Variant report

Variant	rs4405750
Chromosome Location	chr2:233913947-233913948
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233912317..233915187-chr2:233920888..233923160,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10211511	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694923	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13017176	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017623	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13391656	0.82[ASN][1000 genomes]
rs13392069	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401226	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13408428	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13408980	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2344913	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28574597	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34177313	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34383725	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34513284	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34779565	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35213087	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35237010	0.82[ASN][1000 genomes]
rs35487055	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073603	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4439944	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56279626	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62194574	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759511	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917223	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917354	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917366	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917368	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv876012	chr2:233899377-233996429	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233909400-233915800	Weak transcription	Right Atrium	heart
2	chr2:233912400-233915000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr2:233912800-233914600	Enhancers	Fetal Muscle Leg	muscle
4	chr2:233913400-233914400	Enhancers	HMEC	breast
5	chr2:233913400-233914400	Enhancers	HSMMtube	muscle
6	chr2:233913400-233916000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:233913600-233914000	Enhancers	Esophagus	oesophagus
8	chr2:233913600-233914000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr2:233913600-233914200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:233913600-233914600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:233913600-233914800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr2:233913600-233914800	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr2:233913600-233914800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:233913600-233915000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:233913800-233914000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:233913800-233914200	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr2:233913800-233914400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:233913800-233914600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:233913800-233914600	Enhancers	Duodenum Mucosa	Duodenum
20	chr2:233913800-233914600	Enhancers	HSMM	muscle
21	chr2:233913800-233915000	Enhancers	NHEK	skin
22	chr2:233913800-233916000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:233913800-233916000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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