Variant report

Variant	rs7298673
Chromosome Location	chr12:9310959-9310960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:9309634-9311408	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
TPT1P12	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10492114	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10492115	0.81[ASN][1000 genomes]
rs11608867	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11609582	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11611433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11611826	0.81[ASN][1000 genomes]
rs11613746	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11615143	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11615434	0.81[ASN][1000 genomes]
rs11615443	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11834163	0.82[JPT][hapmap]
rs16917971	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs16918162	1.00[JPT][hapmap]
rs1805665	0.85[JPT][hapmap]
rs1805680	0.81[ASN][1000 genomes]
rs1805720	0.85[JPT][hapmap]
rs1863838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226405	1.00[CHD][hapmap]
rs226406	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs226407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2377746	0.81[ASN][1000 genomes]
rs3213832	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3741849	1.00[JPT][hapmap]
rs3741850	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4882978	0.81[ASN][1000 genomes]
rs4882979	0.81[ASN][1000 genomes]
rs4882981	0.84[JPT][hapmap]
rs4883213	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs56256934	0.81[ASN][1000 genomes]
rs56345025	0.81[ASN][1000 genomes]
rs6487609	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6487636	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487650	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7302725	0.81[ASN][1000 genomes]
rs73051904	0.84[ASN][1000 genomes]
rs7955497	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs7967997	0.81[ASN][1000 genomes]
rs7970135	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9888309	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]

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	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
3	esv3504674	chr12:9243858-9318016	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3502154	chr12:9243906-9317851	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3502155	chr12:9243906-9317851	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3504685	chr12:9243948-9317959	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv527404	chr12:9250601-9435244	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	nsv523958	chr12:9303440-9549072	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
9	nsv557355	chr12:9309995-9529015	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 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	chr12:9269000-9319200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:9297000-9316600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:9298400-9314400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr12:9298600-9311200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr12:9303200-9312800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:9304200-9323200	Strong transcription	Liver	Liver
7	chr12:9304400-9312000	Weak transcription	Psoas Muscle	Psoas
8	chr12:9305000-9325000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:9305600-9323000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:9305800-9323000	Weak transcription	Left Ventricle	heart
11	chr12:9306000-9312000	Weak transcription	Hela-S3	cervix
12	chr12:9306800-9321400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr12:9308400-9316800	Weak transcription	Spleen	Spleen
14	chr12:9309000-9311000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:9309200-9337000	Weak transcription	Primary T cells from cord blood	blood
16	chr12:9309800-9311200	Enhancers	Brain Cingulate Gyrus	brain
17	chr12:9309800-9311400	Enhancers	Brain Hippocampus Middle	brain
18	chr12:9310000-9315000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:9310000-9316800	Weak transcription	Brain Substantia Nigra	brain
20	chr12:9310800-9311200	Enhancers	Brain Angular Gyrus	brain
21	chr12:9310800-9311800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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