Variant report

Variant	rs11264479
Chromosome Location	chr1:156342306-156342307
allele	A/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	MYBL2	chr1:156341149-156342364	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:156341147-156344127	HepG2	liver:	n/a	n/a
3	USF1	chr1:156341737-156342344	HCT-116	colon:	n/a	n/a
4	POLR2A	chr1:156336907-156344214	HepG2	liver:	n/a	n/a
5	MAX	chr1:156341197-156342332	HepG2	liver:	n/a	chr1:156341772-156341782
6	HEY1	chr1:156341169-156342527	HepG2	liver:	n/a	n/a
7	HEY1	chr1:156341184-156343184	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:156335306..156343282-chr1:156347773..156352892,8	MCF-7	breast:
2	chr1:156341941..156343974-chr1:156352114..156354913,2	K562	blood:
3	chr1:156326557..156327290-chr1:156342036..156342992,2	MCF-7	breast:

Variant related genes	Relation type
CCT3	TF binding region
ENSG00000132677	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11264478	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129175	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12131479	0.91[ASN][1000 genomes]
rs12135970	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12141630	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases
2	nsv1011302	chr1:156081561-156532624	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	380 gene(s)	inside rSNPs	diseases
3	nsv915822	chr1:156226286-156651655	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
4	nsv872471	chr1:156287360-156356480	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv470742	chr1:156335111-156354367	Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv1793632	chr1:156338992-156366178	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
7	nsv946358	chr1:156339735-156342442	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:156339600-156358000	Weak transcription	Right Atrium	heart
2	chr1:156339800-156342600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:156339800-156342800	Weak transcription	Pancreas	Pancrea
4	chr1:156339800-156343800	Weak transcription	Right Ventricle	heart
5	chr1:156340000-156343000	Enhancers	Fetal Intestine Small	intestine
6	chr1:156340200-156344400	Enhancers	Ovary	ovary
7	chr1:156340400-156343000	Flanking Active TSS	HepG2	liver
8	chr1:156341000-156344200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:156341200-156342400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:156341400-156342400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:156341800-156342400	Enhancers	HSMMtube	muscle
12	chr1:156341800-156342400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:156342000-156342600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:156342000-156342600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:156342000-156343600	Weak transcription	A549	lung
16	chr1:156342000-156344200	Enhancers	Fetal Intestine Large	intestine
17	chr1:156342000-156346200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:156342000-156348000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:156342200-156345600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:156342200-156346800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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