.93[ASN][1000 genomes]
rs74013642	0.93[ASN][1000 genomes]
rs74013644	0.88[ASN][1000 genomes]
rs74013645	0.88[ASN][1000 genomes]
rs74013646	0.88[ASN][1000 genomes]
rs74013647	0.88[ASN][1000 genomes]
rs74013648	0.88[ASN][1000 genomes]
rs74013653	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74013654	0.88[ASN][1000 genomes]
rs74013656	0.86[ASN][1000 genomes]
rs74013657	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74013659	1.00[EUR][1000 genomes]
rs7497554	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs751560	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8033365	0.86[ASN][1000 genomes]
rs8033840	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8036048	0.83[ASN][1000 genomes]
rs8040728	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8041281	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9796534	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053788	chr15:52223389-52307138	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1047260	chr15:52257100-52337418	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
3	nsv1050664	chr15:52265723-52342101	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv517399	chr15:52266878-52305464	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1536	chr15:52276293-52320919	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription 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	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52274600-52284600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr15:52274800-52287200	Weak transcription	HSMMtube	muscle
3	chr15:52284000-52285000	Weak transcription	A549	lung
4	chr15:52284000-52285000	Weak transcription	Hela-S3	cervix

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