Variant report

Variant	rs2298747
Chromosome Location	chr4:100532253-100532254
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:100523473..100525499-chr4:100530988..100533499,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10516446	0.98[ASN][1000 genomes]
rs11097667	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11097669	0.91[CEU][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12640855	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12643429	0.98[ASN][1000 genomes]
rs12647527	0.91[CEU][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12648918	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1352777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17029104	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17029135	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17029142	0.91[CEU][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17029165	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17029251	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17029277	0.86[ASN][1000 genomes]
rs17029292	0.86[ASN][1000 genomes]
rs2306984	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3792681	0.99[ASN][1000 genomes]
rs3828542	0.98[ASN][1000 genomes]
rs4235440	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4699384	0.89[ASN][1000 genomes]
rs4699385	0.86[ASN][1000 genomes]
rs4699754	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4699756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59702776	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61074475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6817049	0.86[ASN][1000 genomes]
rs6858032	0.86[ASN][1000 genomes]
rs6858700	0.86[ASN][1000 genomes]
rs72906793	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72908716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72908742	0.90[ASN][1000 genomes]
rs871321	0.86[ASN][1000 genomes]
rs881980	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs931465	1.00[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs956200	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100507800-100533800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr4:100516400-100546200	Strong transcription	Liver	Liver
3	chr4:100518800-100545200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:100522600-100545800	Strong transcription	Fetal Intestine Large	intestine
5	chr4:100524400-100534800	Strong transcription	Duodenum Mucosa	Duodenum
6	chr4:100526600-100535800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:100531400-100533400	Weak transcription	HepG2	liver
8	chr4:100531800-100532600	Enhancers	Fetal Muscle Leg	muscle
9	chr4:100532000-100532400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:100532000-100532400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr4:100532000-100532600	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr4:100532000-100532600	Enhancers	Psoas Muscle	Psoas
13	chr4:100532000-100532800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:100532000-100532800	Active TSS	Aorta	Aorta
15	chr4:100532000-100533000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:100532200-100532400	Genic enhancers	Fetal Intestine Small	intestine
17	chr4:100532200-100532400	Active TSS	Stomach Smooth Muscle	stomach
18	chr4:100532200-100532600	Enhancers	Fetal Lung	lung
19	chr4:100532200-100532800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr4:100532200-100532800	Active TSS	HSMMtube	muscle
21	chr4:100532200-100537000	Enhancers	Colon Smooth Muscle	Colon

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