Variant report

Variant	rs73293347
Chromosome Location	chr8:102992367-102992368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:102989164..102991049-chr8:102992314..102994744,2	K562	blood:
2	chr8:102986615..102988914-chr8:102991157..102993474,2	K562	blood:
3	chr8:102984375..102986056-chr8:102991916..102994801,2	K562	blood:
4	chr8:102985923..102988021-chr8:102992100..102994018,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104490	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10429306	1.00[EUR][1000 genomes]
rs11996181	1.00[EUR][1000 genomes]
rs12114203	1.00[EUR][1000 genomes]
rs12114981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73279256	1.00[AMR][1000 genomes]
rs73279295	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73279297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73279300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73279301	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73281304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73281308	1.00[EUR][1000 genomes]
rs7843596	1.00[EUR][1000 genomes]
rs9969490	1.00[EUR][1000 genomes]
rs9969492	1.00[EUR][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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102988600-102992600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:102989000-102993400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:102989600-102993200	Enhancers	Ovary	ovary
4	chr8:102989800-102992400	Enhancers	Fetal Brain Male	brain
5	chr8:102989800-102992600	Enhancers	Aorta	Aorta
6	chr8:102989800-102994800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr8:102990200-102992400	Weak transcription	HMEC	breast
8	chr8:102990200-102992400	Weak transcription	NHEK	skin
9	chr8:102990200-102993000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:102990200-102996000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:102990400-102993400	Enhancers	Fetal Heart	heart
12	chr8:102990400-102999400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:102990400-103008000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:102990800-102992800	Enhancers	Fetal Muscle Leg	muscle
15	chr8:102990800-102992800	Enhancers	Psoas Muscle	Psoas
16	chr8:102990800-102993200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:102990800-102993200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:102991000-102992800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr8:102991000-102993600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:102991200-102993400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:102991200-102994000	Enhancers	Rectal Smooth Muscle	rectum
22	chr8:102991200-102994400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:102991400-102992400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr8:102991400-102992600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:102991400-102993200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr8:102991400-102993200	Enhancers	Placenta Amnion	Placenta Amnion
27	chr8:102991400-102993400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:102991400-102993600	Enhancers	GM12878-XiMat	blood
29	chr8:102991600-102993200	Enhancers	NH-A	brain
30	chr8:102991600-102993800	Weak transcription	Colon Smooth Muscle	Colon
31	chr8:102991600-102996800	Weak transcription	K562	blood
32	chr8:102991800-102992800	Enhancers	Primary T cells fromperipheralblood	blood
33	chr8:102991800-102992800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr8:102991800-102993200	Enhancers	Stomach Smooth Muscle	stomach
35	chr8:102991800-102993400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:102992000-102992400	Enhancers	Primary T cells from cord blood	blood
37	chr8:102992000-102992400	Enhancers	Brain Cingulate Gyrus	brain
38	chr8:102992000-102992400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr8:102992000-102992600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr8:102992000-102992600	Enhancers	Esophagus	oesophagus
41	chr8:102992000-102992600	Enhancers	Fetal Muscle Trunk	muscle
42	chr8:102992000-102992600	Enhancers	Left Ventricle	heart
43	chr8:102992000-102992600	Enhancers	Lung	lung
44	chr8:102992000-102992800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:102992000-102992800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:102992000-102993200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:102992000-102993200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr8:102992000-102993600	Enhancers	Right Ventricle	heart
49	chr8:102992200-102992400	Enhancers	Placenta	Placenta
50	chr8:102992200-102992400	Enhancers	Spleen	Spleen

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