Variant report

Variant	rs9886578
Chromosome Location	chr8:102989811-102989812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr8:102989759-102990239	T-47D	breast:	n/a	chr8:102990171-102990181

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:102989164..102991049-chr8:102992314..102994744,2	K562	blood:

Variant related genes	Relation type
NCALD	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10090732	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10091084	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102923	0.85[EUR][1000 genomes]
rs10105502	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505017	0.83[EUR][1000 genomes]
rs1269711	0.86[EUR][1000 genomes]
rs1269712	0.88[EUR][1000 genomes]
rs16868893	0.85[EUR][1000 genomes]
rs1992330	0.88[EUR][1000 genomes]
rs2023268	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2023269	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2387331	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28379664	0.83[EUR][1000 genomes]
rs28680363	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34417909	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734049	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4734050	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4734052	0.85[EUR][1000 genomes]
rs4734607	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55837041	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59321812	0.85[EUR][1000 genomes]
rs60389438	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6468809	0.86[EUR][1000 genomes]
rs72679088	0.86[EUR][1000 genomes]
rs7814225	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818772	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9297317	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9656850	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs984928	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102976000-102992000	Weak transcription	Right Ventricle	heart
2	chr8:102981000-102992000	Weak transcription	Esophagus	oesophagus
3	chr8:102983400-102991400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:102983600-102991200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:102983600-102992000	Weak transcription	Left Ventricle	heart
6	chr8:102986400-102990400	Weak transcription	Fetal Heart	heart
7	chr8:102987200-102991000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:102987400-102990800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:102987800-102992000	Weak transcription	Lung	lung
10	chr8:102988200-102991000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:102988200-102991200	Weak transcription	K562	blood
12	chr8:102988400-102991200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr8:102988600-102991400	Weak transcription	Spleen	Spleen
14	chr8:102988600-102992600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:102989000-102990800	Enhancers	GM12878-XiMat	blood
16	chr8:102989000-102993400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:102989600-102990000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr8:102989600-102990200	Enhancers	HMEC	breast
19	chr8:102989600-102991000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:102989600-102993200	Enhancers	Ovary	ovary
21	chr8:102989800-102990000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:102989800-102990000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:102989800-102990000	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr8:102989800-102990000	Enhancers	Fetal Muscle Leg	muscle
25	chr8:102989800-102990000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr8:102989800-102990000	Enhancers	Psoas Muscle	Psoas
27	chr8:102989800-102990000	Enhancers	NH-A	brain
28	chr8:102989800-102990200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr8:102989800-102990200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:102989800-102990200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:102989800-102990200	Enhancers	NHEK	skin
32	chr8:102989800-102990400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:102989800-102990400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr8:102989800-102990400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:102989800-102990400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:102989800-102990600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:102989800-102990600	Enhancers	Stomach Smooth Muscle	stomach
38	chr8:102989800-102992400	Enhancers	Fetal Brain Male	brain
39	chr8:102989800-102992600	Enhancers	Aorta	Aorta
40	chr8:102989800-102994800	Enhancers	Skeletal Muscle Female	skeletal muscle

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