Variant report

Variant	rs7567389
Chromosome Location	chr2:127982645-127982646
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	GATA3	chr2:127982577-127982858	T-47D	breast:	n/a	n/a
2	CUX1	chr2:127982644-127982737	K562	blood:	n/a	n/a
3	KAP1	chr2:127982534-127984954	HEK293	kidney:	n/a	chr2:127984532-127984541
4	KAP1	chr2:127982487-127985287	U2OS	brain:	n/a	chr2:127984532-127984541

No.	Distal block	Cell Line	Cell type
1	chr2:127976448..127978493-chr2:127980576..127983526,3	MCF-7	breast:
2	chr2:127965809..127968370-chr2:127982231..127984174,2	K562	blood:
3	chr11:67195868..67198192-chr2:127980594..127982880,2	MCF-7	breast:
4	chr2:127972542..127975941-chr2:127982453..127985678,4	MCF-7	breast:

Variant related genes	Relation type
CYP27C1	TF binding region
ENSG00000175634	Chromatin interaction
ENSG00000186684	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13017099	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13429050	0.88[CHB][hapmap]
rs13431911	0.88[CHB][hapmap]
rs1504136	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1604817	0.89[CHB][hapmap];0.85[EUR][1000 genomes]
rs2404532	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4536600	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs4662714	0.85[EUR][1000 genomes]
rs4662715	0.83[EUR][1000 genomes]
rs6430934	0.94[EUR][1000 genomes]
rs6710496	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585314	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][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	nsv1006112	chr2:127830117-128032546	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2757832	chr2:127830943-128006514	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2759090	chr2:127830943-128006514	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1011378	chr2:127841930-128020546	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv999809	chr2:127841930-128032546	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1010669	chr2:127848860-128032546	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1003599	chr2:127871183-128059407	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv535920	chr2:127871183-128059407	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Self-rated health	20707712	GWAS catalog

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127978600-127983000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:127978600-127983600	Weak transcription	Liver	Liver
3	chr2:127978600-127983800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:127978800-127982800	Weak transcription	Lung	lung
5	chr2:127978800-127983000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:127978800-127983200	Weak transcription	NHEK	skin
7	chr2:127978800-127983600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:127978800-127983800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:127978800-127983800	Weak transcription	HMEC	breast
10	chr2:127979000-127982800	Weak transcription	Fetal Lung	lung
11	chr2:127979000-127983400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:127981200-127983600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:127981200-127983800	Enhancers	Hela-S3	cervix
14	chr2:127981400-127983600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:127982400-127982800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:127982400-127982800	Enhancers	HSMMtube	muscle
17	chr2:127982400-127983000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:127982400-127983200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:127982400-127983600	Enhancers	HSMM	muscle
20	chr2:127982400-127984400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:127982400-127984400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:127982400-127985000	Flanking Active TSS	Osteobl	bone
23	chr2:127982600-127982800	Bivalent Enhancer	Fetal Intestine Small	intestine
24	chr2:127982600-127983200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr2:127982600-127983200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:127982600-127983400	Flanking Active TSS	NH-A	brain
27	chr2:127982600-127983800	Bivalent Enhancer	HepG2	liver
28	chr2:127982600-127984200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:127982600-127984200	Flanking Active TSS	A549	lung
30	chr2:127982600-127984400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:127982600-127984400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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