Variant report

Variant	rs7965229
Chromosome Location	chr12:83336410-83336411
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:83331086..83333520-chr12:83336090..83338497,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10746259	0.81[ASN][1000 genomes]
rs10746261	0.80[ASN][1000 genomes]
rs10862524	0.80[ASN][1000 genomes]
rs10862525	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10862526	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10862527	0.86[ASN][1000 genomes]
rs10862528	0.81[ASN][1000 genomes]
rs10862529	0.83[ASN][1000 genomes]
rs10862530	0.82[ASN][1000 genomes]
rs11115492	0.81[ASN][1000 genomes]
rs11115495	0.89[ASN][1000 genomes]
rs12297736	0.80[ASN][1000 genomes]
rs12320912	0.80[ASN][1000 genomes]
rs12809082	0.82[ASN][1000 genomes]
rs1471781	0.94[ASN][1000 genomes]
rs1625397	0.81[ASN][1000 genomes]
rs1682590	0.83[ASN][1000 genomes]
rs1682592	0.83[ASN][1000 genomes]
rs1682593	0.83[ASN][1000 genomes]
rs1682594	0.83[ASN][1000 genomes]
rs1682595	0.81[ASN][1000 genomes]
rs1796188	0.83[ASN][1000 genomes]
rs1796189	0.83[ASN][1000 genomes]
rs2403020	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2403021	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2403023	0.82[ASN][1000 genomes]
rs34176101	0.82[ASN][1000 genomes]
rs34376734	0.82[ASN][1000 genomes]
rs35800218	0.82[ASN][1000 genomes]
rs3993374	0.82[ASN][1000 genomes]
rs4346030	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4346031	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71450913	0.82[ASN][1000 genomes]
rs7295699	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7957916	0.85[ASN][1000 genomes]
rs7970086	0.92[ASN][1000 genomes]
rs7971263	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv2758315	chr12:83101045-83357621	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2759911	chr12:83101045-83357621	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv832472	chr12:83248283-83419753	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
7	nsv559557	chr12:83334204-83453620	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83305800-83336800	Weak transcription	Fetal Stomach	stomach
2	chr12:83307800-83336800	Weak transcription	Fetal Lung	lung
3	chr12:83324800-83336800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:83325000-83346400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:83325600-83348000	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:83325800-83336800	Weak transcription	Brain Substantia Nigra	brain
7	chr12:83326000-83340200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr12:83331400-83336800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:83331400-83348000	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:83335200-83336800	Weak transcription	Fetal Heart	heart
11	chr12:83335200-83340200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr12:83336200-83337200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:83336400-83337000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr12:83336400-83337200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:83336400-83337200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:83336400-83337200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr12:83336400-83338600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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