Variant report

Variant	rs373423
Chromosome Location	chr18:8659174-8659175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:8657777..8659380-chr18:8662029..8663549,2	MCF-7	breast:
2	chr18:8656592..8659415-chr18:8661915..8663898,2	K562	blood:
3	chr18:8658209..8662068-chr18:8705439..8707440,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168502	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs321650	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34405335	1.00[EUR][1000 genomes]
rs512116	1.00[EUR][1000 genomes]
rs513911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs524170	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs524445	1.00[EUR][1000 genomes]
rs527188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs597151	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs598320	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs627367	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73388260	1.00[EUR][1000 genomes]
rs7342989	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	nsv2200	chr18:8618182-8663130	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	4 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	chr18:8653800-8703400	Weak transcription	Right Atrium	heart
2	chr18:8654600-8659200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr18:8655200-8659800	Enhancers	Brain Germinal Matrix	brain
4	chr18:8655200-8660600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr18:8655200-8662400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr18:8655400-8662000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr18:8655800-8659400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr18:8656400-8659400	Weak transcription	K562	blood
9	chr18:8657000-8660800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr18:8657200-8661600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr18:8657400-8661800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr18:8657800-8662000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr18:8658000-8661600	Weak transcription	Brain Angular Gyrus	brain
14	chr18:8658000-8661600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr18:8658200-8660200	Weak transcription	NH-A	brain
16	chr18:8658200-8660600	Weak transcription	NHLF	lung
17	chr18:8658200-8661000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr18:8658200-8661200	Weak transcription	NHDF-Ad	bronchial
19	chr18:8658200-8661400	Weak transcription	Fetal Brain Female	brain
20	chr18:8658200-8661800	Weak transcription	Brain Hippocampus Middle	brain
21	chr18:8658200-8661800	Weak transcription	Brain Substantia Nigra	brain
22	chr18:8658200-8661800	Weak transcription	HMEC	breast
23	chr18:8658400-8659400	Weak transcription	Fetal Brain Male	brain
24	chr18:8658400-8660800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr18:8658400-8661200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr18:8658400-8661600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr18:8658400-8661600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr18:8658400-8661600	Weak transcription	Hela-S3	cervix
29	chr18:8658400-8661600	Weak transcription	HSMMtube	muscle
30	chr18:8658400-8661800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr18:8658400-8665200	Weak transcription	A549	lung
32	chr18:8658600-8661400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr18:8659000-8659200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr18:8659000-8659200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr18:8659000-8660600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr18:8659000-8661000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr18:8659000-8663800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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