Variant report

Variant	rs11987611
Chromosome Location	chr8:66895269-66895270
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:66894580..66896752-chr8:66901785..66904644,2	MCF-7	breast:
2	chr8:66886102..66888968-chr8:66894531..66896379,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1108213	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1108214	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985554	1.00[ASN][1000 genomes]
rs11985589	0.98[ASN][1000 genomes]
rs11987304	0.87[ASN][1000 genomes]
rs11988417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988589	1.00[ASN][1000 genomes]
rs11993927	1.00[ASN][1000 genomes]
rs11994927	1.00[ASN][1000 genomes]
rs11995310	0.83[ASN][1000 genomes]
rs11995784	0.85[ASN][1000 genomes]
rs11996481	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11998621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932382	0.87[ASN][1000 genomes]
rs17306183	1.00[JPT][hapmap]
rs2002333	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2002334	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357570	1.00[JPT][hapmap]
rs34174890	0.87[ASN][1000 genomes]
rs3901084	0.91[ASN][1000 genomes]
rs4129057	0.91[ASN][1000 genomes]
rs4565445	1.00[JPT][hapmap]
rs4620273	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs55695598	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56246853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56747456	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57683289	1.00[ASN][1000 genomes]
rs57690026	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58489131	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58881093	0.87[ASN][1000 genomes]
rs62506592	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62506593	0.87[ASN][1000 genomes]
rs62506596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62506636	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62506637	0.83[EUR][1000 genomes]
rs6472228	1.00[CHB][hapmap]
rs6472234	0.82[ASN][1000 genomes]
rs66644630	0.82[ASN][1000 genomes]
rs67768803	0.87[ASN][1000 genomes]
rs6981019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992232	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997506	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7001181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011264	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7017127	0.88[AMR][1000 genomes]
rs72650541	0.87[ASN][1000 genomes]
rs7818219	1.00[JPT][hapmap]
rs7841695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870077	0.82[AMR][1000 genomes];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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11987611	SLC6A8	trans	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66890600-66896800	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:66892000-66896800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr8:66892400-66896000	Weak transcription	Right Atrium	heart
4	chr8:66892800-66895400	Enhancers	Fetal Intestine Large	intestine
5	chr8:66893400-66895400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr8:66893400-66895600	Enhancers	Fetal Intestine Small	intestine
7	chr8:66893600-66895400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:66893600-66895400	Enhancers	HepG2	liver
9	chr8:66893600-66895600	Enhancers	Primary hematopoietic stem cells	blood
10	chr8:66893800-66901800	Weak transcription	Spleen	Spleen
11	chr8:66894000-66895600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr8:66894000-66896400	Enhancers	Primary B cells from cord blood	blood
13	chr8:66894000-66897600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:66894200-66895600	Enhancers	Fetal Kidney	kidney
15	chr8:66894600-66895400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:66894800-66895400	Flanking Active TSS	GM12878-XiMat	blood
17	chr8:66894800-66904000	Weak transcription	Primary T cells from cord blood	blood
18	chr8:66894800-66904400	Weak transcription	Thymus	Thymus
19	chr8:66895000-66895800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:66895000-66904400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr8:66895200-66900200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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