Variant report

Variant	rs2181127
Chromosome Location	chr14:65336455-65336456
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65335678..65337852-chr14:65340686..65343364,4	K562	blood:
2	chr14:65305044..65306724-chr14:65335578..65337620,2	K562	blood:
3	chr14:65333231..65337568-chr14:65342616..65346293,4	K562	blood:
4	chr14:65335703..65338607-chr14:65380232..65382733,2	K562	blood:

Variant related genes	Relation type
ENSG00000125954	Chromatin interaction
ENSG00000258289	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs17102258	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17767870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs230698	0.90[ASN][1000 genomes]
rs230700	0.90[ASN][1000 genomes]
rs230701	0.90[ASN][1000 genomes]
rs230715	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs230718	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs230723	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs372933	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs380741	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61012404	0.82[EUR][1000 genomes]
rs66511472	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66883381	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144515	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7144637	0.82[EUR][1000 genomes]
rs72625636	0.90[ASN][1000 genomes]
rs72625637	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72625638	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72625640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72625641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72625642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72625643	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72625644	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72625645	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72625646	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72625647	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72625648	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73279812	0.82[EUR][1000 genomes]
rs73279816	0.82[EUR][1000 genomes]
rs73279823	0.82[EUR][1000 genomes]
rs73279833	0.82[EUR][1000 genomes]
rs73279834	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693408	chr14:65292670-65358576	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv516238	chr14:65327288-65358576	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65331800-65342400	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr14:65334200-65340800	Weak transcription	Fetal Heart	heart
3	chr14:65334200-65342000	Weak transcription	Right Atrium	heart
4	chr14:65335600-65344600	Weak transcription	Right Ventricle	heart
5	chr14:65336000-65336800	Weak transcription	K562	blood
6	chr14:65336000-65337000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr14:65336200-65337800	Enhancers	Psoas Muscle	Psoas
8	chr14:65336400-65336600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links