Variant report

Variant	rs34452532
Chromosome Location	chr7:12736032-12736033
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12735943..12738282-chr7:12934413..12937137,2	K562	blood:
2	chr7:12729298..12731295-chr7:12733837..12736086,2	MCF-7	breast:
3	chr7:12734430..12737342-chr7:13081793..13084247,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12699414	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13221298	0.94[AMR][1000 genomes]
rs13221458	0.94[AMR][1000 genomes]
rs13222937	0.94[AMR][1000 genomes]
rs13224178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13224841	0.88[AMR][1000 genomes]
rs13224956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13227930	1.00[AFR][1000 genomes]
rs13232089	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13242483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13244046	0.94[AMR][1000 genomes]
rs17616248	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17616514	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28877021	1.00[ASN][1000 genomes]
rs34250068	0.94[AMR][1000 genomes]
rs34539754	1.00[AFR][1000 genomes]
rs34566369	1.00[AFR][1000 genomes]
rs34580221	1.00[AFR][1000 genomes]
rs34811312	0.94[AMR][1000 genomes]
rs35044018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35091099	0.94[AMR][1000 genomes]
rs35268481	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35908302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55659055	1.00[ASN][1000 genomes]
rs55831963	0.94[AMR][1000 genomes]
rs56031342	0.94[AMR][1000 genomes]
rs56178138	0.94[AMR][1000 genomes]
rs56246037	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66620565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs66931243	0.94[AMR][1000 genomes]
rs67346212	1.00[AFR][1000 genomes]
rs71529345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71536892	0.94[AMR][1000 genomes]
rs71536895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048799	0.94[AMR][1000 genomes]
rs73053419	0.94[AMR][1000 genomes]
rs73053466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73055418	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73055421	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73055427	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73055444	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73055447	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73055457	1.00[ASN][1000 genomes]
rs73055460	1.00[ASN][1000 genomes]
rs73055475	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73055491	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73061007	1.00[ASN][1000 genomes]
rs73061023	1.00[ASN][1000 genomes]
rs73061030	1.00[ASN][1000 genomes]
rs892714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[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	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv1794967	chr7:12710385-12758624	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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 lncRNA miRNA target site	37 gene(s)	inside rSNPs	n/a
7	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	esv2762652	chr7:12733802-12749636	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12730200-12739000	Weak transcription	Placenta	Placenta
2	chr7:12730200-12740200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:12730800-12746600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:12731200-12740400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:12733400-12737000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:12733800-12736600	Enhancers	Hela-S3	cervix
7	chr7:12734600-12736600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:12734800-12740600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:12735000-12738600	Weak transcription	K562	blood
10	chr7:12735200-12736600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:12735400-12736200	Enhancers	Fetal Intestine Small	intestine
12	chr7:12735400-12736200	Enhancers	NHEK	skin
13	chr7:12735400-12736400	Enhancers	Fetal Intestine Large	intestine
14	chr7:12735400-12736600	Enhancers	Duodenum Mucosa	Duodenum
15	chr7:12735400-12737000	Enhancers	HMEC	breast
16	chr7:12735400-12738800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:12735600-12738400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:12736000-12739600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:12736000-12740400	Weak transcription	A549	lung
20	chr7:12736000-12743400	Weak transcription	Stomach Mucosa	stomach

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