Variant report

Variant	rs892714
Chromosome Location	chr7:12710385-12710386
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs12540948	0.82[EUR][1000 genomes]
rs12699414	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13221298	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13221458	0.94[AMR][1000 genomes]
rs13222937	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13224178	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13224841	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13224956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13227930	1.00[AFR][1000 genomes]
rs13232089	1.00[AFR][1000 genomes]
rs13242483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13244046	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17616248	1.00[AFR][1000 genomes]
rs17616514	1.00[AFR][1000 genomes]
rs34250068	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34452532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][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];0.84[EUR][1000 genomes]
rs35044018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35091099	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35110067	0.82[EUR][1000 genomes]
rs35268481	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35908302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55831963	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56031342	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56178138	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56246037	1.00[AFR][1000 genomes]
rs57814372	0.83[EUR][1000 genomes]
rs66620565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66931243	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67346212	1.00[AFR][1000 genomes]
rs71529345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71536892	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71536895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73048799	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73053419	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73053466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73055418	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs73055421	0.83[AMR][1000 genomes]
rs73055427	1.00[AFR][1000 genomes]
rs73055444	1.00[AFR][1000 genomes]
rs73055447	1.00[AFR][1000 genomes]
rs73055475	1.00[AFR][1000 genomes]
rs73055491	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1021371	chr7:12530491-12710429	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1017577	chr7:12530491-12722947	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1030764	chr7:12532287-12710429	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12707200-12711400	Enhancers	Primary B cells from peripheral blood	blood
2	chr7:12708600-12711000	Enhancers	Colon Smooth Muscle	Colon
3	chr7:12708600-12711400	Enhancers	Fetal Stomach	stomach
4	chr7:12708600-12712400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:12708800-12710600	Enhancers	Rectal Smooth Muscle	rectum
6	chr7:12708800-12710600	Enhancers	HepG2	liver
7	chr7:12709400-12711000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:12709600-12711400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr7:12709800-12710800	Weak transcription	Fetal Lung	lung
10	chr7:12709800-12711400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr7:12710000-12710800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:12710000-12711200	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:12710200-12710600	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr7:12710200-12710800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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