Variant report

Variant	rs66579093
Chromosome Location	chr8:125312721-125312722
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	chr8:125307378..125309336-chr8:125311046..125312762,2	K562	blood:
2	chr8:125292376..125294565-chr8:125310968..125313467,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10090489	0.90[ASN][1000 genomes]
rs10093809	0.87[ASN][1000 genomes]
rs10093812	0.90[ASN][1000 genomes]
rs17369882	0.88[ASN][1000 genomes]
rs28485247	0.81[ASN][1000 genomes]
rs28589797	0.88[ASN][1000 genomes]
rs28657471	0.90[ASN][1000 genomes]
rs4316136	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66538719	0.88[ASN][1000 genomes]
rs67086747	0.90[ASN][1000 genomes]
rs67647956	0.95[AFR][1000 genomes]
rs6990592	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6990925	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72711162	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72721427	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72721429	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72721430	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72721432	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72721435	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72721437	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72721440	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72721441	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72721443	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7833150	0.90[ASN][1000 genomes]
rs9886564	0.90[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	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv521356	chr8:125309055-125404763	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125301400-125329800	Weak transcription	HSMMtube	muscle
2	chr8:125304400-125313600	Weak transcription	Left Ventricle	heart
3	chr8:125304600-125317800	Weak transcription	Fetal Heart	heart
4	chr8:125306200-125328000	Weak transcription	A549	lung
5	chr8:125309400-125331000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:125311200-125312800	Enhancers	Fetal Thymus	thymus
7	chr8:125311200-125333600	Weak transcription	Right Ventricle	heart
8	chr8:125311600-125312800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:125311600-125312800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:125311600-125312800	Enhancers	Dnd41	blood
11	chr8:125311800-125312800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr8:125312000-125312800	Enhancers	Primary hematopoietic stem cells	blood
13	chr8:125312000-125312800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:125312000-125320200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:125312000-125323800	Weak transcription	Aorta	Aorta
16	chr8:125312000-125330800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:125312200-125312800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:125312200-125312800	Enhancers	NHDF-Ad	bronchial
19	chr8:125312400-125312800	Enhancers	Primary T cells fromperipheralblood	blood
20	chr8:125312400-125312800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:125312400-125313600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:125312400-125319400	Weak transcription	Primary T cells from cord blood	blood
23	chr8:125312400-125331000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:125312600-125326000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr8:125312600-125328000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr8:125312600-125329800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:125312600-125329800	Weak transcription	Thymus	Thymus
28	chr8:125312600-125330000	Weak transcription	Fetal Stomach	stomach
29	chr8:125312600-125333000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:125312600-125346000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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