Variant report

Variant	rs73349175
Chromosome Location	chr8:125852752-125852753
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125851467..125856602-chr8:125857773..125861438,7	K562	blood:
2	chr8:125848148..125849956-chr8:125851282..125854151,2	MCF-7	breast:
3	chr8:125851298..125853830-chr8:125862569..125864534,2	MCF-7	breast:
4	chr8:125808427..125810634-chr8:125852505..125855502,2	MCF-7	breast:
5	chr8:125847137..125849263-chr8:125851219..125853142,2	K562	blood:
6	chr8:125845588..125849228-chr8:125849730..125853632,5	MCF-7	breast:
7	chr8:125824069..125826348-chr8:125852488..125855335,2	K562	blood:

Variant related genes	Relation type
ENSG00000249816	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs6997272	1.00[EUR][1000 genomes]
rs7003427	1.00[EUR][1000 genomes]
rs73340152	1.00[EUR][1000 genomes]
rs73349127	1.00[EUR][1000 genomes]
rs73349160	1.00[EUR][1000 genomes]
rs7461335	1.00[EUR][1000 genomes]
rs7464660	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125847000-125853800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:125847200-125854800	Weak transcription	Esophagus	oesophagus
3	chr8:125847200-125855400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:125847400-125854000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:125847400-125854600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:125847400-125854600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:125847400-125855000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:125847400-125860600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:125848400-125854800	Weak transcription	Pancreas	Pancrea
10	chr8:125850400-125853200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr8:125850600-125852800	Enhancers	Fetal Brain Male	brain
12	chr8:125850800-125852800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:125850800-125853000	Enhancers	Brain Germinal Matrix	brain
14	chr8:125851000-125852800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:125851200-125852800	Enhancers	Adipose Nuclei	Adipose
16	chr8:125851200-125853000	Enhancers	Lung	lung
17	chr8:125851200-125853200	Enhancers	Fetal Heart	heart
18	chr8:125851400-125853400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr8:125851600-125854600	Weak transcription	Brain Anterior Caudate	brain
20	chr8:125851600-125854600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:125851800-125854400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr8:125851800-125854600	Weak transcription	Brain Angular Gyrus	brain
23	chr8:125852000-125853000	Enhancers	Primary hematopoietic stem cells	blood
24	chr8:125852000-125853000	Enhancers	Spleen	Spleen
25	chr8:125852200-125852800	Enhancers	Primary B cells from cord blood	blood
26	chr8:125852200-125853000	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr8:125852200-125853000	Enhancers	Primary B cells from peripheral blood	blood
28	chr8:125852200-125853000	Enhancers	Primary T cells from cord blood	blood
29	chr8:125852200-125853000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:125852200-125853000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr8:125852200-125853000	Enhancers	Right Ventricle	heart
32	chr8:125852200-125853000	Enhancers	K562	blood
33	chr8:125852200-125856400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr8:125852400-125852800	Enhancers	H9 Cell Line	embryonic stem cell
35	chr8:125852400-125852800	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr8:125852400-125852800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:125852400-125853000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr8:125852400-125853000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr8:125852400-125853000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr8:125852400-125853000	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr8:125852400-125853000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr8:125852400-125853000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:125852400-125853000	Enhancers	Fetal Thymus	thymus
44	chr8:125852400-125853000	Enhancers	Left Ventricle	heart
45	chr8:125852400-125853000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr8:125852400-125853000	Enhancers	Thymus	Thymus
47	chr8:125852400-125853000	Enhancers	HUVEC	blood vessel
48	chr8:125852400-125853000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr8:125852400-125853200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:125852400-125853200	Enhancers	Placenta	Placenta

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