Variant report

Variant	rs4666747
Chromosome Location	chr2:188848616-188848617
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:188848430..188851142-chr2:188854164..188855843,2	K562	blood:
2	chr2:188848294..188849796-chr2:188850088..188853065,2	MCF-7	breast:
3	chr2:188848430..188852536-chr2:188854164..188857250,4	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10178187	0.93[EUR][1000 genomes]
rs10179589	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10931319	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1400073	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1516118	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1516119	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1516120	0.89[EUR][1000 genomes]
rs1516130	1.00[EUR][1000 genomes]
rs1850179	0.81[EUR][1000 genomes]
rs1898909	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1992281	0.93[EUR][1000 genomes]
rs2016373	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2165153	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2350194	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4667199	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4667202	0.93[EUR][1000 genomes]
rs6711838	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7419931	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7571862	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533353	chr2:188498301-189024655	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875597	chr2:188573244-188916290	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1011832	chr2:188631943-188896492	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv536087	chr2:188631943-188896492	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv584041	chr2:188644642-188928433	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv523293	chr2:188774681-188928433	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv470503	chr2:188837548-188896397	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv584043	chr2:188837548-188896397	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188842800-188851000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:188843200-188850000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:188843200-188851000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:188843400-188850400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:188843400-188850400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:188843400-188850400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:188843600-188850600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:188844200-188850400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:188847200-188848800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:188847200-188849200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:188847600-188849000	Enhancers	Primary B cells from peripheral blood	blood
12	chr2:188848000-188849000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:188848000-188851000	Weak transcription	Aorta	Aorta
14	chr2:188848200-188848800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr2:188848200-188848800	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr2:188848400-188851200	Weak transcription	NHDF-Ad	bronchial
17	chr2:188848400-188851600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:188848600-188848800	Weak transcription	Psoas Muscle	Psoas
19	chr2:188848600-188850000	Weak transcription	Liver	Liver
20	chr2:188848600-188851200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:188848600-188851200	Weak transcription	GM12878-XiMat	blood
22	chr2:188848600-188852600	Weak transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links