Variant report

Variant	rs8020110
Chromosome Location	chr14:104389231-104389232
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104380212..104384984-chr14:104386073..104389493,7	MCF-7	breast:
2	chr14:104382782..104384998-chr14:104387935..104389559,2	K562	blood:
3	chr14:104387945..104390196-chr14:104396396..104397958,2	MCF-7	breast:
4	chr14:104388901..104390862-chr14:104393087..104395291,2	MCF-7	breast:
5	chr14:104389161..104391143-chr14:104411439..104413629,2	K562	blood:
6	chr14:104387889..104389624-chr14:104583359..104585962,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156411	Chromatin interaction
ENSG00000156414	Chromatin interaction
ENSG00000207568	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10129730	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10131031	1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs10131231	0.82[AMR][1000 genomes]
rs10131792	0.84[AFR][1000 genomes]
rs10137676	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10137889	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs10139210	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs10140292	1.00[JPT][hapmap]
rs10142365	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10145882	1.00[JPT][hapmap]
rs10149898	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12436665	1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs12437404	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17101922	1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2295662	0.80[AMR][1000 genomes]
rs2368996	1.00[JPT][hapmap]
rs28407129	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28439019	0.82[AMR][1000 genomes]
rs28493894	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28563863	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28593161	0.83[AMR][1000 genomes]
rs28715405	0.83[AMR][1000 genomes]
rs34606901	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4900603	1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4900606	1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs4906384	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4906386	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4906388	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4906393	1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs4906394	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4906403	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4906407	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs55746000	0.83[AMR][1000 genomes]
rs55866217	0.83[AMR][1000 genomes]
rs55920546	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56050561	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56279366	0.83[AMR][1000 genomes]
rs56817754	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56872578	0.86[AMR][1000 genomes]
rs58071582	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58220415	0.86[AMR][1000 genomes]
rs58701300	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59838226	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7150795	1.00[JPT][hapmap]
rs74086761	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74086762	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74086783	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs74086977	0.83[AMR][1000 genomes]
rs8004485	0.88[AMR][1000 genomes]
rs8007491	1.00[JPT][hapmap]
rs8009847	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8022769	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9324070	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9671924	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
7	nsv1048353	chr14:104361402-104483286	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer 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	18 gene(s)	inside rSNPs	diseases
8	nsv902322	chr14:104365310-104464809	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv902323	chr14:104381687-104464809	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104388200-104390000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr14:104388200-104390200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:104388200-104392000	Enhancers	Primary hematopoietic stem cells	blood
4	chr14:104388200-104393800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:104388400-104389400	Weak transcription	K562	blood
6	chr14:104388400-104389600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr14:104388400-104389600	Weak transcription	Placenta	Placenta
8	chr14:104388400-104389800	Weak transcription	Fetal Heart	heart
9	chr14:104388400-104389800	Weak transcription	HUVEC	blood vessel
10	chr14:104388400-104390000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:104388400-104390000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr14:104388400-104390000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:104388400-104390000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:104388400-104390000	Weak transcription	Liver	Liver
15	chr14:104388400-104391600	Weak transcription	HepG2	liver
16	chr14:104388400-104392200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:104388600-104389800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr14:104388600-104390000	Weak transcription	Primary monocytes fromperipheralblood	blood

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