Variant report

Variant	rs11994927
Chromosome Location	chr8:66882850-66882851
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	chr8:66753145..66757110-chr8:66882241..66886071,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205268	Chromatin interaction
ENSG00000272192	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1108214	1.00[ASN][1000 genomes]
rs11985050	0.88[CEU][hapmap]
rs11985554	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985589	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11987304	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11987611	1.00[ASN][1000 genomes]
rs11988417	1.00[ASN][1000 genomes]
rs11988589	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993927	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995310	0.83[ASN][1000 genomes]
rs11995784	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11996481	0.93[ASN][1000 genomes]
rs11998621	1.00[ASN][1000 genomes]
rs16932382	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17306183	0.88[CEU][hapmap]
rs2002333	1.00[ASN][1000 genomes]
rs2002334	1.00[ASN][1000 genomes]
rs2357570	0.88[CEU][hapmap]
rs34174890	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34464051	0.80[EUR][1000 genomes]
rs3901084	0.91[ASN][1000 genomes]
rs4129057	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4487748	0.85[EUR][1000 genomes]
rs4565445	0.88[CEU][hapmap]
rs4620273	0.87[ASN][1000 genomes]
rs55695598	0.85[ASN][1000 genomes]
rs56246853	1.00[ASN][1000 genomes]
rs56747456	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57683289	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57690026	1.00[ASN][1000 genomes]
rs58881093	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62506592	0.87[ASN][1000 genomes]
rs62506593	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62506596	1.00[ASN][1000 genomes]
rs6472234	0.82[ASN][1000 genomes]
rs66644630	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67768803	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6981019	1.00[ASN][1000 genomes]
rs6992232	1.00[ASN][1000 genomes]
rs6997506	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7001181	1.00[ASN][1000 genomes]
rs72650541	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7818219	0.88[CEU][hapmap]
rs7841695	1.00[ASN][1000 genomes]
rs870077	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

No data

Chromatin state (count:19 , 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	chr8:66877800-66886200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr8:66877800-66886400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:66878200-66884800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:66878600-66886200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr8:66878800-66883200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr8:66878800-66884600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr8:66878800-66893600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr8:66879000-66883400	Weak transcription	Fetal Thymus	thymus
11	chr8:66880000-66884800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:66880000-66885000	Weak transcription	HMEC	breast
13	chr8:66880000-66885200	Weak transcription	NHDF-Ad	bronchial
14	chr8:66881000-66885200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:66881200-66883800	Enhancers	Hela-S3	cervix
16	chr8:66881800-66886200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr8:66882400-66884200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr8:66882400-66885200	Weak transcription	Esophagus	oesophagus
19	chr8:66882400-66885400	Weak transcription	A549	lung

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