Variant report

Variant	rs1704365
Chromosome Location	chr15:42297888-42297889
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42297467..42299788-chr15:42301362..42303354,2	K562	blood:
2	chr15:42296627..42298202-chr15:42299779..42302437,2	K562	blood:
3	chr15:42297192..42298173-chr6:74222922..74223467,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188089	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11632711	0.81[YRI][hapmap]
rs12438496	0.86[EUR][1000 genomes]
rs12438854	0.86[EUR][1000 genomes]
rs12439677	0.86[EUR][1000 genomes]
rs12439687	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs12441360	0.86[EUR][1000 genomes]
rs12442934	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs1627062	0.86[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs1668559	0.89[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1668568	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1668569	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1668570	0.91[CHB][hapmap];0.90[JPT][hapmap];0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1704357	0.86[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs1704360	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1704361	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1704363	0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1704364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1704369	1.00[CEU][hapmap];0.89[YRI][hapmap];0.96[EUR][1000 genomes]
rs2598464	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2598468	0.85[ASN][1000 genomes]
rs4924599	0.87[EUR][1000 genomes]
rs4924600	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs4924601	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs6493017	0.95[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs7163374	0.82[JPT][hapmap]
rs9919986	0.86[EUR][1000 genomes]
rs9920824	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv427958	chr15:42051317-42301283	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1038933	chr15:42138456-42309087	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
5	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv1054728	chr15:42177772-42310009	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
8	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42273000-42301800	Weak transcription	Fetal Intestine Small	intestine
2	chr15:42273800-42301800	Weak transcription	Esophagus	oesophagus
3	chr15:42288200-42303400	Weak transcription	Pancreas	Pancrea
4	chr15:42290400-42310400	Weak transcription	Right Atrium	heart
5	chr15:42295000-42302600	Weak transcription	Right Ventricle	heart
6	chr15:42297800-42298600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:42297800-42303400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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