Variant report

Variant	rs2704409
Chromosome Location	chr4:48238049-48238050
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	chr4:48222033..48225544-chr4:48235946..48240353,4	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10433724	0.85[EUR][1000 genomes]
rs11724334	0.85[EUR][1000 genomes]
rs11932069	0.84[EUR][1000 genomes]
rs11934137	0.84[EUR][1000 genomes]
rs12499189	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13143606	0.82[AMR][1000 genomes]
rs1509655	0.82[EUR][1000 genomes]
rs170145	0.82[AMR][1000 genomes]
rs1828297	0.82[EUR][1000 genomes]
rs1848742	0.81[EUR][1000 genomes]
rs1912162	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2136503	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2664024	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2664027	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs309883	0.82[AMR][1000 genomes]
rs309891	0.81[AMR][1000 genomes]
rs309892	0.82[AMR][1000 genomes]
rs368292	0.80[AMR][1000 genomes]
rs373720	0.87[AMR][1000 genomes]
rs379323	0.80[AMR][1000 genomes]
rs4529022	0.84[EUR][1000 genomes]
rs4694892	0.83[EUR][1000 genomes]
rs56063319	0.84[EUR][1000 genomes]
rs58372912	0.84[EUR][1000 genomes]
rs59349478	0.84[EUR][1000 genomes]
rs59741528	0.85[EUR][1000 genomes]
rs62311478	0.84[EUR][1000 genomes]
rs62311498	0.84[EUR][1000 genomes]
rs6447626	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6852406	0.84[EUR][1000 genomes]
rs7657451	0.82[EUR][1000 genomes]
rs7688059	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7693991	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr4:48220400-48242200	Weak transcription	Aorta	Aorta
2	chr4:48230000-48245600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:48235400-48238200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:48236600-48240000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:48237000-48239800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr4:48237000-48239800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr4:48237000-48246200	Weak transcription	Primary B cells from cord blood	blood
8	chr4:48237200-48239400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:48237200-48240000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr4:48237200-48240200	Weak transcription	Stomach Mucosa	stomach
11	chr4:48237400-48239600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr4:48237400-48239800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:48237400-48239800	Weak transcription	K562	blood
14	chr4:48237800-48239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:48238000-48238200	Enhancers	Hela-S3	cervix
16	chr4:48238000-48239400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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