Variant report

Variant	rs6997496
Chromosome Location	chr8:66854260-66854261
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:66850491..66852718-chr8:66853512..66855804,2	K562	blood:
2	chr8:66753103..66755802-chr8:66852747..66855932,3	MCF-7	breast:
3	chr8:66839117..66841640-chr8:66852102..66854961,2	K562	blood:
4	chr8:66851700..66853569-chr8:66854043..66855842,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205268	Chromatin interaction
ENSG00000272192	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10092435	0.85[ASN][1000 genomes]
rs10097206	0.83[ASN][1000 genomes]
rs10098417	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10104877	0.85[ASN][1000 genomes]
rs11984566	1.00[ASN][1000 genomes]
rs11984618	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11986470	1.00[ASN][1000 genomes]
rs11988360	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11988712	0.97[ASN][1000 genomes]
rs11991974	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11995587	0.85[ASN][1000 genomes]
rs11995702	0.85[ASN][1000 genomes]
rs11995704	0.85[ASN][1000 genomes]
rs11996694	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11996764	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11997658	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11998618	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11998640	0.87[ASN][1000 genomes]
rs12114319	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16932411	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2357552	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2357566	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2357568	0.85[ASN][1000 genomes]
rs2357569	0.85[ASN][1000 genomes]
rs2357577	0.80[ASN][1000 genomes]
rs2357579	0.85[ASN][1000 genomes]
rs2357657	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2357663	1.00[JPT][hapmap]
rs2357666	0.86[JPT][hapmap]
rs28402886	0.85[ASN][1000 genomes]
rs28605672	0.85[ASN][1000 genomes]
rs2884235	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs34653832	0.97[ASN][1000 genomes]
rs3934466	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4262311	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4317552	0.80[ASN][1000 genomes]
rs4355757	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4380924	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4601292	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4637811	0.80[ASN][1000 genomes]
rs55861240	0.88[ASN][1000 genomes]
rs55864718	0.83[ASN][1000 genomes]
rs56080166	0.90[ASN][1000 genomes]
rs56249745	0.88[ASN][1000 genomes]
rs56389721	0.97[ASN][1000 genomes]
rs59282311	0.88[ASN][1000 genomes]
rs60020249	0.85[ASN][1000 genomes]
rs60120959	0.86[ASN][1000 genomes]
rs60258162	1.00[ASN][1000 genomes]
rs60520895	0.82[ASN][1000 genomes]
rs60667481	0.85[ASN][1000 genomes]
rs61709988	0.88[ASN][1000 genomes]
rs6472232	0.88[ASN][1000 genomes]
rs6472236	1.00[ASN][1000 genomes]
rs6472238	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6472241	0.82[ASN][1000 genomes]
rs6472242	0.80[ASN][1000 genomes]
rs6981354	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.95[ASN][1000 genomes]
rs6982577	0.85[ASN][1000 genomes]
rs6983945	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6985149	0.87[ASN][1000 genomes]
rs6989099	0.88[ASN][1000 genomes]
rs6989850	0.87[ASN][1000 genomes]
rs6990319	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6992002	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6994725	1.00[ASN][1000 genomes]
rs6996761	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7000670	0.88[ASN][1000 genomes]
rs7003160	0.85[ASN][1000 genomes]
rs7006789	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7010113	0.87[ASN][1000 genomes]
rs7010679	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7012332	0.88[ASN][1000 genomes]
rs7017618	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7461470	0.93[ASN][1000 genomes]
rs7465415	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7812954	0.85[ASN][1000 genomes]
rs7817474	1.00[ASN][1000 genomes]
rs7841181	1.00[ASN][1000 genomes]
rs9694378	0.87[ASN][1000 genomes]
rs9918852	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1023239	chr8:66775321-66904124	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6997496	MTFR1	cis	cerebellum	SCAN
rs6997496	PTTG3P	cis	cerebellum	SCAN
rs6997496	PDE7A	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66846400-66854400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:66850200-66854400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr8:66851400-66858200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr8:66851400-66862000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr8:66851600-66855600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:66852000-66855400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:66853000-66858400	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr8:66853400-66860800	Weak transcription	Pancreas	Pancrea
9	chr8:66854000-66856400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr8:66854000-66861000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr8:66854000-66863400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr8:66854000-66863600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr8:66854000-66863600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:66854200-66854800	Enhancers	Thymus	Thymus
15	chr8:66854200-66857000	Enhancers	Dnd41	blood
16	chr8:66854200-66860200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr8:66854200-66860800	Enhancers	Primary T cells from cord blood	blood
18	chr8:66854200-66860800	Enhancers	Fetal Thymus	thymus
19	chr8:66854200-66863200	Enhancers	Primary T cells fromperipheralblood	blood

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