Variant report

Variant	rs11995784
Chromosome Location	chr8:66880141-66880142
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	chr8:66870923..66873471-chr8:66879093..66881602,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1108214	0.85[ASN][1000 genomes]
rs11985050	0.92[CEU][hapmap]
rs11985554	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11985589	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11987304	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11987611	0.85[ASN][1000 genomes]
rs11988417	0.85[ASN][1000 genomes]
rs11988589	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11993927	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11994927	0.96[CEU][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11995310	0.93[ASN][1000 genomes]
rs11998621	0.85[ASN][1000 genomes]
rs1316700	1.00[CHB][hapmap]
rs16932382	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17306183	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs2002333	0.85[ASN][1000 genomes]
rs2002334	0.85[ASN][1000 genomes]
rs2357570	0.92[CEU][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs34174890	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3901084	0.93[ASN][1000 genomes]
rs4129057	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4565445	0.92[CEU][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs4620273	0.98[ASN][1000 genomes]
rs55695598	0.96[ASN][1000 genomes]
rs56246853	0.85[ASN][1000 genomes]
rs56747456	0.85[ASN][1000 genomes]
rs57683289	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57690026	0.85[ASN][1000 genomes]
rs58881093	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62506592	0.98[ASN][1000 genomes]
rs62506593	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62506596	0.85[ASN][1000 genomes]
rs6472221	1.00[CHB][hapmap]
rs6472228	1.00[CHB][hapmap]
rs6472234	0.84[ASN][1000 genomes]
rs66644630	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67768803	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6981019	0.85[ASN][1000 genomes]
rs6981354	0.83[GIH][hapmap]
rs6992232	0.85[ASN][1000 genomes]
rs6997506	0.85[ASN][1000 genomes]
rs7001181	0.85[ASN][1000 genomes]
rs72650541	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7818219	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs7841695	0.85[ASN][1000 genomes]
rs870077	0.98[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11995784	PTTG3P	cis	cerebellum	SCAN
rs11995784	MTFR1	cis	cerebellum	SCAN
rs11995784	MTFR1	cis	parietal	SCAN
rs11995784	PDE7A	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66873600-66887400	Weak transcription	Thymus	Thymus
2	chr8:66873800-66890600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr8:66877800-66881800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr8:66877800-66886200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr8:66877800-66886400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:66878200-66884800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:66878600-66886200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr8:66878800-66883200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr8:66878800-66884600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:66878800-66893600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr8:66879000-66883400	Weak transcription	Fetal Thymus	thymus
12	chr8:66879400-66880400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:66879800-66881000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:66880000-66881200	Weak transcription	Hela-S3	cervix
15	chr8:66880000-66881600	Weak transcription	A549	lung
16	chr8:66880000-66884800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:66880000-66885000	Weak transcription	HMEC	breast
18	chr8:66880000-66885200	Weak transcription	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links