Variant report

Variant	rs2298983
Chromosome Location	chr4:110874373-110874374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:110749531..110752514-chr4:110872921..110875581,2	K562	blood:
2	chr4:110872886..110875525-chr4:110876414..110878617,3	K562	blood:
3	chr4:110873665..110876586-chr4:110876790..110878901,3	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10014805	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10015002	0.87[EUR][1000 genomes]
rs10017564	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10021157	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10025078	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10025276	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11098057	0.85[AMR][1000 genomes]
rs11568904	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12503113	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12506489	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12506702	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12510173	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12640600	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1860129	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2074390	0.84[AMR][1000 genomes]
rs2190907	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2237040	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2237049	0.85[AMR][1000 genomes]
rs2237051	0.85[AMR][1000 genomes]
rs2237052	0.83[AMR][1000 genomes]
rs2237053	0.83[AMR][1000 genomes]
rs2282784	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2298978	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2298979	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2298989	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2298991	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2298992	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2298993	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2347137	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2881559	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3796944	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796948	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4444903	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6533482	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6533483	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6824594	0.85[AMR][1000 genomes]
rs6855847	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7692976	0.81[AMR][1000 genomes]
rs882405	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs882471	0.84[AMR][1000 genomes]
rs929446	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9994491	0.87[EUR][1000 genomes]
rs9994509	0.85[EUR][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	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

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110843000-110876200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:110860600-110906600	Weak transcription	Psoas Muscle	Psoas
3	chr4:110860800-110874800	Weak transcription	Pancreas	Pancrea
4	chr4:110864000-110876400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:110869600-110888000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:110872000-110883600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:110872000-110885200	Weak transcription	Left Ventricle	heart
8	chr4:110873400-110880200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr4:110873800-110874400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:110873800-110874400	Enhancers	NHEK	skin
11	chr4:110873800-110874600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:110874000-110874400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr4:110874000-110874400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:110874000-110874800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr4:110874000-110874800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr4:110874000-110875000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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