Variant report

Variant	rs7730334
Chromosome Location	chr5:111495150-111495151
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	chr5:110427977..110430088-chr5:111495107..111498582,4	K562	blood:
2	chr5:111091669..111093632-chr5:111494994..111496527,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134987	Chromatin interaction
ENSG00000134986	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs17134152	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17134153	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs17134154	0.81[EUR][1000 genomes]
rs17134156	0.81[EUR][1000 genomes]
rs17134238	1.00[JPT][hapmap]
rs17265886	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17266115	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17266727	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17266771	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17651424	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1975014	0.87[ASN][1000 genomes]
rs55641410	0.81[EUR][1000 genomes]
rs55812441	1.00[ASN][1000 genomes]
rs56071312	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56092269	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56158171	1.00[ASN][1000 genomes]
rs57349429	0.89[EUR][1000 genomes]
rs57541807	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60370278	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61482608	1.00[ASN][1000 genomes]
rs6898536	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73227487	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73227490	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73227492	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73227493	0.89[EUR][1000 genomes]
rs73227496	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73227498	0.82[EUR][1000 genomes]
rs73787775	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73787779	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73787781	1.00[ASN][1000 genomes]
rs73787782	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73787784	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7449256	1.00[ASN][1000 genomes]
rs7700705	1.00[ASN][1000 genomes]
rs7711555	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7720064	1.00[ASN][1000 genomes]
rs7720344	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7731129	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs919243	1.00[CHB][hapmap];0.87[ASN][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	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111489000-111496000	Weak transcription	Gastric	stomach
2	chr5:111491200-111496000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:111491200-111496200	Weak transcription	Aorta	Aorta
4	chr5:111491400-111495800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr5:111491400-111496000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:111491600-111496000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:111492400-111496200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:111492400-111496200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:111492600-111496000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:111493600-111496000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:111494200-111496000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr5:111494200-111496400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:111494400-111496000	Enhancers	Fetal Lung	lung
14	chr5:111494600-111496000	Enhancers	NHDF-Ad	bronchial
15	chr5:111494800-111496000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:111495000-111495200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:111495000-111495200	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr5:111495000-111495400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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