Variant report

Variant	rs57683289
Chromosome Location	chr8:66885439-66885440
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
ENSG00000272192	Chromatin interaction
ENSG00000205268	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1108214	1.00[ASN][1000 genomes]
rs11984602	0.83[EUR][1000 genomes]
rs11985050	0.84[EUR][1000 genomes]
rs11985554	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985589	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11987304	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11987611	1.00[ASN][1000 genomes]
rs11988417	1.00[ASN][1000 genomes]
rs11988589	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993927	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994407	0.83[EUR][1000 genomes]
rs11994927	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995310	0.83[ASN][1000 genomes]
rs11995784	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11996481	0.93[ASN][1000 genomes]
rs11998621	1.00[ASN][1000 genomes]
rs16932382	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17306183	0.84[EUR][1000 genomes]
rs2002333	1.00[ASN][1000 genomes]
rs2002334	1.00[ASN][1000 genomes]
rs2357567	0.83[EUR][1000 genomes]
rs2357570	0.83[EUR][1000 genomes]
rs34174890	0.87[ASN][1000 genomes]
rs34464051	0.84[EUR][1000 genomes]
rs35753080	0.83[EUR][1000 genomes]
rs3901084	0.91[ASN][1000 genomes]
rs4129057	0.91[ASN][1000 genomes]
rs4487748	0.89[EUR][1000 genomes]
rs4565445	0.83[EUR][1000 genomes]
rs4620273	0.87[ASN][1000 genomes]
rs55695598	0.85[ASN][1000 genomes]
rs56246853	1.00[ASN][1000 genomes]
rs56747456	1.00[ASN][1000 genomes]
rs57690026	1.00[ASN][1000 genomes]
rs58817197	0.83[EUR][1000 genomes]
rs58881093	0.87[ASN][1000 genomes]
rs62506592	0.87[ASN][1000 genomes]
rs62506593	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62506596	1.00[ASN][1000 genomes]
rs62506650	0.83[EUR][1000 genomes]
rs62507386	0.83[EUR][1000 genomes]
rs6472234	0.82[ASN][1000 genomes]
rs66644630	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs67768803	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6981019	1.00[ASN][1000 genomes]
rs6992232	1.00[ASN][1000 genomes]
rs6997506	1.00[ASN][1000 genomes]
rs7001181	1.00[ASN][1000 genomes]
rs7017127	0.81[AFR][1000 genomes]
rs72650541	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7812439	0.83[EUR][1000 genomes]
rs7814933	0.83[EUR][1000 genomes]
rs7818219	0.83[EUR][1000 genomes]
rs7841695	1.00[ASN][1000 genomes]
rs870077	0.87[ASN][1000 genomes]
rs950729	0.83[EUR][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	chr8:66873600-66887400	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	chr8:66878600-66886200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr8:66878800-66893600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr8:66881800-66886200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr8:66884000-66886000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr8:66884200-66885600	Enhancers	Hela-S3	cervix
10	chr8:66884600-66886400	Enhancers	NHEK	skin
11	chr8:66884800-66887600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:66884800-66887800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:66884800-66888000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:66884800-66888800	Enhancers	Placenta Amnion	Placenta Amnion
15	chr8:66885000-66887800	Enhancers	HMEC	breast
16	chr8:66885200-66885600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:66885200-66886200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr8:66885200-66886600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:66885200-66886600	Enhancers	Esophagus	oesophagus
20	chr8:66885200-66887200	Enhancers	NHDF-Ad	bronchial
21	chr8:66885200-66887800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:66885400-66886200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr8:66885400-66886200	Enhancers	A549	lung
24	chr8:66885400-66886400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:66885400-66887600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr8:66885400-66890000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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