Variant report

Variant	rs4714719
Chromosome Location	chr6:43932612-43932613
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:43797469..43800161-chr6:43930572..43932746,2	K562	blood:
2	chr6:43736686..43739448-chr6:43929738..43933762,4	K562	blood:
3	chr6:43737948..43739824-chr6:43930992..43933762,2	K562	blood:

Variant related genes	Relation type
ENSG00000112715	Chromatin interaction
ENSG00000272114	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11757868	0.83[AMR][1000 genomes]
rs11757888	0.83[AMR][1000 genomes]
rs11757903	0.82[AMR][1000 genomes]
rs12205248	0.82[AMR][1000 genomes]
rs13206436	0.82[AMR][1000 genomes]
rs4320361	0.81[AMR][1000 genomes]
rs4349808	0.81[AMR][1000 genomes]
rs4349809	0.80[AMR][1000 genomes]
rs4382251	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4413611	0.80[AMR][1000 genomes]
rs4481426	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4513773	0.82[AMR][1000 genomes]
rs4637627	0.82[AMR][1000 genomes]
rs6916540	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7745183	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7745184	0.85[EUR][1000 genomes]
rs7763440	0.82[AMR][1000 genomes]
rs7767396	0.81[AMR][1000 genomes]
rs943075	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9462949	0.83[AMR][1000 genomes]
rs9472168	0.82[AMR][1000 genomes]
rs9472170	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9472171	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472172	0.82[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:43929800-43936600	Enhancers	K562	blood
2	chr6:43932000-43933000	Enhancers	Esophagus	oesophagus
3	chr6:43932000-43933200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr6:43932000-43933400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:43932200-43933800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:43932200-43934000	Enhancers	Fetal Intestine Large	intestine
7	chr6:43932400-43932800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:43932400-43933000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:43932400-43933000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr6:43932400-43933000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:43932400-43933200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:43932400-43933400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:43932400-43933400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr6:43932400-43933600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:43932400-43933600	Enhancers	Fetal Intestine Small	intestine
16	chr6:43932400-43933800	Enhancers	H9 Cell Line	embryonic stem cell
17	chr6:43932600-43932800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr6:43932600-43932800	Enhancers	HepG2	liver
19	chr6:43932600-43933400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:43932600-43936400	Weak transcription	Spleen	Spleen
21	chr6:43932600-43937000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:43932600-43938200	Weak transcription	Pancreas	Pancrea

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