Variant report

Variant	rs4699723
Chromosome Location	chr4:100083937-100083938
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99916019..99918646-chr4:100083097..100084598,2	K562	blood:

Variant related genes	Relation type
ENSG00000164024	Chromatin interaction
ENSG00000265213	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10014222	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1229968	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1229983	0.87[AMR][1000 genomes]
rs1229985	0.87[AMR][1000 genomes]
rs1229986	0.81[AMR][1000 genomes]
rs1229988	0.87[AMR][1000 genomes]
rs1230015	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1230017	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1230021	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1230024	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1230029	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1230030	0.81[AMR][1000 genomes]
rs1235416	0.87[AMR][1000 genomes]
rs1573495	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17028500	0.88[AMR][1000 genomes]
rs1789875	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1789877	0.87[AMR][1000 genomes]
rs1789878	0.87[AMR][1000 genomes]
rs1789879	0.87[AMR][1000 genomes]
rs1789880	0.81[AMR][1000 genomes]
rs1789883	0.87[AMR][1000 genomes]
rs1789897	0.84[EUR][1000 genomes]
rs1893881	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1984360	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1984361	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1984365	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2032349	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2156734	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2213030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2213031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2213034	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2602886	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2866039	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2866041	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28730582	0.88[AMR][1000 genomes]
rs28730612	0.87[AMR][1000 genomes]
rs29001345	0.88[AMR][1000 genomes]
rs29001347	0.88[AMR][1000 genomes]
rs2903167	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3018045	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4407513	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4502688	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4613578	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4699715	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4699719	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6532797	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6532800	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6532801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6532807	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6824171	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6828364	0.82[EUR][1000 genomes]
rs6836440	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6848576	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6855482	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7691700	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9307234	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1002927	chr4:99952472-100148690	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	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
4	nsv1005446	chr4:99988287-100121669	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv537196	chr4:99988287-100121669	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1002574	chr4:100023999-100133693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv3528915	chr4:100025155-100096234	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3528916	chr4:100025155-100096234	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv3355763	chr4:100070566-100376814	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv879657	chr4:100082154-100139366	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100035000-100098200	Weak transcription	Ovary	ovary
2	chr4:100065600-100096600	Weak transcription	Fetal Lung	lung
3	chr4:100072200-100101400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:100074600-100085400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr4:100078800-100088400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:100082800-100101200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:100083000-100098200	Weak transcription	Aorta	Aorta
8	chr4:100083200-100084200	Weak transcription	Liver	Liver
9	chr4:100083200-100087000	Weak transcription	HepG2	liver
10	chr4:100083200-100088400	Weak transcription	Pancreas	Pancrea
11	chr4:100083800-100086400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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