Variant report

Variant	rs73280895
Chromosome Location	chr8:102916648-102916649
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:102916207..102919330-chr8:102919877..102923677,3	MCF-7	breast:
2	chr8:102915036..102919130-chr8:102919959..102923677,4	MCF-7	breast:
3	chr8:102912593..102916375-chr8:102916443..102918583,3	K562	blood:
4	chr8:102916266..102919129-chr8:102925767..102928340,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11986985	1.00[ASN][1000 genomes]
rs16868433	1.00[EUR][1000 genomes]
rs16868457	1.00[EUR][1000 genomes]
rs56731949	0.83[EUR][1000 genomes]
rs58133251	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58912743	0.83[EUR][1000 genomes]
rs59182464	1.00[ASN][1000 genomes]
rs60240355	0.83[EUR][1000 genomes]
rs60942694	0.83[EUR][1000 genomes]
rs61308131	1.00[EUR][1000 genomes]
rs6998151	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998300	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73277021	1.00[EUR][1000 genomes]
rs73280889	1.00[EUR][1000 genomes]
rs73290537	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73696511	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73696582	0.83[EUR][1000 genomes]
rs73696583	0.83[EUR][1000 genomes]
rs73696584	0.83[EUR][1000 genomes]
rs7839949	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv465749	chr8:102847202-102929460	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv611819	chr8:102847202-102929460	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102910200-102919800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:102914800-102918000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:102915000-102917800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:102915200-102938800	Weak transcription	Aorta	Aorta
5	chr8:102915400-102916800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:102915400-102916800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:102915400-102919400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr8:102915400-102919400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:102915400-102919800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:102915400-102919800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:102915400-102920000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr8:102915400-102920200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr8:102915400-102920800	Enhancers	Fetal Muscle Leg	muscle
14	chr8:102915400-102921200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:102915800-102917200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:102916000-102918600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:102916000-102920000	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:102916000-102920400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:102916000-102920400	Weak transcription	Fetal Stomach	stomach
20	chr8:102916200-102919800	Weak transcription	Psoas Muscle	Psoas
21	chr8:102916200-102919800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:102916200-102920000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:102916200-102920000	Enhancers	GM12878-XiMat	blood
24	chr8:102916200-102920200	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr8:102916200-102932200	Weak transcription	Lung	lung
26	chr8:102916200-102942600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:102916400-102917600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:102916400-102917800	Weak transcription	NHDF-Ad	bronchial
29	chr8:102916400-102918400	Weak transcription	Ovary	ovary
30	chr8:102916400-102918400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:102916400-102918600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr8:102916400-102918600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:102916400-102920000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:102916400-102920000	Weak transcription	HMEC	breast
35	chr8:102916400-102920200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr8:102916600-102919800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:102916600-102920000	Weak transcription	Fetal Heart	heart

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