Variant report

Variant	rs2082637
Chromosome Location	chr14:39672488-39672489
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:39666993..39668682-chr14:39671014..39673008,3	K562	blood:
2	chr14:39659021..39661410-chr14:39671300..39673162,2	K562	blood:
3	chr14:39646608..39648322-chr14:39671644..39674321,2	K562	blood:
4	chr14:39669831..39673091-chr14:39734420..39737193,3	MCF-7	breast:
5	chr14:39582452..39584662-chr14:39670252..39672838,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150527	Chromatin interaction
ENSG00000258941	Chromatin interaction
ENSG00000100941	Chromatin interaction
ENSG00000092208	Chromatin interaction
ENSG00000258940	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10132953	0.84[AFR][1000 genomes]
rs10149829	0.90[AFR][1000 genomes]
rs11157046	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11157047	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11157048	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434607	0.86[AMR][1000 genomes]
rs12895329	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs175341	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1956629	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964842	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2038357	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2099410	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2180214	0.90[AFR][1000 genomes]
rs2180217	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2180792	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252040	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3899404	0.83[AFR][1000 genomes]
rs4290398	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4616209	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4902402	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4902419	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56163817	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6571890	0.90[AFR][1000 genomes]
rs6571891	0.90[AFR][1000 genomes]
rs6571894	0.90[AFR][1000 genomes]
rs6571896	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6571897	0.85[ASN][1000 genomes]
rs6571904	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6571905	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7147760	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154585	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs761804	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs761806	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs761807	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8003194	0.90[AFR][1000 genomes]
rs8003485	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8003807	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8010111	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011855	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8014255	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8014677	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8021225	0.91[ASN][1000 genomes]
rs8022141	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9322993	1.00[ASN][1000 genomes]
rs9671927	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][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	nsv1246	chr14:39656597-39701520	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1053133	chr14:39657535-39770729	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv974270	chr14:39664152-39680061	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39668200-39673000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr14:39671200-39672800	Enhancers	Hela-S3	cervix
3	chr14:39671400-39672600	Enhancers	A549	lung
4	chr14:39671600-39672600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr14:39671600-39672800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:39671800-39672800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:39672000-39674000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:39672000-39674000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:39672000-39674000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:39672400-39673200	Flanking Active TSS	HepG2	liver
11	chr14:39672400-39673600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr14:39672400-39674000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:39672400-39674000	Enhancers	Fetal Intestine Large	intestine

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