Variant report

Variant	rs2298980
Chromosome Location	chr4:110846379-110846380
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110838362..110841252-chr4:110845200..110847898,2	K562	blood:
2	chr4:110838362..110842367-chr4:110842541..110847898,5	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10434002	0.89[ASN][1000 genomes]
rs11568853	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11568862	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11568886	0.99[ASN][1000 genomes]
rs11568901	1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11568910	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11568924	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11568925	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11568927	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11568941	0.96[ASN][1000 genomes]
rs11568946	0.96[ASN][1000 genomes]
rs11568975	0.96[ASN][1000 genomes]
rs11568990	0.89[ASN][1000 genomes]
rs11568991	0.89[ASN][1000 genomes]
rs11569003	0.89[ASN][1000 genomes]
rs16997106	1.00[AMR][1000 genomes]
rs17040989	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17040990	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17041036	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17041134	0.89[ASN][1000 genomes]
rs1860131	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2237043	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2237046	0.89[ASN][1000 genomes]
rs2237047	0.89[ASN][1000 genomes]
rs2237048	0.89[ASN][1000 genomes]
rs2282782	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2282783	1.00[ASN][1000 genomes]
rs2298984	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2298987	0.96[ASN][1000 genomes]
rs2298988	0.96[ASN][1000 genomes]
rs2298994	0.89[ASN][1000 genomes]
rs2298995	0.89[ASN][1000 genomes]
rs2302135	0.89[ASN][1000 genomes]
rs3733628	0.96[ASN][1000 genomes]
rs3756264	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3796949	1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4631111	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59242631	0.89[ASN][1000 genomes]
rs887027	0.89[ASN][1000 genomes]
rs9307346	1.00[AMR][1000 genomes];0.98[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	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	esv1805263	chr4:110840722-110848490	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv1804723	chr4:110840748-110846796	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1804837	chr4:110840748-110846796	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1808922	chr4:110840748-110846796	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1813652	chr4:110840748-110846796	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv1813951	chr4:110840748-110862637	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110836800-110849400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:110840600-110849200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:110842800-110849200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:110843000-110876200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:110843200-110849200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr4:110843200-110851000	Weak transcription	Pancreas	Pancrea
7	chr4:110844000-110849400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:110844000-110850400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:110845600-110846400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr4:110845600-110846600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:110845800-110847000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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