Variant report

Variant	rs62506592
Chromosome Location	chr8:66876448-66876449
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	chr8:66752643..66756162-chr8:66875413..66878176,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205268	Chromatin interaction
ENSG00000272192	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1108214	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11985554	0.87[ASN][1000 genomes]
rs11985589	0.85[ASN][1000 genomes]
rs11987304	1.00[ASN][1000 genomes]
rs11987611	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11988417	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11988589	0.87[ASN][1000 genomes]
rs11993927	0.87[ASN][1000 genomes]
rs11994927	0.87[ASN][1000 genomes]
rs11995310	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11995784	0.98[ASN][1000 genomes]
rs11996481	0.80[ASN][1000 genomes]
rs11998621	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16932382	1.00[ASN][1000 genomes]
rs2002333	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2002334	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34174890	1.00[ASN][1000 genomes]
rs3901084	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4129057	0.95[ASN][1000 genomes]
rs4620273	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55695598	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56246853	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56747456	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57683289	0.87[ASN][1000 genomes]
rs57690026	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58881093	1.00[ASN][1000 genomes]
rs62506593	1.00[ASN][1000 genomes]
rs62506596	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6472234	0.87[ASN][1000 genomes]
rs66644630	0.95[ASN][1000 genomes]
rs67768803	1.00[ASN][1000 genomes]
rs6981019	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6992232	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6997506	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7001181	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72650541	1.00[ASN][1000 genomes]
rs7841695	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs870077	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66872600-66876600	Weak transcription	NHEK	skin
2	chr8:66872600-66877000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:66872800-66877200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:66873000-66876600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:66873000-66879800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:66873600-66877000	Weak transcription	Dnd41	blood
7	chr8:66873600-66877200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:66873600-66887400	Weak transcription	Thymus	Thymus
9	chr8:66873800-66877000	Weak transcription	Primary T cells from cord blood	blood
10	chr8:66873800-66877000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:66873800-66890600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr8:66874000-66877000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:66874200-66877000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:66874200-66877000	Weak transcription	Fetal Thymus	thymus
15	chr8:66874400-66879400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:66875600-66878800	Enhancers	Hela-S3	cervix
17	chr8:66875800-66877200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:66876000-66877000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr8:66876000-66877000	Weak transcription	A549	lung
20	chr8:66876200-66877800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:66876200-66877800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr8:66876200-66878000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr8:66876400-66876800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr8:66876400-66876800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr8:66876400-66877000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr8:66876400-66877800	Enhancers	HMEC	breast

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