Variant report

Variant	rs2069068
Chromosome Location	chr1:209984013-209984014
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr1:209983434-209984769	SK-N-SH	brain:	n/a	chr1:209983925-209983939

No.	Distal block	Cell Line	Cell type
1	chr1:209979695..209981280-chr1:209983415..209985096,2	K562	blood:
2	chr1:209977871..209984485-chr1:209998424..210002427,6	K562	blood:
3	chr1:209976817..209979056-chr1:209982865..209985197,2	K562	blood:
4	chr1:209979780..209981458-chr1:209981509..209984915,3	K562	blood:

Variant related genes	Relation type
IRF6	TF binding region
ENSG00000117597	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10489343	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10779514	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10779515	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10863789	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863790	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1109430	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11119346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119347	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119348	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12064398	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12069187	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12075674	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12080691	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12081405	0.86[EUR][1000 genomes]
rs12083685	0.80[EUR][1000 genomes]
rs12405750	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12566152	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13375020	0.96[AFR][1000 genomes]
rs17015217	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17015255	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17015268	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1856161	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2235371	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2235377	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3753517	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41274836	0.86[EUR][1000 genomes]
rs4329516	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4844494	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4844496	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209979600-209985000	Weak transcription	Gastric	stomach
2	chr1:209979800-209989200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:209980800-209984400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:209980800-209985600	Enhancers	HMEC	breast
5	chr1:209981000-209985800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:209981200-209984400	Enhancers	NHEK	skin
7	chr1:209981600-209984200	Enhancers	Fetal Thymus	thymus
8	chr1:209981800-209984600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:209981800-209989200	Weak transcription	Esophagus	oesophagus
10	chr1:209981800-209989600	Weak transcription	Spleen	Spleen
11	chr1:209981800-209989800	Weak transcription	Right Atrium	heart
12	chr1:209982000-209989200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:209982400-209984200	Weak transcription	K562	blood
14	chr1:209982400-209989200	Weak transcription	Placenta	Placenta
15	chr1:209983400-209984400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:209983600-209985400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:209984000-209984400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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