Variant report

Variant	rs6581963
Chromosome Location	chr12:41184548-41184549
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10735959	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10748155	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10748156	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10748157	0.81[AFR][1000 genomes]
rs10784861	0.85[AFR][1000 genomes]
rs10784865	0.81[AFR][1000 genomes]
rs1584098	0.87[AMR][1000 genomes]
rs1596531	0.89[AMR][1000 genomes]
rs1596533	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1609894	0.85[AFR][1000 genomes]
rs1947050	0.85[AFR][1000 genomes]
rs4768308	0.81[AFR][1000 genomes]
rs6581954	0.85[AFR][1000 genomes]
rs6581956	0.89[AFR][1000 genomes]
rs6581959	0.85[AFR][1000 genomes]
rs6581960	0.87[AFR][1000 genomes]
rs6581961	0.89[AFR][1000 genomes]
rs6581962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7132626	0.89[AFR][1000 genomes]
rs7133020	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7135780	0.85[AFR][1000 genomes]
rs7136811	0.85[AFR][1000 genomes]
rs7294835	0.89[AFR][1000 genomes]
rs7298569	0.87[AMR][1000 genomes]
rs7302057	0.85[AFR][1000 genomes]
rs7314908	0.84[AFR][1000 genomes]
rs7315033	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7960628	0.87[AMR][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	nsv427909	chr12:41054306-41322257	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv832379	chr12:41054440-41232749	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832380	chr12:41132306-41323961	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv469362	chr12:41155000-41206520	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv558697	chr12:41155000-41206520	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv469363	chr12:41155000-41214848	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv558698	chr12:41155000-41214848	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3423420	chr12:41182110-41184658	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
9	esv3361530	chr12:41183108-41184620	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41146200-41187400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:41175600-41201800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:41178600-41186800	Weak transcription	Ovary	ovary
4	chr12:41182400-41184800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:41182400-41186800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:41182600-41184800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:41182600-41186600	Weak transcription	Fetal Lung	lung
8	chr12:41182600-41187000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:41182600-41187000	Weak transcription	A549	lung
10	chr12:41182800-41185000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:41182800-41185000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:41182800-41185600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:41183800-41184600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:41184200-41186800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:41184400-41184600	Enhancers	HUES6 Cell Line	embryonic stem cell

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